SLC7A2 (solute carrier family 7 member 2) - Rat Genome Database

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Gene: SLC7A2 (solute carrier family 7 member 2) Homo sapiens
Analyze
Symbol: SLC7A2
Name: solute carrier family 7 member 2
RGD ID: 68562
HGNC Page HGNC:11060
Description: Enables L-arginine transmembrane transporter activity. Involved in L-arginine import across plasma membrane and L-arginine transmembrane transport. Located in cell junction and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: amino acid transporter, cationic 2; ATRC2; CAT-2; CAT-2A; CAT-2B; CAT2; cationic amino acid transporter 2; cationic amino acid transporter, y+ system; HCAT2; low affinity cationic amino acid transporter 2; low-affinity cationic amino acid transporter-2; SLC7A2A; SLC7A2B; solute carrier family 7 (cationic amino acid transporter, y+ system), member 2; solute carrier family 7, member 3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black 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
GRCh38817,494,069 - 17,570,566 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl817,496,975 - 17,570,573 (+)Ensemblhg38GRCh38
GRCh37817,354,597 - 17,428,075 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36817,440,665 - 17,472,352 (+)NCBIBuild 36Build 36hg18NCBI36
Build 34817,440,684 - 17,472,296NCBI
Celera816,320,372 - 16,393,730 (+)NCBICelera
Cytogenetic Map8p22NCBI
HuRef815,899,173 - 15,972,649 (+)NCBIHuRef
CHM1_1817,556,088 - 17,629,545 (+)NCBICHM1_1
T2T-CHM13v2.0817,761,599 - 17,837,697 (+)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3-iodothyronamine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (ISO)
acetamide  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP,ISO)
aldrin  (ISO)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenite(3-)  (ISO)
arsenous acid  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (ISO)
Bisphenol B  (EXP)
bisphenol F  (ISO)
Bisphenol Z  (EXP)
Butylbenzyl phthalate  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
choline  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
clofibric acid  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (ISO)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP,ISO)
cytarabine  (EXP)
diallyl trisulfide  (EXP)
diarsenic trioxide  (ISO)
dieldrin  (ISO)
dimethyl sulfoxide  (EXP)
dorsomorphin  (EXP)
drometrizole  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
furan  (ISO)
gamma-hexachlorocyclohexane  (ISO)
genistein  (ISO)
gentamycin  (ISO)
heptachlor  (ISO)
inulin  (ISO)
L-methionine  (ISO)
leflunomide  (EXP)
lipopolysaccharide  (EXP,ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
medroxyprogesterone acetate  (EXP)
mercury atom  (EXP)
mercury dibromide  (EXP)
mercury(0)  (EXP)
methapyrilene  (ISO)
methylmercury chloride  (EXP)
mirex  (ISO)
N-nitrosodiethylamine  (ISO)
nickel dichloride  (EXP)
okadaic acid  (EXP)
ozone  (EXP)
paracetamol  (EXP,ISO)
parathion  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
picene  (EXP)
pirinixic acid  (ISO)
progesterone  (EXP)
propiconazole  (ISO)
resveratrol  (ISO)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
serpentine asbestos  (EXP)
sevoflurane  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
sunitinib  (EXP)
T-2 toxin  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
Triptolide  (ISO)
troglitazone  (ISO)
trovafloxacin  (ISO)
valproic acid  (EXP,ISO)
zearalenone  (EXP)
zidovudine  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cell junction  (IDA)
membrane  (IEA)
plasma membrane  (IBA,IDA,IEA,TAS)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8954799   PMID:9040790   PMID:9174363   PMID:10756096   PMID:11665818   PMID:12477932   PMID:12787129   PMID:15064952   PMID:15489334   PMID:16344560   PMID:18029348   PMID:18172665  
PMID:18195088   PMID:20424473   PMID:20430034   PMID:20600019   PMID:21873635   PMID:22787143   PMID:22870827   PMID:23284306   PMID:23864433   PMID:24019517   PMID:24823311   PMID:26186194  
PMID:26638075   PMID:28501704   PMID:28514442   PMID:28684763   PMID:29568061   PMID:30194290   PMID:30280653   PMID:30639242   PMID:31871319   PMID:32008093   PMID:32614325   PMID:32647070  
PMID:33961781   PMID:34079125   PMID:34108444   PMID:34432599   PMID:34591612   PMID:35384245   PMID:36639771   PMID:37478010   PMID:37774976   PMID:38203268   PMID:38419038   PMID:38569033  
PMID:38842202   PMID:40355756   PMID:40437099  


