CYB5R3 (cytochrome b5 reductase 3) - Rat Genome Database

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Gene: CYB5R3 (cytochrome b5 reductase 3) Homo sapiens
Analyze
Symbol: CYB5R3
Name: cytochrome b5 reductase 3
RGD ID: 731731
HGNC Page HGNC:2873
Description: Enables FAD binding activity and cytochrome-b5 reductase activity, acting on NAD(P)H. Contributes to nitrite reductase (NO-forming) activity. Involved in nitric oxide biosynthetic process. Located in several cellular components, including endoplasmic reticulum; lipid droplet; and mitochondrial membrane. Part of nitric-oxide synthase complex. Is active in endoplasmic reticulum membrane. Implicated in breast cancer and methemoglobinemia. Biomarker of estrogen-receptor negative breast cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: B5R; DIA1; diaphorase 1; diaphorase-1; mutant NADH-cytochrome b5 reductase; NADH-cytochrome b5 reductase 3; NADH-cytochrome b5 reductase 3 membrane-bound form; NADH-cytochrome b5 reductase 3 soluble form
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382242,617,840 - 42,649,392 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2242,615,730 - 42,720,870 (-)EnsemblGRCh38hg38GRCh38
GRCh372243,013,846 - 43,045,398 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362241,344,763 - 41,375,349 (-)NCBINCBI36Build 36hg18NCBI36
Build 342241,339,318 - 41,367,516NCBI
Celera2226,924,326 - 26,955,882 (-)NCBICelera
Cytogenetic Map22q13.2NCBI
HuRef2225,974,473 - 26,005,949 (-)NCBIHuRef
CHM1_12242,972,995 - 43,004,519 (-)NCBICHM1_1
T2T-CHM13v2.02243,098,710 - 43,130,267 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-nitrofluorene  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
7,12-dimethyltetraphene  (ISO)
acrylamide  (EXP,ISO)
actinomycin D  (EXP)
aflatoxin B1  (ISO)
alpha-hexachlorocyclohexane  (ISO)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsenous acid  (EXP)
benzamidoxime  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
Benzo[k]fluoranthene  (ISO)
beta-lapachone  (EXP)
bezafibrate  (ISO)
bifenthrin  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (EXP)
butan-1-ol  (EXP)
C60 fullerene  (ISO)
cannabidiol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
choline  (ISO)
ciglitazone  (EXP)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
decabromodiphenyl ether  (EXP)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
epoxiconazole  (ISO)
erythromycin estolate  (ISO)
ethanol  (ISO)
fenthion  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
furfural  (EXP)
genistein  (ISO)
glafenine  (ISO)
hydralazine  (EXP)
hydrogen cyanide  (ISO)
hydroxylamine  (EXP)
indometacin  (EXP,ISO)
inulin  (ISO)
ivermectin  (EXP)
ketamine  (ISO)
kojic acid  (ISO)
L-methionine  (ISO)
methidathion  (ISO)
methylmercury chloride  (ISO)
N(4)-hydroxycytidine  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
NAD zwitterion  (EXP)
NAD(+)  (EXP)
nitrates  (ISO)
Nutlin-3  (EXP)
ochratoxin A  (EXP)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phlorizin  (ISO)
pirinixic acid  (ISO)
potassium cyanide  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
quercetin  (ISO)
quinidine  (ISO)
resveratrol  (ISO)
ritonavir  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
sodium chloride  (EXP)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
Soman  (ISO)
sulfamethoxazole hydroxylamine  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
temozolomide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
Triptolide  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)
zingerone  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: determination of the molecular basis. Aalfs CM, etal., Hum Mutat 2000;16(1):18-22.
2. Polymorphisms in the carcinogen detoxification genes CYB5A and CYB5R3 and breast cancer risk in African American women. Blanke KL, etal., Cancer Causes Control. 2014 Nov;25(11):1513-21. doi: 10.1007/s10552-014-0454-7. Epub 2014 Sep 16.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
5. Molecular basis of recessive congenital methemoglobinemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene. Kugler W, etal., Hum Mutat. 2001 Apr;17(4):348.
6. Molecular basis of two novel mutations found in type I methemoglobinemia. Lorenzo FR 5th, etal., Blood Cells Mol Dis. 2011 Apr 15;46(4):277-81. doi: 10.1016/j.bcmd.2011.01.005. Epub 2011 Feb 24.
7. NADH-Cytochrome b5 Reductase 3 Promotes Colonization and Metastasis Formation and Is a Prognostic Marker of Disease-Free and Overall Survival in Estrogen Receptor-Negative Breast Cancer. Lund RR, etal., Mol Cell Proteomics. 2015 Nov;14(11):2988-99. doi: 10.1074/mcp.M115.050385. Epub 2015 Sep 8.
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:221468   PMID:1324793   PMID:1352356   PMID:1400360   PMID:1707593   PMID:1898726   PMID:2019583   PMID:2107882   PMID:2123873   PMID:2479590   PMID:2498303   PMID:3035541  
PMID:3268037   PMID:3700359   PMID:4403130   PMID:6389526   PMID:7668255   PMID:7718898   PMID:8119939   PMID:8221686   PMID:8427971   PMID:8978818   PMID:9048929   PMID:9136051  
PMID:9207238   PMID:9266404   PMID:9639531   PMID:9695975   PMID:9886302   PMID:10591208   PMID:10807796   PMID:12393396   PMID:12477932   PMID:12884529   PMID:14741744   PMID:15039026  
PMID:15297856   PMID:15461802   PMID:15488472   PMID:15489334   PMID:15502298   PMID:15622768   PMID:15813912   PMID:15921385   PMID:15944396   PMID:15953014   PMID:16009131   PMID:16196087  
PMID:16344560   PMID:16712791   PMID:17620407   PMID:18029348   PMID:18343696   PMID:19811411   PMID:19946888   PMID:19997042   PMID:20833797   PMID:20861021   PMID:21139048   PMID:21266463  
PMID:21319273   PMID:21328435   PMID:21422237   PMID:21447608   PMID:21873635   PMID:21890473   PMID:21906983   PMID:22658674   PMID:22779921   PMID:22939629   PMID:23000965   PMID:23113554  
PMID:23123858   PMID:23297489   PMID:23376485   PMID:23503661   PMID:23703616   PMID:23866629   PMID:24104479   PMID:24266649   PMID:24450884   PMID:24500710   PMID:24981860   PMID:25521918  
PMID:26186194   PMID:26344197   PMID:26638075   PMID:27342126   PMID:27375898   PMID:27499296   PMID:28380382   PMID:28443643   PMID:28514442   PMID:28671819   PMID:28685749   PMID:29128334  
PMID:29180619   PMID:29229926   PMID:29482478   PMID:29507755   PMID:29509794   PMID:29791485   PMID:30021884   PMID:30097533   PMID:30352685   PMID:30884312   PMID:30948266   PMID:31177093  
PMID:31318583   PMID:31536960   PMID:31586073   PMID:31871319   PMID:31898843   PMID:31995728   PMID:32176739   PMID:32296183   PMID:32353859   PMID:32529326   PMID:32552912   PMID:32614325  
PMID:32687490   PMID:32697331   PMID:32707033   PMID:32877691   PMID:32941674   PMID:32963011   PMID:33060197   PMID:33144569   PMID:33916271   PMID:33961781   PMID:34079125   PMID:34349018  
PMID:34428256   PMID:34597346   PMID:34709727   PMID:34800366   PMID:35032548   PMID:35064402   PMID:35122331   PMID:35140242   PMID:35182466   PMID:35253629   PMID:35256949   PMID:35271311  
PMID:35575683   PMID:35696571   PMID:35844135   PMID:35944360   PMID:35993436   PMID:36042349   PMID:36215168   PMID:36225252   PMID:36244648   PMID:36398858   PMID:36517590   PMID:36543799  
PMID:36575184   PMID:36610398   PMID:36949045   PMID:37314216   PMID:37609425   PMID:37827155   PMID:38113892   PMID:38353123   PMID:38569033   PMID:38697112   PMID:39147351   PMID:39231216  


Genomics

Comparative Map Data
CYB5R3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382242,617,840 - 42,649,392 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2242,615,730 - 42,720,870 (-)EnsemblGRCh38hg38GRCh38
GRCh372243,013,846 - 43,045,398 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362241,344,763 - 41,375,349 (-)NCBINCBI36Build 36hg18NCBI36
Build 342241,339,318 - 41,367,516NCBI
Celera2226,924,326 - 26,955,882 (-)NCBICelera
Cytogenetic Map22q13.2NCBI
HuRef2225,974,473 - 26,005,949 (-)NCBIHuRef
CHM1_12242,972,995 - 43,004,519 (-)NCBICHM1_1
T2T-CHM13v2.02243,098,710 - 43,130,267 (-)NCBIT2T-CHM13v2.0
Cyb5r3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391583,037,696 - 83,060,641 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1583,037,695 - 83,056,793 (-)EnsemblGRCm39 Ensembl
GRCm381583,153,495 - 83,176,440 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1583,153,494 - 83,172,592 (-)EnsemblGRCm38mm10GRCm38
MGSCv371582,983,931 - 83,002,638 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361582,981,267 - 82,999,974 (-)NCBIMGSCv36mm8
Celera1585,286,802 - 85,305,568 (-)NCBICelera
Cytogenetic Map15E1NCBI
cM Map1539.4NCBI
Cyb5r3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87116,186,729 - 116,204,290 (-)NCBIGRCr8
mRatBN7.27114,306,686 - 114,324,247 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7114,306,685 - 114,324,298 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7116,061,829 - 116,079,400 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07118,286,246 - 118,303,784 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07118,255,692 - 118,273,230 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07124,024,003 - 124,041,564 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7124,023,995 - 124,041,594 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07124,006,942 - 124,024,503 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47121,187,821 - 121,205,382 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17121,222,050 - 121,239,612 (-)NCBI
Celera7110,620,903 - 110,638,468 (-)NCBICelera
Cytogenetic Map7q34NCBI
LOC102012303
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541327,969,949 - 27,979,909 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541327,971,140 - 27,979,905 (-)NCBIChiLan1.0ChiLan1.0
LOC100982559
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22352,453,476 - 52,484,518 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12255,145,984 - 55,177,005 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02223,513,724 - 23,544,746 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12241,666,548 - 41,694,104 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2241,666,548 - 41,694,104 (-)Ensemblpanpan1.1panPan2
CYB5R3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11022,829,898 - 22,848,284 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1022,819,221 - 22,848,284 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1022,756,034 - 22,783,841 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01023,565,239 - 23,592,996 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1023,565,191 - 23,595,635 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11023,282,809 - 23,310,756 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01023,602,619 - 23,630,348 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01023,777,463 - 23,805,206 (+)NCBIUU_Cfam_GSD_1.0
LOC101962805
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049456,411,149 - 6,427,796 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936718549,938 - 564,195 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936718552,369 - 564,195 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CYB5R3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl56,146,276 - 6,170,212 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.156,146,230 - 6,170,209 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.253,604,124 - 3,628,138 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CYB5R3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11925,172,513 - 25,191,139 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666045100,266,413 - 100,298,273 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
LOC101718541
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247526,182,129 - 6,198,400 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247526,182,156 - 6,198,395 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CYB5R3
222 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
Single allele deletion Intellectual disability [RCV001293368] Chr22:42356886..43684002 [GRCh37]
Chr22:22q13.2		 pathogenic
NM_000398.7(CYB5R3):c.382T>C (p.Ser128Pro) single nucleotide variant METHEMOGLOBINEMIA, TYPE II [RCV000000258] Chr22:42628233 [GRCh38]
Chr22:43024239 [GRCh37]
Chr22:22q13.2		 pathogenic
NM_000398.7(CYB5R3):c.173G>A (p.Arg58Gln) single nucleotide variant CYB5R3-related disorder [RCV003415596]|METHEMOGLOBINEMIA, TYPE I [RCV000000259]|not provided [RCV002512600] Chr22:42631431 [GRCh38]
Chr22:43027437 [GRCh37]
Chr22:22q13.2		 pathogenic|likely pathogenic
NM_000398.7(CYB5R3):c.446T>C (p.Leu149Pro) single nucleotide variant METHEMOGLOBINEMIA, TYPE I [RCV000000260] Chr22:42628169 [GRCh38]
Chr22:43024175 [GRCh37]
Chr22:22q13.2		 pathogenic
NM_000398.7(CYB5R3):c.316G>A (p.Val106Met) single nucleotide variant METHEMOGLOBINEMIA, TYPE I [RCV000000261]|not provided [RCV001851507] Chr22:42630899 [GRCh38]
Chr22:43026905 [GRCh37]
Chr22:22q13.2		 pathogenic|uncertain significance
NM_000398.7(CYB5R3):c.734-1G>T single nucleotide variant METHEMOGLOBINEMIA, TYPE II [RCV000000262] Chr22:42619946 [GRCh38]
Chr22:43015952 [GRCh37]
Chr22:22q13.2		 pathogenic
NM_000398.7(CYB5R3):c.463+8G>C single nucleotide variant METHEMOGLOBINEMIA, TYPE II [RCV000000263] Chr22:42628144 [GRCh38]
Chr22:43024150 [GRCh37]
Chr22:22q13.2		 pathogenic
NM_000398.7(CYB5R3):c.655C>T (p.Arg219Ter) single nucleotide variant METHEMOGLOBINEMIA, TYPE II [RCV000000264] Chr22:42623867 [GRCh38]
Chr22:43019873 [GRCh37]
Chr22:22q13.2		 pathogenic
NM_000398.7(CYB5R3):c.610T>C (p.Cys204Arg) single nucleotide variant METHEMOGLOBINEMIA, TYPE II [RCV000000265] Chr22:42627327 [GRCh38]
Chr22:43023333 [GRCh37]
Chr22:22q13.2		 pathogenic
NM_000398.7(CYB5R3):c.817_819del (p.Met273del) deletion METHEMOGLOBINEMIA, TYPE II [RCV000000266] Chr22:42619860..42619862 [GRCh38]
Chr22:43015866..43015868 [GRCh37]
Chr22:22q13.2		 pathogenic
NM_000398.7(CYB5R3):c.895_897del (p.Phe299del) deletion METHEMOGLOBINEMIA, TYPE II [RCV000000267] Chr22:42619782..42619784 [GRCh38]
Chr22:43015788..43015790 [GRCh37]
Chr22:22q13.2		 pathogenic
NM_000398.7(CYB5R3):c.350C>G (p.Thr117Ser) single nucleotide variant CYB5R3 POLYMORPHISM [RCV000000268]|not provided [RCV001610285]|not specified [RCV000249451] Chr22:42628265 [GRCh38]
Chr22:43024271 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.464-2A>C single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV000986216]|METHEMOGLOBINEMIA, TYPE II [RCV000000269]|not provided [RCV001390260] Chr22:42627690 [GRCh38]
Chr22:43023696 [GRCh37]
Chr22:22q13.2		 pathogenic|likely pathogenic
NM_000398.7(CYB5R3):c.218T>C (p.Leu73Pro) single nucleotide variant METHEMOGLOBINEMIA, TYPE I [RCV000000270] Chr22:42631386 [GRCh38]
Chr22:43027392 [GRCh37]
Chr22:22q13.2		 pathogenic
NM_000398.7(CYB5R3):c.229C>T (p.Gln77Ter) single nucleotide variant METHEMOGLOBINEMIA, TYPE II [RCV000000271]|not provided [RCV004700173] Chr22:42630986 [GRCh38]
Chr22:43026992 [GRCh37]
Chr22:22q13.2		 pathogenic
NM_000398.7(CYB5R3):c.478C>T (p.Arg160Ter) single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV003485516]|METHEMOGLOBINEMIA, TYPE II [RCV000000272]|not provided [RCV000578723] Chr22:42627674 [GRCh38]
Chr22:43023680 [GRCh37]
Chr22:22q13.2		 pathogenic
NM_000398.7(CYB5R3):c.611G>A (p.Cys204Tyr) single nucleotide variant Hereditary methemoglobinemia [RCV003764501]|METHEMOGLOBINEMIA, TYPE I [RCV000000273] Chr22:42627326 [GRCh38]
Chr22:43023332 [GRCh37]
Chr22:22q13.2		 pathogenic
NM_000398.7(CYB5R3):c.875G>A (p.Gly292Asp) single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV003330378]|METHEMOGLOBINEMIA, TYPE I [RCV000000274]|not provided [RCV002267795] Chr22:42619804 [GRCh38]
Chr22:43015810 [GRCh37]
Chr22:22q13.2		 pathogenic|likely pathogenic
NM_000398.7(CYB5R3):c.763GAG[1] (p.Glu256del) microsatellite METHEMOGLOBINEMIA, TYPE I [RCV000000275] Chr22:42619911..42619913 [GRCh38]
Chr22:43015917..43015919 [GRCh37]
Chr22:22q13.2		 pathogenic
NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly) single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV002490285]|METHEMOGLOBINEMIA, TYPE I [RCV000000276]|not provided [RCV004791183] Chr22:42623803 [GRCh38]
Chr22:43019809 [GRCh37]
Chr22:22q13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|See cases [RCV000051370] Chr22:42138114..50739836 [GRCh38]
Chr22:42513525..51178264 [GRCh37]
Chr22:40843471..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1 copy number loss See cases [RCV000051371] Chr22:42433752..50738932 [GRCh38]
Chr22:42829758..51177360 [GRCh37]
Chr22:41159702..49524226 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3 copy number gain See cases [RCV000051686] Chr22:42599757..50725241 [GRCh38]
Chr22:42995763..51163669 [GRCh37]
Chr22:41325707..49510535 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
NM_000398.6(CYB5R3):c.270C>T (p.Val90=) single nucleotide variant Malignant melanoma [RCV000063923] Chr22:42630945 [GRCh38]
Chr22:43026951 [GRCh37]
Chr22:41356895 [NCBI36]
Chr22:22q13.2		 not provided
NM_000398.7(CYB5R3):c.437G>C (p.Ser146Thr) single nucleotide variant Intellectual disability [RCV001291090] Chr22:42628178 [GRCh38]
Chr22:43024184 [GRCh37]
Chr22:22q13.2		 uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
NM_000398.7(CYB5R3):c.21+4827C>T single nucleotide variant not provided [RCV001812390] Chr22:42644468 [GRCh38]
Chr22:43040474 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.21+6C>T single nucleotide variant CYB5R3-related disorder [RCV004754721]|not provided [RCV001813054] Chr22:42649289 [GRCh38]
Chr22:43045295 [GRCh37]
Chr22:22q13.2		 benign
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4 copy number gain See cases [RCV000135528] Chr22:42197923..47305564 [GRCh38]
Chr22:42593929..47701314 [GRCh37]
Chr22:40923873..46079978 [NCBI36]
Chr22:22q13.2-13.31		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1 copy number loss See cases [RCV000136786] Chr22:42493445..50268479 [GRCh38]
Chr22:42889451..50706908 [GRCh37]
Chr22:41219395..49049035 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3 copy number gain See cases [RCV000141659] Chr22:42380961..50759410 [GRCh38]
Chr22:42776967..51197838 [GRCh37]
Chr22:41106911..49544704 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3 copy number gain See cases [RCV000142755] Chr22:42080077..50739836 [GRCh38]
Chr22:42476081..51178264 [GRCh37]
Chr22:40806027..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) copy number loss Phelan-McDermid syndrome [RCV000767745] Chr22:42416026..51181759 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_000398.7(CYB5R3):c.575G>A (p.Arg192His) single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV002487108]|Inborn genetic diseases [RCV004020978]|not provided [RCV002518510]|not specified [RCV000238951] Chr22:42627362 [GRCh38]
Chr22:43023368 [GRCh37]
Chr22:22q13.2		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_000398.7(CYB5R3):c.132G>A (p.Pro44=) single nucleotide variant not provided [RCV001689793]|not specified [RCV000251674] Chr22:42636736 [GRCh38]
Chr22:43032742 [GRCh37]
Chr22:22q13.2		 benign
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33		 pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33		 pathogenic
NM_000398.7(CYB5R3):c.22-18C>A single nucleotide variant not provided [RCV001610573]|not specified [RCV000243449] Chr22:42636864 [GRCh38]
Chr22:43032870 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.806C>T (p.Pro269Leu) single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV001270756]|not provided [RCV002541655] Chr22:42619873 [GRCh38]
Chr22:43015879 [GRCh37]
Chr22:22q13.2		 likely pathogenic|uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.2(chr22:42661143-43492962)x3 copy number gain See cases [RCV000447751] Chr22:42661143..43492962 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.250C>T (p.Arg84Ter) single nucleotide variant not provided [RCV000498827] Chr22:42630965 [GRCh38]
Chr22:43026971 [GRCh37]
Chr22:22q13.2		 pathogenic
NM_000398.7(CYB5R3):c.535G>C (p.Ala179Pro) single nucleotide variant not provided [RCV000492877] Chr22:42627617 [GRCh38]
Chr22:43023623 [GRCh37]
Chr22:22q13.2		 likely pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1 copy number loss See cases [RCV000510765] Chr22:42441918..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met) single nucleotide variant Central core myopathy [RCV004813125]|Deficiency of cytochrome-b5 reductase [RCV002498895]|Hereditary methemoglobinemia [RCV000601950]|not provided [RCV001811091] Chr22:42619922 [GRCh38]
Chr22:43015928 [GRCh37]
Chr22:22q13.2		 pathogenic|likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1 copy number loss not provided [RCV000684529] Chr22:42955616..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_000398.7(CYB5R3):c.493T>C (p.Ser165Pro) single nucleotide variant Central core myopathy [RCV004813461] Chr22:42627659 [GRCh38]
Chr22:43023665 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.349A>G (p.Thr117Ala) single nucleotide variant Inborn genetic diseases [RCV004973240]|not specified [RCV001002043] Chr22:42628266 [GRCh38]
Chr22:43024272 [GRCh37]
Chr22:22q13.2		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_000398.7(CYB5R3):c.21+4428C>T single nucleotide variant not provided [RCV001679167] Chr22:42644867 [GRCh38]
Chr22:43040873 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.463+178C>T single nucleotide variant not provided [RCV001669339] Chr22:42627974 [GRCh38]
Chr22:43023980 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.463+219C>A single nucleotide variant not provided [RCV001709765] Chr22:42627933 [GRCh38]
Chr22:43023939 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.21+4508C>T single nucleotide variant not provided [RCV001641646] Chr22:42644787 [GRCh38]
Chr22:43040793 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.21+5219T>C single nucleotide variant not provided [RCV001643678] Chr22:42644076 [GRCh38]
Chr22:43040082 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.547+76T>C single nucleotide variant not provided [RCV001679472] Chr22:42627529 [GRCh38]
Chr22:43023535 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.66G>A (p.Leu22=) single nucleotide variant not provided [RCV000905026] Chr22:42636802 [GRCh38]
Chr22:43032808 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.153+9C>T single nucleotide variant not provided [RCV000983396] Chr22:42636706 [GRCh38]
Chr22:43032712 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.734-8C>T single nucleotide variant not provided [RCV000879367] Chr22:42619953 [GRCh38]
Chr22:43015959 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.471C>T (p.Phe157=) single nucleotide variant CYB5R3-related disorder [RCV003942833]|not provided [RCV000919913] Chr22:42627681 [GRCh38]