Genomics

Comparative Map Data
SLC7A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38817,494,069 - 17,570,566 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl817,496,975 - 17,570,573 (+)Ensemblhg38GRCh38
GRCh37817,354,597 - 17,428,075 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36817,440,665 - 17,472,352 (+)NCBIBuild 36Build 36hg18NCBI36
Build 34817,440,684 - 17,472,296NCBI
Celera816,320,372 - 16,393,730 (+)NCBICelera
Cytogenetic Map8p22NCBI
HuRef815,899,173 - 15,972,649 (+)NCBIHuRef
CHM1_1817,556,088 - 17,629,545 (+)NCBICHM1_1
T2T-CHM13v2.0817,761,599 - 17,837,697 (+)NCBIT2T-CHM13v2.0
Slc7a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39841,315,404 - 41,375,107 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl841,315,433 - 41,375,345 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm38840,862,341 - 40,922,070 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl840,862,396 - 40,922,308 (+)Ensemblmm10GRCm38
MGSCv37841,947,721 - 42,007,424 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36842,361,229 - 42,421,125 (+)NCBIMGSCv36mm8
Celera843,496,255 - 43,555,499 (+)NCBICelera
Cytogenetic Map8A4NCBI
cM Map823.89NCBI
Slc7a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81658,115,991 - 58,174,256 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1658,120,968 - 58,174,256 (-)EnsemblGRCr8
mRatBN7.21651,417,478 - 51,470,784 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1651,417,493 - 51,470,784 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1656,736,689 - 56,789,896 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01660,136,544 - 60,189,834 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01655,370,642 - 55,423,851 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.01654,459,409 - 54,513,349 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1654,460,067 - 54,513,349 (-)Ensemblrn6Rnor6.0
Rnor_5.01654,171,102 - 54,224,384 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.41654,752,119 - 54,805,406 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera1649,310,502 - 49,363,790 (-)NCBICelera
Cytogenetic Map16q12.1NCBI
Slc7a2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555522,117,755 - 2,141,231 (-)Ensembl
ChiLan1.0NW_0049555522,117,972 - 2,141,144 (-)NCBIChiLan1.0ChiLan1.0
SLC7A2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2735,969,973 - 36,043,781 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1811,704,679 - 11,770,243 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0816,723,227 - 16,788,745 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1813,671,571 - 13,741,007 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl813,671,571 - 13,735,645 (+)EnsemblpanPan2panpan1.1
SLC7A2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11640,855,270 - 40,879,956 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1640,745,458 - 40,875,106 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha1641,312,676 - 41,387,063 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.01642,867,670 - 42,935,808 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1642,867,675 - 42,935,804 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11640,961,049 - 41,029,086 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01641,504,575 - 41,572,831 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01641,699,102 - 41,767,417 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Slc7a2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494338,425,216 - 38,494,926 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936614157,828 - 184,583 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_004936614111,625 - 184,571 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC7A2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl175,192,022 - 5,271,849 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1175,191,973 - 5,271,849 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2175,704,846 - 5,725,732 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC7A2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1815,591,795 - 15,665,837 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl815,638,113 - 15,660,487 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366605226,611,997 - 26,686,779 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc7a2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476921,681,709 - 21,757,213 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_00462476921,678,084 - 21,757,168 (-)NCBIHetGla 1.0HetGla 1.0hetGla2
Slc7a2
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v11346,638,199 - 46,691,950 (-)NCBIRrattus_CSIRO_v1