Chr22:43023687 [GRCh37]
Chr22:22q13.2		 benign|likely benign
NM_000398.7(CYB5R3):c.117G>A (p.Pro39=) single nucleotide variant not provided [RCV000899804] Chr22:42636751 [GRCh38]
Chr22:43032757 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.564G>A (p.Leu188=) single nucleotide variant not provided [RCV000880709] Chr22:42627373 [GRCh38]
Chr22:43023379 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.171C>T (p.Thr57=) single nucleotide variant not provided [RCV000982448] Chr22:42631433 [GRCh38]
Chr22:43027439 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.548-13G>A single nucleotide variant not provided [RCV001813094] Chr22:42627402 [GRCh38]
Chr22:43023408 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.31A>G (p.Met11Val) single nucleotide variant not provided [RCV000896169] Chr22:42636837 [GRCh38]
Chr22:43032843 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.890G>A (p.Arg297His) single nucleotide variant CYB5R3-related disorder [RCV003908142]|Neurodevelopmental delay [RCV000856706]|not provided [RCV000949631] Chr22:42619789 [GRCh38]
Chr22:43015795 [GRCh37]
Chr22:22q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000398.7(CYB5R3):c.558G>A (p.Pro186=) single nucleotide variant not provided [RCV000896422] Chr22:42627379 [GRCh38]
Chr22:43023385 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.547+7G>A single nucleotide variant CYB5R3-related disorder [RCV003940404]|not provided [RCV000880356] Chr22:42627598 [GRCh38]
Chr22:43023604 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.537G>A (p.Ala179=) single nucleotide variant not provided [RCV000915138] Chr22:42627615 [GRCh38]
Chr22:43023621 [GRCh37]
Chr22:22q13.2		 benign|likely benign
NM_000398.7(CYB5R3):c.352C>T (p.His118Tyr) single nucleotide variant METHEMOGLOBINEMIA, TYPE I [RCV001027445]|not provided [RCV000997941] Chr22:42628263 [GRCh38]
Chr22:43024269 [GRCh37]
Chr22:22q13.2		 pathogenic|uncertain significance
NM_000398.7(CYB5R3):c.45A>G (p.Pro15=) single nucleotide variant not provided [RCV000897687] Chr22:42636823 [GRCh38]
Chr22:43032829 [GRCh37]
Chr22:22q13.2		 benign|likely benign
GRCh37/hg19 22q13.2(chr22:42724042-43879561)x3 copy number gain not provided [RCV000845848] Chr22:42724042..43879561 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.226+2T>C single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV000986217] Chr22:42631376 [GRCh38]
Chr22:43027382 [GRCh37]
Chr22:22q13.2		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_000398.7(CYB5R3):c.274C>T (p.Arg92Trp) single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV003128217] Chr22:42630941 [GRCh38]
Chr22:43026947 [GRCh37]
Chr22:22q13.2		 likely pathogenic
NM_000398.7(CYB5R3):c.463+7C>T single nucleotide variant not provided [RCV003106790] Chr22:42628145 [GRCh38]
Chr22:43024151 [GRCh37]
Chr22:22q13.2		 likely benign
NC_000022.11:g.42649566C>A single nucleotide variant not provided [RCV001639013] Chr22:42649566 [GRCh38]
Chr22:43045572 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.*287C>A single nucleotide variant not provided [RCV001681292] Chr22:42619486 [GRCh38]
Chr22:43015492 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.634-275G>A single nucleotide variant not provided [RCV001639200] Chr22:42624163 [GRCh38]
Chr22:43020169 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.21+4462G>A single nucleotide variant not provided [RCV001691474] Chr22:42644833 [GRCh38]
Chr22:43040839 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.154-174G>A single nucleotide variant not provided [RCV001685622] Chr22:42631624 [GRCh38]
Chr22:43027630 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.*63A>G single nucleotide variant not provided [RCV001698548] Chr22:42619710 [GRCh38]
Chr22:43015716 [GRCh37]
Chr22:22q13.2		 benign
NC_000022.11:g.42649452G>T single nucleotide variant not provided [RCV001609988] Chr22:42649452 [GRCh38]
Chr22:43045458 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.297C>T (p.Ser99=) single nucleotide variant not provided [RCV000887950] Chr22:42630918 [GRCh38]
Chr22:43026924 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.898G>A (p.Val300Ile) single nucleotide variant not provided [RCV000959693] Chr22:42619781 [GRCh38]
Chr22:42619781..42619782 [GRCh38]
Chr22:43015787 [GRCh37]
Chr22:43015787..43015788 [GRCh37]
Chr22:22q13.2		 benign|likely benign
NM_000398.7(CYB5R3):c.756C>T (p.Phe252=) single nucleotide variant not provided [RCV000929954] Chr22:42619923 [GRCh38]
Chr22:43015929 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.432C>T (p.Gly144=) single nucleotide variant not provided [RCV000959694] Chr22:42628183 [GRCh38]
Chr22:43024189 [GRCh37]
Chr22:22q13.2		 benign|likely benign
NM_000398.7(CYB5R3):c.120C>T (p.Asp40=) single nucleotide variant not provided [RCV000880238] Chr22:42636748 [GRCh38]
Chr22:43032754 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.351C>G (p.Thr117=) single nucleotide variant not provided [RCV000933382] Chr22:42628264 [GRCh38]
Chr22:43024270 [GRCh37]
Chr22:22q13.2		 likely benign
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33		 pathogenic
NM_000398.7(CYB5R3):c.463+8G>A single nucleotide variant not provided [RCV000912162] Chr22:42628144 [GRCh38]
Chr22:43024150 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.21+4661G>A single nucleotide variant not provided [RCV001678048] Chr22:42644634 [GRCh38]
Chr22:43040640 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.226+28C>T single nucleotide variant not provided [RCV001596693] Chr22:42631350 [GRCh38]
Chr22:43027356 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.334-123G>A single nucleotide variant not provided [RCV001538841] Chr22:42628404 [GRCh38]
Chr22:42628404..42628405 [GRCh38]
Chr22:43024410 [GRCh37]
Chr22:43024410..43024411 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.21+4998G>T single nucleotide variant not provided [RCV001716650] Chr22:42644297 [GRCh38]
Chr22:43040303 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.634-273G>A single nucleotide variant not provided [RCV001678465] Chr22:42624161 [GRCh38]
Chr22:43020167 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.733+259T>C single nucleotide variant not provided [RCV001635706] Chr22:42623530 [GRCh38]
Chr22:43019536 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.333+198C>T single nucleotide variant not provided [RCV001669926] Chr22:42630684 [GRCh38]
Chr22:43026690 [GRCh37]
Chr22:22q13.2		 benign
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33		 pathogenic
NM_000398.7(CYB5R3):c.547+84C>T single nucleotide variant not provided [RCV001669152] Chr22:42627521 [GRCh38]
Chr22:43023527 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.21+4494G>A single nucleotide variant not provided [RCV001684996] Chr22:42644801 [GRCh38]
Chr22:43040807 [GRCh37]
Chr22:22q13.2		 benign
NC_000022.11:g.42649689G>A single nucleotide variant not provided [RCV001616071] Chr22:42649689 [GRCh38]
Chr22:43045695 [GRCh37]
Chr22:22q13.2		 benign
NC_000022.11:g.42649616del deletion not provided [RCV001713473] Chr22:42649615 [GRCh38]
Chr22:43045621 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.21+4380G>A single nucleotide variant not provided [RCV001709347] Chr22:42644915 [GRCh38]
Chr22:43040921 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.333+272G>A single nucleotide variant not provided [RCV001647843] Chr22:42630610 [GRCh38]
Chr22:43026616 [GRCh37]
Chr22:22q13.2		 benign
NC_000022.11:g.42649637C>G single nucleotide variant not provided [RCV001708695] Chr22:42649637 [GRCh38]
Chr22:43045643 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.733+163G>T single nucleotide variant not provided [RCV001666407] Chr22:42623626 [GRCh38]
Chr22:43019632 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.103A>C (p.Thr35Pro) single nucleotide variant METHEMOGLOBINEMIA, TYPE I [RCV001027442] Chr22:42636765 [GRCh38]
Chr22:43032771 [GRCh37]
Chr22:22q13.2		 pathogenic
NM_000398.7(CYB5R3):c.310G>T (p.Gly104Cys) single nucleotide variant METHEMOGLOBINEMIA, TYPE I [RCV001027444] Chr22:42630905 [GRCh38]
Chr22:43026911 [GRCh37]
Chr22:22q13.2		 pathogenic
NM_000398.7(CYB5R3):c.137G>A (p.Arg46Gln) single nucleotide variant not provided [RCV002551697]|not specified [RCV001002533] Chr22:42636731 [GRCh38]
Chr22:43032737 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.190C>G (p.Leu64Val) single nucleotide variant METHEMOGLOBINEMIA, TYPE I [RCV001027443] Chr22:42631414 [GRCh38]
Chr22:43027420 [GRCh37]
Chr22:22q13.2		 pathogenic
NM_000398.7(CYB5R3):c.145G>C (p.Asp49His) single nucleotide variant Inborn genetic diseases [RCV002550743]|not provided [RCV001811586] Chr22:42636723 [GRCh38]
Chr22:43032729 [GRCh37]
Chr22:22q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000398.7(CYB5R3):c.733+233A>G single nucleotide variant not provided [RCV001641683] Chr22:42623556 [GRCh38]
Chr22:43019562 [GRCh37]
Chr22:22q13.2		 benign
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_000398.7(CYB5R3):c.22-3269dup duplication Deficiency of cytochrome-b5 reductase [RCV001335290] Chr22:42640108..42640109 [GRCh38]
Chr22:43036114..43036115 [GRCh37]
Chr22:22q13.2		 pathogenic
NM_000398.7(CYB5R3):c.463G>A (p.Gly155Arg) single nucleotide variant CYB5R3-related disorder [RCV004754737]|not provided [RCV001351941] Chr22:42628152 [GRCh38]
Chr22:43024158 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.21+4867C>G single nucleotide variant not provided [RCV001698677] Chr22:42644428 [GRCh38]
Chr22:43040434 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.226G>A (p.Gly76Ser) single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV001335291] Chr22:42631378 [GRCh38]
Chr22:43027384 [GRCh37]
Chr22:22q13.2		 pathogenic
Single allele deletion Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV001391668] Chr22:42440000..43780000 [GRCh37]
Chr22:22q13.2		 pathogenic
NM_000398.7(CYB5R3):c.884C>T (p.Thr295Met) single nucleotide variant not provided [RCV001810675] Chr22:42619795 [GRCh38]
Chr22:43015801 [GRCh37]
Chr22:22q13.2		 uncertain significance
Single allele deletion Intellectual disability [RCV001293376] Chr22:42333802..51195728 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_000398.7(CYB5R3):c.333+96T>C single nucleotide variant not provided [RCV001715209] Chr22:42630786 [GRCh38]
Chr22:43026792 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.830dup (p.Pro278fs) duplication Deficiency of cytochrome-b5 reductase [RCV001527675]|not provided [RCV004794541] Chr22:42619848..42619849 [GRCh38]
Chr22:43015854..43015855 [GRCh37]
Chr22:22q13.2		 pathogenic|likely pathogenic
NC_000022.11:g.42649701G>T single nucleotide variant not provided [RCV001617460] Chr22:42649701 [GRCh38]
Chr22:43045707 [GRCh37]
Chr22:22q13.2		 benign
NC_000022.11:g.42649507dup duplication not provided [RCV001650413] Chr22:42649506..42649507 [GRCh38]
Chr22:43045512..43045513 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.153+233C>G single nucleotide variant not provided [RCV001666013] Chr22:42636482 [GRCh38]
Chr22:43032488 [GRCh37]
Chr22:22q13.2		 benign
NC_000022.11:g.42649531T>C single nucleotide variant not provided [RCV001716274] Chr22:42649531 [GRCh38]
Chr22:43045537 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.89C>T (p.Ser30Phe) single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV002477930]|not provided [RCV001763036] Chr22:42636779 [GRCh38]
Chr22:43032785 [GRCh37]
Chr22:22q13.2		 uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1 copy number loss Phelan-McDermid syndrome [RCV001801178] Chr22:42321321..51244066 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_000398.7(CYB5R3):c.871G>A (p.Val291Met) single nucleotide variant not provided [RCV001767393] Chr22:42619808 [GRCh38]
Chr22:43015814 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys) single nucleotide variant CYB5R3-related disorder [RCV003394253]|Deficiency of cytochrome-b5 reductase [RCV001780904]|not provided [RCV003546714] Chr22:42627363 [GRCh38]
Chr22:43023369 [GRCh37]
Chr22:22q13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000398.7(CYB5R3):c.871_879del (p.Val291_His293del) deletion not provided [RCV001811848] Chr22:42619800..42619808 [GRCh38]
Chr22:43015806..43015814 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.903C>T (p.Phe301=) single nucleotide variant not provided [RCV001812539] Chr22:42619776 [GRCh38]
Chr22:43015782 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.463+13G>A single nucleotide variant not provided [RCV001810759] Chr22:42628139 [GRCh38]
Chr22:43024145 [GRCh37]
Chr22:22q13.2		 benign|likely benign
NM_000398.7(CYB5R3):c.21+4910G>C single nucleotide variant not provided [RCV001811943] Chr22:42644385 [GRCh38]
Chr22:43040391 [GRCh37]
Chr22:22q13.2		 uncertain significance
GRCh37/hg19 22q13.2(chr22:42955615-43866280)x1 copy number loss not provided [RCV001834501] Chr22:42955615..43866280 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.706del (p.Trp236fs) deletion not provided [RCV001949405] Chr22:42623816 [GRCh38]
Chr22:43019822 [GRCh37]
Chr22:22q13.2		 pathogenic
NC_000022.10:g.(?_43015779)_(43089957_?)del deletion not provided [RCV002002302] Chr22:43015779..43089957 [GRCh37]
Chr22:22q13.2		 uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838) copy number loss not specified [RCV002052757] Chr22:42972719..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_000398.7(CYB5R3):c.547+1G>A single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV003485758]|not provided [RCV002010977] Chr22:42627604 [GRCh38]
Chr22:43023610 [GRCh37]
Chr22:22q13.2		 likely pathogenic
NC_000022.10:g.(?_41277754)_(43089957_?)dup duplication Immunodeficiency, common variable, 4 [RCV001979926] Chr22:41277754..43089957 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.726C>T (p.Ala242=) single nucleotide variant not provided [RCV002196669] Chr22:42623796 [GRCh38]
Chr22:43019802 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.637G>A (p.Glu213Lys) single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV003485764]|not provided [RCV002162980] Chr22:42623885 [GRCh38]
Chr22:43019891 [GRCh37]
Chr22:22q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000398.7(CYB5R3):c.117G>T (p.Pro39=) single nucleotide variant not provided [RCV002141436] Chr22:42636751 [GRCh38]
Chr22:43032757 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.175C>T (p.Arg59Cys) single nucleotide variant not provided [RCV004790892] Chr22:42631429 [GRCh38]
Chr22:43027435 [GRCh37]
Chr22:22q13.2		 uncertain significance
NC_000022.10:g.(?_42456283)_(43089957_?)del deletion not provided [RCV003116409] Chr22:42456283..43089957 [GRCh37]
Chr22:22q13.2		 pathogenic
NC_000022.10:g.(?_43015779)_(43015971_?)del deletion not provided [RCV003111166] Chr22:43015779..43015971 [GRCh37]
Chr22:22q13.2		 pathogenic
NC_000022.10:g.(?_43015779)_(43024307_?)del deletion not provided [RCV003111167] Chr22:43015779..43024307 [GRCh37]
Chr22:22q13.2		 pathogenic
NM_000398.7(CYB5R3):c.577G>A (p.Ala193Thr) single nucleotide variant Inborn genetic diseases [RCV003250840]|not provided [RCV003115787] Chr22:42627360 [GRCh38]
Chr22:43023366 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.870C>G (p.His290Gln) single nucleotide variant Inborn genetic diseases [RCV004608374] Chr22:42619809 [GRCh38]
Chr22:43015815 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.28C>T (p.His10Tyr) single nucleotide variant Inborn genetic diseases [RCV004608375] Chr22:42636840 [GRCh38]
Chr22:43032846 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.102C>G (p.Ile34Met) single nucleotide variant Inborn genetic diseases [RCV004608373] Chr22:42636766 [GRCh38]
Chr22:43032772 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.708G>A (p.Trp236Ter) single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV002262175]|not provided [RCV005095926] Chr22:42623814 [GRCh38]
Chr22:43019820 [GRCh37]
Chr22:22q13.2		 pathogenic
NM_000398.7(CYB5R3):c.7del (p.Ala3fs) deletion not specified [RCV002281778] Chr22:42649309 [GRCh38]
Chr22:43045315 [GRCh37]
Chr22:22q13.2		 uncertain significance
GRCh37/hg19 22q13.2(chr22:42765874-43059475)x3 copy number gain not provided [RCV002474752] Chr22:42765874..43059475 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.507C>G (p.Ile169Met) single nucleotide variant not provided [RCV002303579] Chr22:42627645 [GRCh38]
Chr22:43023651 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.700A>G (p.Lys234Glu) single nucleotide variant not provided [RCV002294781] Chr22:42623822 [GRCh38]
Chr22:43019828 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.161G>A (p.Ser54Asn) single nucleotide variant Inborn genetic diseases [RCV002837285] Chr22:42631443 [GRCh38]
Chr22:43027449 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.367G>A (p.Ala123Thr) single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV003146673]|not provided [RCV002904553] Chr22:42628248 [GRCh38]
Chr22:43024254 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.227-14G>A single nucleotide variant not provided [RCV002881601] Chr22:42631002 [GRCh38]
Chr22:43027008 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.131C>T (p.Pro44Leu) single nucleotide variant not provided [RCV002686045] Chr22:42636737 [GRCh38]
Chr22:43032743 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.33G>A (p.Met11Ile) single nucleotide variant Inborn genetic diseases [RCV002840782] Chr22:42636835 [GRCh38]
Chr22:43032841 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.435C>T (p.Pro145=) single nucleotide variant not provided [RCV002861641] Chr22:42628180 [GRCh38]
Chr22:43024186 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.870C>T (p.His290=) single nucleotide variant CYB5R3-related disorder [RCV003936549]|not provided [RCV003080318] Chr22:42619809 [GRCh38]
Chr22:43015815 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.334-16C>T single nucleotide variant not provided [RCV002590603] Chr22:42628297 [GRCh38]
Chr22:43024303 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.63T>A (p.Ser21Arg) single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV003143510]|Inborn genetic diseases [RCV002632612]|not provided [RCV002619862] Chr22:42636805 [GRCh38]
Chr22:43032811 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.304G>A (p.Asp102Asn) single nucleotide variant not provided [RCV002592859] Chr22:42630911 [GRCh38]
Chr22:43026917 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.334-15G>A single nucleotide variant not provided [RCV002781234] Chr22:42628296 [GRCh38]
Chr22:43024302 [GRCh37]
Chr22:22q13.2		 benign|conflicting interpretations of pathogenicity
NM_000398.7(CYB5R3):c.10C>T (p.Gln4Ter) single nucleotide variant not provided [RCV002760474] Chr22:42649306 [GRCh38]
Chr22:43045312 [GRCh37]
Chr22:22q13.2		 pathogenic
NM_000398.7(CYB5R3):c.744C>T (p.Tyr248=) single nucleotide variant not provided [RCV002596019] Chr22:42619935 [GRCh38]
Chr22:43015941 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.547+12C>A single nucleotide variant not provided [RCV002594185] Chr22:42627593 [GRCh38]
Chr22:43023599 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.136C>A (p.Arg46=) single nucleotide variant not provided [RCV002575192] Chr22:42636732 [GRCh38]
Chr22:43032738 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.587A>G (p.Lys196Arg) single nucleotide variant not provided [RCV003042413] Chr22:42627350 [GRCh38]
Chr22:43023356 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.194C>G (p.Pro65Arg) single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV003143535]|Inborn genetic diseases [RCV002697884] Chr22:42631410 [GRCh38]
Chr22:43027416 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.245C>T (p.Ser82Leu) single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV003143563]|Inborn genetic diseases [RCV002983612] Chr22:42630970 [GRCh38]
Chr22:43026976 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.22-7G>A single nucleotide variant not provided [RCV002626101] Chr22:42636853 [GRCh38]
Chr22:43032859 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.433C>T (p.Pro145Ser) single nucleotide variant not provided [RCV003041417] Chr22:42628182 [GRCh38]
Chr22:43024188 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.633+17A>G single nucleotide variant not provided [RCV002625801] Chr22:42627287 [GRCh38]
Chr22:43023293 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.69C>T (p.Leu23=) single nucleotide variant not provided [RCV002710320] Chr22:42636799 [GRCh38]
Chr22:43032805 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.463+20C>G single nucleotide variant not provided [RCV003057089] Chr22:42628132 [GRCh38]
Chr22:43024138 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.153+20G>A single nucleotide variant not provided [RCV002572961] Chr22:42636695 [GRCh38]
Chr22:43032701 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.176G>A (p.Arg59His) single nucleotide variant not provided [RCV003041418] Chr22:42631428 [GRCh38]
Chr22:43027434 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.434C>T (p.Pro145Leu) single nucleotide variant not provided [RCV003041416] Chr22:42628181 [GRCh38]
Chr22:43024187 [GRCh37]
Chr22:22q13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000398.7(CYB5R3):c.408T>G (p.Ile136Met) single nucleotide variant Inborn genetic diseases [RCV002918684]|not provided [RCV002918685] Chr22:42628207 [GRCh38]
Chr22:43024213 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.547+18C>T single nucleotide variant not provided [RCV002642338] Chr22:42627587 [GRCh38]
Chr22:43023593 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.776G>A (p.Arg259Gln) single nucleotide variant not provided [RCV002575004] Chr22:42619903 [GRCh38]
Chr22:43015909 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.116C>G (p.Pro39Arg) single nucleotide variant not provided [RCV002581790] Chr22:42636752 [GRCh38]
Chr22:43032758 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.548-17G>A single nucleotide variant not provided [RCV002581407] Chr22:42627406 [GRCh38]
Chr22:43023412 [GRCh37]
Chr22:22q13.2		 likely benign|uncertain significance
NM_000398.7(CYB5R3):c.634-4G>A single nucleotide variant not provided [RCV002721027] Chr22:42623892 [GRCh38]
Chr22:43019898 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.830C>T (p.Pro277Leu) single nucleotide variant not provided [RCV002649849] Chr22:42619849 [GRCh38]
Chr22:43015855 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.536C>T (p.Ala179Val) single nucleotide variant Inborn genetic diseases [RCV002809222] Chr22:42627616 [GRCh38]
Chr22:43023622 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.479G>A (p.Arg160Gln) single nucleotide variant not provided [RCV002628374] Chr22:42627673 [GRCh38]
Chr22:43023679 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.144C>T (p.Ile48=) single nucleotide variant not provided [RCV002579005] Chr22:42636724 [GRCh38]
Chr22:43032730 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.482C>G (p.Pro161Arg) single nucleotide variant Inborn genetic diseases [RCV002719362] Chr22:42627670 [GRCh38]
Chr22:43023676 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.436A>G (p.Ser146Gly) single nucleotide variant Inborn genetic diseases [RCV002714547] Chr22:42628179 [GRCh38]
Chr22:43024185 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.464-18C>G single nucleotide variant not provided [RCV002581293] Chr22:42627706 [GRCh38]
Chr22:43023712 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.226+9C>T single nucleotide variant CYB5R3-related disorder [RCV003903718]|not provided [RCV002580060] Chr22:42631369 [GRCh38]
Chr22:43027375 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.333+5A>G single nucleotide variant Inborn genetic diseases [RCV002723062] Chr22:42630877 [GRCh38]
Chr22:43026883 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.548-12G>T single nucleotide variant not provided [RCV002653543] Chr22:42627401 [GRCh38]
Chr22:43023407 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.634-19C>T single nucleotide variant not provided [RCV002657819] Chr22:42623907 [GRCh38]
Chr22:43019913 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.153+10G>A single nucleotide variant not provided [RCV002608362] Chr22:42636705 [GRCh38]
Chr22:43032711 [GRCh37]
Chr22:22q13.2		 likely benign
NM_001165877.1(ATP5MGL):c.103A>G (p.Thr35Ala) single nucleotide variant not specified [RCV004273155] Chr22:42640172 [GRCh38]
Chr22:43036178 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.796G>C (p.Glu266Gln) single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV003145964] Chr22:42619883 [GRCh38]
Chr22:43015889 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.149G>A (p.Arg50Gln) single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV003145961]|not provided [RCV003561188] Chr22:42636719 [GRCh38]
Chr22:43032725 [GRCh37]
Chr22:22q13.2		 likely pathogenic|uncertain significance
NM_000398.7(CYB5R3):c.503T>C (p.Ile168Thr) single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV003145962] Chr22:42627649 [GRCh38]
Chr22:43023655 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.182G>A (p.Arg61His) single nucleotide variant Central core myopathy [RCV004813221]|Deficiency of cytochrome-b5 reductase [RCV003145963] Chr22:42631422 [GRCh38]
Chr22:43027428 [GRCh37]
Chr22:22q13.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000398.7(CYB5R3):c.1A>G (p.Met1Val) single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV003145958]|not provided [RCV003778858] Chr22:42649315 [GRCh38]
Chr22:43045321 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.613C>T (p.His205Tyr) single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV003145960] Chr22:42627324 [GRCh38]
Chr22:43023330 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.643G>A (p.Asp215Asn) single nucleotide variant Inborn genetic diseases [RCV003195918] Chr22:42623879 [GRCh38]
Chr22:43019885 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.130C>T (p.Pro44Ser) single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV003145959] Chr22:42636738 [GRCh38]
Chr22:43032744 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.702G>T (p.Lys234Asn) single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV003338103] Chr22:42623820 [GRCh38]
Chr22:43019826 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.164A>G (p.His55Arg) single nucleotide variant Inborn genetic diseases [RCV003364280] Chr22:42631440 [GRCh38]
Chr22:43027446 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.503T>G (p.Ile168Ser) single nucleotide variant Inborn genetic diseases [RCV003385367] Chr22:42627649 [GRCh38]
Chr22:43023655 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.16A>G (p.Ser6Gly) single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV003486052] Chr22:42649300 [GRCh38]
Chr22:43045306 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.694C>T (p.Arg232Cys) single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV003486053] Chr22:42623828 [GRCh38]
Chr22:43019834 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.394G>C (p.Glu132Gln) single nucleotide variant CYB5R3-related disorder [RCV003391512]|Deficiency of cytochrome-b5 reductase [RCV003485944]|not provided [RCV003708794] Chr22:42628221 [GRCh38]
Chr22:43024227 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_001165877.1(ATP5MGL):c.300C>G (p.Gly100=) single nucleotide variant not provided [RCV003433275] Chr22:42639975 [GRCh38]
Chr22:43035981 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.805C>A (p.Pro269Thr) single nucleotide variant not provided [RCV003545592] Chr22:42619874 [GRCh38]
Chr22:43015880 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.298G>A (p.Asp100Asn) single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV003486051] Chr22:42630917 [GRCh38]
Chr22:43026923 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.846C>T (p.Tyr282=) single nucleotide variant not provided [RCV003740332] Chr22:42619833 [GRCh38]
Chr22:43015839 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.906A>G (p.Ter302Trp) single nucleotide variant Hereditary methemoglobinemia [RCV003881713] Chr22:42619773 [GRCh38]
Chr22:43015779 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.775C>T (p.Arg259Trp) single nucleotide variant not provided [RCV003573210] Chr22:42619904 [GRCh38]
Chr22:43015910 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.807G>A (p.Pro269=) single nucleotide variant not provided [RCV003878642] Chr22:42619872 [GRCh38]
Chr22:43015878 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.464-19A>G single nucleotide variant not provided [RCV003827044] Chr22:42627707 [GRCh38]
Chr22:43023713 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.334-13G>C single nucleotide variant not provided [RCV003694859] Chr22:42628294 [GRCh38]
Chr22:43024300 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.153+16C>T single nucleotide variant not provided [RCV003828750] Chr22:42636699 [GRCh38]
Chr22:43032705 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.472G>A (p.Ala158Thr) single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV003486054]|not provided [RCV004810012] Chr22:42627680 [GRCh38]
Chr22:43023686 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.633+15C>T single nucleotide variant not provided [RCV003835257] Chr22:42627289 [GRCh38]
Chr22:43023295 [GRCh37]
Chr22:22q13.2		 benign
NM_000398.7(CYB5R3):c.22-8C>T single nucleotide variant not provided [RCV003837003] Chr22:42636854 [GRCh38]
Chr22:43032860 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.22-20C>T single nucleotide variant not provided [RCV003848782] Chr22:42636866 [GRCh38]
Chr22:43032872 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.21+4921G>C single nucleotide variant not provided [RCV003736388] Chr22:42644374 [GRCh38]
Chr22:43040380 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.861C>G (p.Asn287Lys) single nucleotide variant not provided [RCV003736473] Chr22:42619818 [GRCh38]
Chr22:43015824 [GRCh37]
Chr22:22q13.2		 uncertain significance
GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3 copy number gain not specified [RCV003986179] Chr22:39044105..45794212 [GRCh37]
Chr22:22q13.1-13.31		 pathogenic
NM_000398.7(CYB5R3):c.159C>T (p.Ile53=) single nucleotide variant not provided [RCV003721055] Chr22:42631445 [GRCh38]
Chr22:43027451 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.351C>T (p.Thr117=) single nucleotide variant not provided [RCV003735044] Chr22:42628264 [GRCh38]
Chr22:43024270 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.527G>A (p.Gly176Asp) single nucleotide variant not provided [RCV003865815] Chr22:42627625 [GRCh38]
Chr22:43023631 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.547+15C>T single nucleotide variant not provided [RCV003846892] Chr22:42627590 [GRCh38]
Chr22:43023596 [GRCh37]
Chr22:22q13.2		 likely benign
NM_001165877.1(ATP5MGL):c.139C>T (p.Pro47Ser) single nucleotide variant not specified [RCV004418656] Chr22:42640136 [GRCh38]
Chr22:43036142 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_001165877.1(ATP5MGL):c.217G>A (p.Ala73Thr) single nucleotide variant not specified [RCV004418658] Chr22:42640058 [GRCh38]
Chr22:43036064 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_001165877.1(ATP5MGL):c.287G>C (p.Arg96Pro) single nucleotide variant not specified [RCV004418660] Chr22:42639988 [GRCh38]
Chr22:43035994 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_001165877.1(ATP5MGL):c.85G>A (p.Ala29Thr) single nucleotide variant not specified [RCV004418663] Chr22:42640190 [GRCh38]
Chr22:43036196 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.862C>G (p.Leu288Val) single nucleotide variant Inborn genetic diseases [RCV004367675] Chr22:42619817 [GRCh38]
Chr22:43015823 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.405G>C (p.Gln135His) single nucleotide variant Inborn genetic diseases [RCV004367673] Chr22:42628210 [GRCh38]
Chr22:43024216 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_001165877.1(ATP5MGL):c.139C>G (p.Pro47Ala) single nucleotide variant not specified [RCV004418655] Chr22:42640136 [GRCh38]
Chr22:43036142 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_001165877.1(ATP5MGL):c.208G>A (p.Val70Ile) single nucleotide variant not specified [RCV004418657] Chr22:42640067 [GRCh38]
Chr22:43036073 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_001165877.1(ATP5MGL):c.80T>C (p.Leu27Ser) single nucleotide variant not specified [RCV004418662] Chr22:42640195 [GRCh38]
Chr22:43036201 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.235A>G (p.Ile79Val) single nucleotide variant Inborn genetic diseases [RCV004367672] Chr22:42630980 [GRCh38]
Chr22:43026986 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_001165877.1(ATP5MGL):c.287G>A (p.Arg96His) single nucleotide variant not specified [RCV004418659] Chr22:42639988 [GRCh38]
Chr22:43035994 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_001165877.1(ATP5MGL):c.79T>A (p.Leu27Met) single nucleotide variant not specified [RCV004418661] Chr22:42640196 [GRCh38]
Chr22:43036202 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.333+2_333+3dup duplication CYB5R3-related disorder [RCV003962093] Chr22:42630878..42630879 [GRCh38]
Chr22:43026884..43026885 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.440G>C (p.Gly147Ala) single nucleotide variant Deficiency of cytochrome-b5 reductase [RCV004547351] Chr22:42628175 [GRCh38]
Chr22:43024181 [GRCh37]
Chr22:22q13.2		 uncertain significance
NC_000022.10:g.(?_42564659)_(43089957_?)dup duplication not provided [RCV004579278] Chr22:42564659..43089957 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.508A>G (p.Arg170Gly) single nucleotide variant not provided [RCV004573107] Chr22:42627644 [GRCh38]
Chr22:43023650 [GRCh37]
Chr22:22q13.2		 likely pathogenic
NM_000398.7(CYB5R3):c.819G>A (p.Met273Ile) single nucleotide variant not provided [RCV004790890] Chr22:42619860 [GRCh38]
Chr22:43015866 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.403C>G (p.Gln135Glu) single nucleotide variant not provided [RCV004773961] Chr22:42628212 [GRCh38]
Chr22:43024218 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.557C>G (p.Pro186Arg) single nucleotide variant not specified [RCV004702954] Chr22:42627380 [GRCh38]
Chr22:43023386 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.592C>A (p.Pro198Thr) single nucleotide variant not provided [RCV004790891] Chr22:42627345 [GRCh38]
Chr22:43023351 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.136C>T (p.Arg46Trp) single nucleotide variant not provided [RCV004719450] Chr22:42636732 [GRCh38]
Chr22:43032738 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.59A>G (p.Tyr20Cys) single nucleotide variant Inborn genetic diseases [RCV004981412] Chr22:42636809 [GRCh38]
Chr22:43032815 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.116C>T (p.Pro39Leu) single nucleotide variant Inborn genetic diseases [RCV004981409]|not provided [RCV005061692] Chr22:42636752 [GRCh38]
Chr22:43032758 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.477C>G (p.Ile159Met) single nucleotide variant Inborn genetic diseases [RCV004981410] Chr22:42627675 [GRCh38]
Chr22:43023681 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.716T>C (p.Leu239Pro) single nucleotide variant Inborn genetic diseases [RCV004981411] Chr22:42623806 [GRCh38]
Chr22:43019812 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.361T>C (p.Phe121Leu) single nucleotide variant not provided [RCV005001766] Chr22:42628254 [GRCh38]
Chr22:43024260 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.548-13G>C single nucleotide variant not provided [RCV005066143] Chr22:42627402 [GRCh38]
Chr22:43023408 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.535G>A (p.Ala179Thr) single nucleotide variant not provided [RCV005196336] Chr22:42627617 [GRCh38]
Chr22:43023623 [GRCh37]
Chr22:22q13.2		 likely pathogenic
NM_000398.7(CYB5R3):c.403C>T (p.Gln135Ter) single nucleotide variant not provided [RCV005085595] Chr22:42628212 [GRCh38]
Chr22:43024218 [GRCh37]
Chr22:22q13.2		 pathogenic
NM_000398.7(CYB5R3):c.153+13C>T single nucleotide variant not provided [RCV005064024] Chr22:42636702 [GRCh38]
Chr22:43032708 [GRCh37]
Chr22:22q13.2		 likely benign
NM_001165877.1(ATP5MGL):c.163A>G (p.Lys55Glu) single nucleotide variant not specified [RCV004867377] Chr22:42640112 [GRCh38]
Chr22:43036118 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_000398.7(CYB5R3):c.366C>T (p.Pro122=) single nucleotide variant not provided [RCV005087108] Chr22:42628249 [GRCh38]
Chr22:43024255 [GRCh37]
Chr22:22q13.2		 likely benign
NM_001165877.1(ATP5MGL):c.169G>T (p.Val57Phe) single nucleotide variant not specified [RCV004867387] Chr22:42640106 [GRCh38]
Chr22:43036112 [GRCh37]
Chr22:22q13.2		 uncertain significance
NM_001165877.1(ATP5MGL):c.101C>G (p.Thr34Ser) single nucleotide variant not specified [RCV004867397] Chr22:42640174 [GRCh38]
Chr22:43036180 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.759G>A (p.Val253=) single nucleotide variant not provided [RCV005146357] Chr22:42619920 [GRCh38]
Chr22:43015926 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.734-5C>T single nucleotide variant not provided [RCV005172821] Chr22:42619950 [GRCh38]
Chr22:43015956 [GRCh37]
Chr22:22q13.2		 likely benign
NM_001165877.1(ATP5MGL):c.254C>T (p.Thr85Met) single nucleotide variant not specified [RCV004867367] Chr22:42640021 [GRCh38]
Chr22:43036027 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.464-9T>C single nucleotide variant not provided [RCV005071980] Chr22:42627697 [GRCh38]
Chr22:43023703 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.733+16C>G single nucleotide variant not provided [RCV005160893] Chr22:42623773 [GRCh38]
Chr22:43019779 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.243C>T (p.Leu81=) single nucleotide variant not provided [RCV005168043] Chr22:42630972 [GRCh38]
Chr22:43026978 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.201C>G (p.Pro67=) single nucleotide variant not provided [RCV005166363] Chr22:42631403 [GRCh38]
Chr22:43027409 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.548-14C>T single nucleotide variant not provided [RCV005078580] Chr22:42627403 [GRCh38]
Chr22:43023409 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.792C>G (p.Pro264=) single nucleotide variant not provided [RCV005138606] Chr22:42619887 [GRCh38]
Chr22:43015893 [GRCh37]
Chr22:22q13.2		 likely benign
NM_000398.7(CYB5R3):c.254T>A (p.Ile85Asn) single nucleotide variant not provided [RCV005200888] Chr22:42630961 [GRCh38]
Chr22:43026967 [GRCh37]
Chr22:22q13.2		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:5402
Count of miRNA genes:920
Interacting mature miRNAs:1149
Transcripts:ENST00000352397, ENST00000361740, ENST00000396303, ENST00000402438, ENST00000407332, ENST00000407623, ENST00000438270, ENST00000466276, ENST00000470741
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597486239GWAS1582313_Hceramide measurement QTL GWAS1582313 (human)4e-08ceramide measurement224262793342627934Human
597487994GWAS1584068_Hceramide measurement QTL GWAS1584068 (human)2e-18ceramide measurement224262793342627934Human
597585464GWAS1642324_Htype 2 diabetes mellitus QTL GWAS1642324 (human)1e-08type 2 diabetes mellitus224263813842638139Human
597162651GWAS1258725_Hlipid measurement QTL GWAS1258725 (human)0.0000005lipid measurementblood lipid measurement (CMO:0000050)224263565142635652Human
597487985GWAS1584059_Hceramide measurement QTL GWAS1584059 (human)8e-18ceramide measurement224262793342627934Human
597488274GWAS1584348_Hceramide measurement QTL GWAS1584348 (human)2e-29ceramide measurement224262793342627934Human
597487986GWAS1584060_Hceramide measurement QTL GWAS1584060 (human)4e-08ceramide measurement224262840442628405Human
597488275GWAS1584349_Hceramide measurement QTL GWAS1584349 (human)9e-11ceramide measurement224262840442628405Human
597487980GWAS1584054_Hceramide measurement QTL GWAS1584054 (human)3e-19ceramide measurement224262793342627934Human
597487981GWAS1584055_Hceramide measurement QTL GWAS1584055 (human)6e-09ceramide measurement224262840442628405Human
597483662GWAS1579736_Hceramide measurement QTL GWAS1579736 (human)8e-24ceramide measurement224262793342627934Human
597483663GWAS1579737_Hceramide measurement QTL GWAS1579737 (human)4e-09ceramide measurement224262840442628405Human
597411887GWAS1507961_Hadolescent idiopathic scoliosis QTL GWAS1507961 (human)0.0000004adolescent idiopathic scoliosis224263247542632476Human
597486852GWAS1582926_Hceramide measurement QTL GWAS1582926 (human)1e-13ceramide measurement224262793342627934Human
597485670GWAS1581744_Hceramide measurement QTL GWAS1581744 (human)1e-10ceramide measurement224262793342627934Human
597486855GWAS1582929_Hceramide measurement QTL GWAS1582929 (human)2e-20ceramide measurement224262793342627934Human
597024681GWAS1120755_Hinitial pursuit acceleration QTL GWAS1120755 (human)8e-10initial pursuit acceleration224261978142619782Human

Markers in Region
D16S521  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371694,296 - 94,420UniSTSGRCh37
Build 361634,296 - 34,420RGDNCBI36
Celera16296,211 - 296,339RGD
Cytogenetic Map22q13.2UniSTS
HuRef1612,751 - 12,879UniSTS
Marshfield Genetic Map161.08RGD
Marshfield Genetic Map161.08UniSTS
Genethon Genetic Map160.0UniSTS
TNG Radiation Hybrid Map16118.0UniSTS
deCODE Assembly Map161.14UniSTS
Stanford-G3 RH Map160.0UniSTS
GeneMap99-GB4 RH Map160.0UniSTS
Whitehead-RH Map166.3UniSTS
GeneMap99-G3 RH Map160.0UniSTS
AL008666  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372243,016,976 - 43,017,121UniSTSGRCh37
Build 362241,346,920 - 41,347,065RGDNCBI36
Celera2226,927,457 - 26,927,602RGD
Cytogenetic Map22q13.2UniSTS
HuRef2225,977,604 - 25,977,749UniSTS
RH27822  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372243,014,872 - 43,015,144UniSTSGRCh37
Build 362241,344,816 - 41,345,088RGDNCBI36
Celera2226,925,353 - 26,925,625RGD
Cytogenetic Map22q13.2UniSTS
HuRef2225,975,500 - 25,975,772UniSTS
D22S1545  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372243,014,874 - 43,015,008UniSTSGRCh37
Build 362241,344,818 - 41,344,952RGDNCBI36
Celera2226,925,355 - 26,925,489RGD
Cytogenetic Map22q13.2UniSTS
HuRef2225,975,502 - 25,975,636UniSTS
GeneMap99-G3 RH Map221308.0UniSTS
STS-M16462  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372243,014,895 - 43,015,049UniSTSGRCh37
Build 362241,344,839 - 41,344,993RGDNCBI36
Celera2226,925,376 - 26,925,530RGD
Cytogenetic Map22q13.2UniSTS
HuRef2225,975,523 - 25,975,677UniSTS
GeneMap99-GB4 RH Map22140.18UniSTS
NCBI RH Map22210.6UniSTS
SHGC-7735  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372243,017,112 - 43,017,257UniSTSGRCh37
Build 362241,347,056 - 41,347,201RGDNCBI36
Celera2226,927,593 - 26,927,742RGD
Cytogenetic Map22q13.2UniSTS
HuRef2225,977,740 - 25,977,893UniSTS
Stanford-G3 RH Map221392.0UniSTS
RH70318  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372243,014,906 - 43,015,047UniSTSGRCh37
Build 362241,344,850 - 41,344,991RGDNCBI36
Celera2226,925,387 - 26,925,528RGD
Cytogenetic Map22q13.2UniSTS
HuRef2225,975,534 - 25,975,675UniSTS
GeneMap99-GB4 RH Map22139.42UniSTS
UniSTS:483707  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372243,035,897 - 43,036,318UniSTSGRCh37
Build 362241,365,841 - 41,366,262RGDNCBI36
Celera2226,946,379 - 26,946,800RGD
HuRef2225,996,441 - 25,996,862UniSTS
D8S2278  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3p25.3-p24.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic MapXp22.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map12q14.3-q15UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q31UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
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Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
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Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
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Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
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Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
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Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
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Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
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Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
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Cytogenetic Map7p11.2UniSTS
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Cytogenetic Map12qUniSTS
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Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
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Cytogenetic Map3q22.3UniSTS
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Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
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Cytogenetic Map11q14UniSTS
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Cytogenetic Map3p14.3UniSTS
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Cytogenetic Map6p21.2UniSTS
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Cytogenetic Map7q34UniSTS
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Cytogenetic Map20pter-q12UniSTS
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Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
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Cytogenetic Map10q23UniSTS
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Cytogenetic Map1p33UniSTS
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Cytogenetic Map1q43UniSTS
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Cytogenetic Map15q13.1UniSTS
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Cytogenetic Map3p21UniSTS
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Cytogenetic Map19q13.31UniSTS
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Cytogenetic Map6q24.1UniSTS
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Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
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Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
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Cytogenetic Map1q22-q23UniSTS
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Cytogenetic Map5q13UniSTS
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Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
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Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
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Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
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Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
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Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
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Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
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Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
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Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
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Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
STS-D29393  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map22q13.2UniSTS
HuRef2225,975,522 - 25,975,677UniSTS
GeneMap99-GB4 RH Map22140.18UniSTS
NCBI RH Map22210.6UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
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Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
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Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
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Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
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Cytogenetic Map18p11.31-p11.21UniSTS
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Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
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Cytogenetic Map15q21UniSTS
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Cytogenetic Map8p23-p22UniSTS
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Cytogenetic Map13q11UniSTS
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Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
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Cytogenetic Map2q33.2UniSTS
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Cytogenetic Map1p35-p34.3UniSTS
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Cytogenetic Map12p13.3UniSTS
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Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
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Cytogenetic Map1q22UniSTS
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Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
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Cytogenetic Map12p12UniSTS
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Cytogenetic Map6p25UniSTS
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Cytogenetic Map5q13UniSTS
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Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
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Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
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Cytogenetic Map14q22.1UniSTS
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Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
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Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
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Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
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Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS
RH80030  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map12q15-q21UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2p22.2UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map11q22.2-q22.3UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map10q26.13-q26.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map2q32.2UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2435 2788 2252 4957 1726 2351 5 623 1951 465 2269 7299 6470 53 3719 1 852 1744 1616 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001129819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001171660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001171661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF061830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF061831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF361370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH004793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ310899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ310900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY341030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY421733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY421734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY421735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM564146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP425383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT009821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX334220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX366240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB118906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA268749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA548643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA966919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB029897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M16461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M16462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y09501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z93241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000352397   ⟹   ENSP00000338461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,617,840 - 42,649,392 (-)Ensembl
Ensembl Acc Id: ENST00000361740   ⟹   ENSP00000354468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,617,840 - 42,649,392 (-)Ensembl
Ensembl Acc Id: ENST00000402438   ⟹   ENSP00000385679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,618,860 - 42,646,972 (-)Ensembl
Ensembl Acc Id: ENST00000407332   ⟹   ENSP00000384457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,618,813 - 42,649,335 (-)Ensembl
Ensembl Acc Id: ENST00000407623   ⟹   ENSP00000384834
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,618,846 - 42,646,977 (-)Ensembl
Ensembl Acc Id: ENST00000438270   ⟹   ENSP00000403439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,627,605 - 42,646,972 (-)Ensembl
Ensembl Acc Id: ENST00000466276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,630,611 - 42,649,382 (-)Ensembl
Ensembl Acc Id: ENST00000470741
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,618,875 - 42,633,348 (-)Ensembl
Ensembl Acc Id: ENST00000684963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,618,813 - 42,629,891 (-)Ensembl
Ensembl Acc Id: ENST00000685184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,618,816 - 42,624,113 (-)Ensembl
Ensembl Acc Id: ENST00000686129   ⟹   ENSP00000508623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,628,152 - 42,720,870 (-)Ensembl
Ensembl Acc Id: ENST00000686523   ⟹   ENSP00000508940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,618,813 - 42,649,341 (-)Ensembl
Ensembl Acc Id: ENST00000687183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,618,818 - 42,649,376 (-)Ensembl
Ensembl Acc Id: ENST00000687198   ⟹   ENSP00000508492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,618,813 - 42,647,070 (-)Ensembl
Ensembl Acc Id: ENST00000688004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,636,331 - 42,649,360 (-)Ensembl
Ensembl Acc Id: ENST00000688117   ⟹   ENSP00000509015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,618,809 - 42,644,634 (-)Ensembl
Ensembl Acc Id: ENST00000688244   ⟹   ENSP00000510355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,619,449 - 42,649,384 (-)Ensembl
Ensembl Acc Id: ENST00000689001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,618,813 - 42,646,679 (-)Ensembl
Ensembl Acc Id: ENST00000689195   ⟹   ENSP00000509895
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,618,988 - 42,649,362 (-)Ensembl
Ensembl Acc Id: ENST00000689239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,619,714 - 42,649,352 (-)Ensembl
Ensembl Acc Id: ENST00000689795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,618,813 - 42,649,347 (-)Ensembl
Ensembl Acc Id: ENST00000690835   ⟹   ENSP00000509038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,618,901 - 42,649,352 (-)Ensembl
Ensembl Acc Id: ENST00000690993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,619,479 - 42,649,392 (-)Ensembl
Ensembl Acc Id: ENST00000691295   ⟹   ENSP00000508706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,618,837 - 42,649,366 (-)Ensembl
Ensembl Acc Id: ENST00000691918   ⟹   ENSP00000509525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,623,789 - 42,636,846 (-)Ensembl
Ensembl Acc Id: ENST00000692152   ⟹   ENSP00000509317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,618,813 - 42,662,957 (-)Ensembl
Ensembl Acc Id: ENST00000692344
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,619,727 - 42,649,339 (-)Ensembl
Ensembl Acc Id: ENST00000693157   ⟹   ENSP00000510610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,628,152 - 42,636,846 (-)Ensembl
Ensembl Acc Id: ENST00000693363   ⟹   ENSP00000510411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,618,813 - 42,649,362 (-)Ensembl
Ensembl Acc Id: ENST00000693367   ⟹   ENSP00000508815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,615,730 - 42,649,322 (-)Ensembl
Ensembl Acc Id: ENST00000693639   ⟹   ENSP00000510223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,623,789 - 42,636,846 (-)Ensembl
Ensembl Acc Id: ENST00000693646   ⟹   ENSP00000508449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,623,789 - 42,636,846 (-)Ensembl
Ensembl Acc Id: ENST00000693716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2242,630,892 - 42,684,939 (-)Ensembl
RefSeq Acc Id: NM_000398   ⟹   NP_000389
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382242,617,840 - 42,649,392 (-)NCBI
GRCh372243,013,846 - 43,045,405 (-)ENTREZGENE
Build 362241,344,763 - 41,375,349 (-)NCBI Archive
HuRef2225,974,473 - 26,005,949 (-)ENTREZGENE
CHM1_12242,972,995 - 43,004,519 (-)NCBI
T2T-CHM13v2.02243,098,710 - 43,130,267 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001129819   ⟹   NP_001123291
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382242,617,840 - 42,646,989 (-)NCBI
GRCh372243,013,846 - 43,045,405 (-)ENTREZGENE
HuRef2225,974,473 - 26,005,949 (-)ENTREZGENE
CHM1_12242,972,995 - 43,002,109 (-)NCBI
T2T-CHM13v2.02243,098,710 - 43,127,864 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001171660   ⟹   NP_001165131
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382242,617,840 - 42,644,626 (-)NCBI
GRCh372243,013,846 - 43,045,405 (-)ENTREZGENE
HuRef2225,974,473 - 26,005,949 (-)ENTREZGENE
CHM1_12242,972,995 - 42,999,754 (-)NCBI
T2T-CHM13v2.02243,098,710 - 43,125,501 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001171661   ⟹   NP_001165132
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382242,617,840 - 42,646,989 (-)NCBI
GRCh372243,013,846 - 43,045,405 (-)ENTREZGENE
HuRef2225,974,473 - 26,005,949 (-)ENTREZGENE
CHM1_12242,972,995 - 43,002,109 (-)NCBI
T2T-CHM13v2.02243,098,710 - 43,127,864 (-)NCBI
Sequence:
RefSeq Acc Id: NM_007326   ⟹   NP_015565
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382242,617,840 - 42,646,989 (-)NCBI
GRCh372243,013,846 - 43,045,405 (-)ENTREZGENE
Build 362241,344,763 - 41,372,962 (-)NCBI Archive
HuRef2225,974,473 - 26,005,949 (-)ENTREZGENE
CHM1_12242,972,995 - 43,002,109 (-)NCBI
T2T-CHM13v2.02243,098,710 - 43,127,864 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047441183   ⟹   XP_047297139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382242,617,840 - 42,646,989 (-)NCBI
RefSeq Acc Id: XM_054325224   ⟹   XP_054181199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02243,098,710 - 43,127,864 (-)NCBI
Protein Sequences
Protein RefSeqs NP_000389 (Get FASTA)   NCBI Sequence Viewer  
  NP_001123291 (Get FASTA)   NCBI Sequence Viewer  
  NP_001165131 (Get FASTA)   NCBI Sequence Viewer  
  NP_001165132 (Get FASTA)   NCBI Sequence Viewer  
  NP_015565 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297139 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181199 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52306 (Get FASTA)   NCBI Sequence Viewer  
  AAA52307 (Get FASTA)   NCBI Sequence Viewer  
  AAA59900 (Get FASTA)   NCBI Sequence Viewer  
  AAB35212 (Get FASTA)   NCBI Sequence Viewer  
  AAF06818 (Get FASTA)   NCBI Sequence Viewer  
  AAF06819 (Get FASTA)   NCBI Sequence Viewer  
  AAH04821 (Get FASTA)   NCBI Sequence Viewer  
  AAL87744 (Get FASTA)   NCBI Sequence Viewer  
  AAP88823 (Get FASTA)   NCBI Sequence Viewer  
  AAP88936 (Get FASTA)   NCBI Sequence Viewer  
  AAR38507 (Get FASTA)   NCBI Sequence Viewer  
  AAR38508 (Get FASTA)   NCBI Sequence Viewer  
  AAR38509 (Get FASTA)   NCBI Sequence Viewer  
  BAC85875 (Get FASTA)   NCBI Sequence Viewer  
  BAH13649 (Get FASTA)   NCBI Sequence Viewer  
  CAA09006 (Get FASTA)   NCBI Sequence Viewer  
  CAA09007 (Get FASTA)   NCBI Sequence Viewer  
  CAA09008 (Get FASTA)   NCBI Sequence Viewer  
  CAA70696 (Get FASTA)   NCBI Sequence Viewer  
  CAC84523 (Get FASTA)   NCBI Sequence Viewer  
  CAC84524 (Get FASTA)   NCBI Sequence Viewer  
  CAG30321 (Get FASTA)   NCBI Sequence Viewer  
  EAW73268 (Get FASTA)   NCBI Sequence Viewer  
  EAW73269 (Get FASTA)   NCBI Sequence Viewer  
  EAW73270 (Get FASTA)   NCBI Sequence Viewer  
  EAW73271 (Get FASTA)   NCBI Sequence Viewer  
  EAW73272 (Get FASTA)   NCBI Sequence Viewer  
  EAW73273 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000338461
  ENSP00000338461.6
  ENSP00000354468.5
  ENSP00000384457.2
  ENSP00000384834
  ENSP00000384834.3
  ENSP00000385679
  ENSP00000385679.1
  ENSP00000403439.2
  ENSP00000508449.1
  ENSP00000508492
  ENSP00000508492.1
  ENSP00000508623.1
  ENSP00000508706.1
  ENSP00000508815.1
  ENSP00000508940.1
  ENSP00000509015
  ENSP00000509015.1
  ENSP00000509038.1
  ENSP00000509317.1
  ENSP00000509525.1
  ENSP00000509895.1
  ENSP00000510223.1
  ENSP00000510355.1
  ENSP00000510411.1
  ENSP00000510610.1
GenBank Protein P00387 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000389   ⟸   NM_000398
- Peptide Label: isoform 1
- UniProtKB: Q9UL55 (UniProtKB/Swiss-Prot),   Q9UEN5 (UniProtKB/Swiss-Prot),   Q9UEN4 (UniProtKB/Swiss-Prot),   Q8WTS8 (UniProtKB/Swiss-Prot),   Q8TDL8 (UniProtKB/Swiss-Prot),   O75675 (UniProtKB/Swiss-Prot),   B7Z7L3 (UniProtKB/Swiss-Prot),   B1AHF2 (UniProtKB/Swiss-Prot),   Q9UL56 (UniProtKB/Swiss-Prot),   P00387 (UniProtKB/Swiss-Prot),   A0A8J8Z3C6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_015565   ⟸   NM_007326
- Peptide Label: isoform 2
- UniProtKB: A0A8J8Z3C6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001165132   ⟸   NM_001171661
- Peptide Label: isoform 2
- UniProtKB: A0A8J8Z3C6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001123291   ⟸   NM_001129819
- Peptide Label: isoform 2
- UniProtKB: A0A8J8Z3C6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001165131   ⟸   NM_001171660
- Peptide Label: isoform 3
- UniProtKB: A0A8J8Z3C6 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000403439   ⟸   ENST00000438270
Ensembl Acc Id: ENSP00000354468   ⟸   ENST00000361740
Ensembl Acc Id: ENSP00000385679   ⟸   ENST00000402438
Ensembl Acc Id: ENSP00000338461   ⟸   ENST00000352397
Ensembl Acc Id: ENSP00000384457   ⟸   ENST00000407332
Ensembl Acc Id: ENSP00000384834   ⟸   ENST00000407623
Ensembl Acc Id: ENSP00000509317   ⟸   ENST00000692152
Ensembl Acc Id: ENSP00000509015   ⟸   ENST00000688117
Ensembl Acc Id: ENSP00000509525   ⟸   ENST00000691918
Ensembl Acc Id: ENSP00000508940   ⟸   ENST00000686523
Ensembl Acc Id: ENSP00000510355   ⟸   ENST00000688244
Ensembl Acc Id: ENSP00000510411   ⟸   ENST00000693363
Ensembl Acc Id: ENSP00000508815   ⟸   ENST00000693367
Ensembl Acc Id: ENSP00000508623   ⟸   ENST00000686129
Ensembl Acc Id: ENSP00000509895   ⟸   ENST00000689195
Ensembl Acc Id: ENSP00000510223   ⟸   ENST00000693639
Ensembl Acc Id: ENSP00000508706   ⟸   ENST00000691295
Ensembl Acc Id: ENSP00000510610   ⟸   ENST00000693157
Ensembl Acc Id: ENSP00000508492   ⟸   ENST00000687198
Ensembl Acc Id: ENSP00000509038   ⟸   ENST00000690835
Ensembl Acc Id: ENSP00000508449   ⟸   ENST00000693646
RefSeq Acc Id: XP_047297139   ⟸   XM_047441183
- Peptide Label: isoform X1
- UniProtKB: A0A8J8Z3C6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181199   ⟸   XM_054325224
- Peptide Label: isoform X1
- UniProtKB: A0A8J8Z3C6 (UniProtKB/TrEMBL)
Protein Domains
FAD-binding FR-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P00387-F1-model_v2 AlphaFold P00387 1-301 view protein structure

Promoters
RGD ID:6799801
Promoter ID:HG_KWN:43080
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562
Transcripts:NM_001171660
Position:
Human AssemblyChrPosition (strand)Source
Build 362241,370,366 - 41,371,467 (-)MPROMDB
RGD ID:6799803
Promoter ID:HG_KWN:43082
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000320439
Position:
Human AssemblyChrPosition (strand)Source
Build 362241,375,239 - 41,375,739 (-)MPROMDB
RGD ID:13604326
Promoter ID:EPDNEW_H28347
Type:initiation region
Name:CYB5R3_2
Description:cytochrome b5 reductase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28348  EPDNEW_H28350  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382242,649,392 - 42,649,452EPDNEW
RGD ID:13604328
Promoter ID:EPDNEW_H28348
Type:initiation region
Name:CYB5R3_3
Description:cytochrome b5 reductase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28347  EPDNEW_H28350  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382242,649,594 - 42,649,654EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2873 AgrOrtholog
COSMIC CYB5R3 COSMIC
Ensembl Genes ENSG00000100243 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000352397 ENTREZGENE
  ENST00000352397.10 UniProtKB/Swiss-Prot
  ENST00000361740.9 UniProtKB/TrEMBL
  ENST00000402438 ENTREZGENE
  ENST00000402438.6 UniProtKB/Swiss-Prot
  ENST00000407332.6 UniProtKB/TrEMBL
  ENST00000407623 ENTREZGENE
  ENST00000407623.8 UniProtKB/Swiss-Prot
  ENST00000438270.2 UniProtKB/TrEMBL
  ENST00000686129.1 UniProtKB/TrEMBL
  ENST00000686523.1 UniProtKB/TrEMBL
  ENST00000687198 ENTREZGENE
  ENST00000687198.1 UniProtKB/Swiss-Prot
  ENST00000688117 ENTREZGENE
  ENST00000688117.1 UniProtKB/Swiss-Prot
  ENST00000688244.1 UniProtKB/TrEMBL
  ENST00000689195.1 UniProtKB/TrEMBL
  ENST00000690835.1 UniProtKB/TrEMBL
  ENST00000691295.1 UniProtKB/TrEMBL
  ENST00000691918.1 UniProtKB/TrEMBL
  ENST00000692152.1 UniProtKB/Swiss-Prot
  ENST00000693157.1 UniProtKB/TrEMBL
  ENST00000693363.1 UniProtKB/TrEMBL
  ENST00000693367.1 UniProtKB/TrEMBL
  ENST00000693639.1 UniProtKB/TrEMBL
  ENST00000693646.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Translation factors UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100243 GTEx
HGNC ID HGNC:2873 ENTREZGENE
Human Proteome Map CYB5R3 Human Proteome Map
InterPro CBR-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cbr1-like_FAD-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD-bd_FR_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Flavoprot_Pyr_Nucl_cyt_Rdtase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FNR_nucleotide-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OxRdtase_FAD/NAD-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Riboflavin_synthase-like_b-brl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1727 UniProtKB/Swiss-Prot
NCBI Gene 1727 ENTREZGENE
OMIM 613213 OMIM
PANTHER NADH-CYTOCHROME B5 REDUCTASE 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR19370 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FAD_binding_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD_binding_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB CYB5R3 RGD, PharmGKB
PRINTS CYTB5RDTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FPNCR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FAD_FR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52343 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF63380 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8I5KNV1_HUMAN UniProtKB/TrEMBL
  A0A8I5KPU0_HUMAN UniProtKB/TrEMBL
  A0A8I5KR71_HUMAN UniProtKB/TrEMBL
  A0A8I5KTF9_HUMAN UniProtKB/TrEMBL
  A0A8I5KUA5_HUMAN UniProtKB/TrEMBL
  A0A8I5KVD2_HUMAN UniProtKB/TrEMBL
  A0A8I5KW26_HUMAN UniProtKB/TrEMBL
  A0A8I5KXI5_HUMAN UniProtKB/TrEMBL
  A0A8I5KYU1_HUMAN UniProtKB/TrEMBL
  A0A8I5QKL2_HUMAN UniProtKB/TrEMBL
  A0A8I5QKT9_HUMAN UniProtKB/TrEMBL
  A0A8I5QKX1_HUMAN UniProtKB/TrEMBL
  A0A8J8YWN6_HUMAN UniProtKB/TrEMBL
  A0A8J8Z3C6 ENTREZGENE, UniProtKB/TrEMBL
  B1AHF2 ENTREZGENE
  B1AHF3_HUMAN UniProtKB/TrEMBL
  B7Z7L3 ENTREZGENE
  NB5R3_HUMAN UniProtKB/Swiss-Prot
  O75675 ENTREZGENE
  P00387 ENTREZGENE
  Q8TDL8 ENTREZGENE
  Q8WTS8 ENTREZGENE
  Q9UEN4 ENTREZGENE
  Q9UEN5 ENTREZGENE
  Q9UL55 ENTREZGENE
  Q9UL56 ENTREZGENE
UniProt Secondary B1AHF2 UniProtKB/Swiss-Prot
  B7Z7L3 UniProtKB/Swiss-Prot
  O75675 UniProtKB/Swiss-Prot
  Q8TDL8 UniProtKB/Swiss-Prot
  Q8WTS8 UniProtKB/Swiss-Prot
  Q9UEN4 UniProtKB/Swiss-Prot
  Q9UEN5 UniProtKB/Swiss-Prot
  Q9UL55 UniProtKB/Swiss-Prot
  Q9UL56 UniProtKB/Swiss-Prot