Variants

.
Variants in SLC7A2
114 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001370338.1(SLC7A2):c.1267T>C (p.Ser423Pro) single nucleotide variant not provided [RCV000727673] Chr8:17558366 [GRCh38]
Chr8:17415875 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.1-21.3(chr8:12787272-20952389)x3 copy number gain See cases [RCV000053634] Chr8:12787272..20952389 [GRCh38]
Chr8:12644781..20809900 [GRCh37]
Chr8:12689152..20854180 [NCBI36]
Chr8:8p23.1-21.3		 pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3 copy number gain See cases [RCV000053603] Chr8:241530..17678697 [GRCh38]
Chr8:191530..17536206 [GRCh37]
Chr8:181530..17580486 [NCBI36]
Chr8:8p23.3-22		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12		 pathogenic
NM_001008539.3(SLC7A2):c.355C>T (p.Leu119Phe) single nucleotide variant Malignant melanoma [RCV000068225] Chr8:17543694 [GRCh38]
Chr8:17401203 [GRCh37]
Chr8:17445582 [NCBI36]
Chr8:8p22		 not provided
NM_001008539.3(SLC7A2):c.1626C>T (p.Leu542=) single nucleotide variant Malignant melanoma [RCV000068226] Chr8:17562065 [GRCh38]
Chr8:17419574 [GRCh37]
Chr8:17463866 [NCBI36]
Chr8:8p22		 not provided
NM_001008539.3(SLC7A2):c.1947C>T (p.Phe649=) single nucleotide variant Malignant melanoma [RCV000068227] Chr8:17565116 [GRCh38]
Chr8:17422625 [GRCh37]
Chr8:17466899 [NCBI36]
Chr8:8p22		 not provided
NM_001008539.3(SLC7A2):c.1060C>T (p.Leu354Phe) single nucleotide variant Malignant melanoma [RCV000061771] Chr8:17554564 [GRCh38]
Chr8:17412073 [GRCh37]
Chr8:17456365 [NCBI36]
Chr8:8p22		 not provided
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh38/hg38 8p23.1-21.3(chr8:12732530-20436882)x3 copy number gain See cases [RCV000135294] Chr8:12732530..20436882 [GRCh38]
Chr8:12590039..20294393 [GRCh37]
Chr8:12634410..20338673 [NCBI36]
Chr8:8p23.1-21.3		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2		 pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 copy number gain See cases [RCV000135967] Chr8:241530..23198398 [GRCh38]
Chr8:191530..23055911 [GRCh37]
Chr8:181530..23111856 [NCBI36]
Chr8:8p23.3-21.3		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p22(chr8:17389229-17925178)x3 copy number gain See cases [RCV000138299] Chr8:17389229..17925178 [GRCh38]
Chr8:17246738..17782687 [GRCh37]
Chr8:17291109..17826967 [NCBI36]
Chr8:8p22		 likely benign
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1		 pathogenic
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22		 pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 copy number gain See cases [RCV000239945] Chr8:12580132..26774307 [GRCh37]
Chr8:8p23.1-21.2		 pathogenic
GRCh37/hg19 8p22(chr8:17294405-17919470)x3 copy number gain See cases [RCV000598817] Chr8:17294405..17919470 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12		 pathogenic
GRCh37/hg19 8p22-21.3(chr8:15935542-19321304)x3 copy number gain See cases [RCV000446821] Chr8:15935542..19321304 [GRCh37]
Chr8:8p22-21.3		 uncertain significance
GRCh37/hg19 8p22(chr8:16657256-17861898)x3 copy number gain See cases [RCV000447330] Chr8:16657256..17861898 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh37/hg19 8p22-21.2(chr8:13091530-24483615) copy number loss See cases [RCV000447428] Chr8:13091530..24483615 [GRCh37]
Chr8:8p22-21.2		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4 copy number gain See cases [RCV000448695] Chr8:158991..17536147 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p23.1-22(chr8:11935023-18814062)x3 copy number gain See cases [RCV000510447] Chr8:11935023..18814062 [GRCh37]
Chr8:8p23.1-22		 likely pathogenic
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12		 not provided
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001370338.1(SLC7A2):c.275G>A (p.Arg92His) single nucleotide variant not specified [RCV004323539] Chr8:17543614 [GRCh38]
Chr8:17401123 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) copy number gain Autism [RCV000626542] Chr8:12580104..25947329 [GRCh37]
Chr8:8p23.1-21.2		 pathogenic
NM_001370338.1(SLC7A2):c.660T>G (p.Ile220Met) single nucleotide variant not specified [RCV004286355] Chr8:17548805 [GRCh38]
Chr8:17406314 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1111G>A (p.Gly371Arg) single nucleotide variant not specified [RCV004284426] Chr8:17554615 [GRCh38]
Chr8:17412124 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.-6G>A single nucleotide variant not specified [RCV004294418] Chr8:17543334 [GRCh38]
Chr8:17400843 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 copy number gain not provided [RCV000683041] Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2		 pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 copy number gain not provided [RCV000683042] Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p22(chr8:17174343-17523646)x3 copy number gain not provided [RCV000747443] Chr8:17174343..17523646 [GRCh37]
Chr8:8p22		 benign
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
NM_001370338.1(SLC7A2):c.1522C>T (p.Leu508=) single nucleotide variant not provided [RCV000950733] Chr8:17561961 [GRCh38]
Chr8:17419470 [GRCh37]
Chr8:8p22		 benign
NM_001370338.1(SLC7A2):c.1218C>T (p.Asp406=) single nucleotide variant not provided [RCV000967080] Chr8:17558317 [GRCh38]
Chr8:17415826 [GRCh37]
Chr8:8p22		 benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001370338.1(SLC7A2):c.1713G>C (p.Val571=) single nucleotide variant not provided [RCV000959006] Chr8:17563644 [GRCh38]
Chr8:17421153 [GRCh37]
Chr8:8p22		 benign
NM_001370338.1(SLC7A2):c.1078A>C (p.Met360Leu) single nucleotide variant not specified [RCV004683859] Chr8:17554582 [GRCh38]
Chr8:17412091 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.540G>T (p.Leu180Phe) single nucleotide variant not specified [RCV004683860] Chr8:17548685 [GRCh38]
Chr8:17406194 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001370338.1(SLC7A2):c.898T>C (p.Phe300Leu) single nucleotide variant not specified [RCV004683858] Chr8:17551829 [GRCh38]
Chr8:17409338 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh37/hg19 8p22-21.3(chr8:15935542-19321304) copy number gain not specified [RCV002053754] Chr8:15935542..19321304 [GRCh37]
Chr8:8p22-21.3		 uncertain significance
NC_000008.10:g.(?_16850399)_(20112692_?)dup duplication Hereditary spastic paraplegia 53 [RCV003120735] Chr8:16850399..20112692 [GRCh37]
Chr8:8p22-21.3		 uncertain significance
NC_000008.10:g.(?_16850399)_(17885171_?)dup duplication not provided [RCV003119958] Chr8:16850399..17885171 [GRCh37]
Chr8:8p22		 uncertain significance
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 copy number loss See cases [RCV002286343] Chr8:158048..30187456 [GRCh37]
Chr8:8p23.3-12		 pathogenic
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
NM_001370338.1(SLC7A2):c.-11C>T single nucleotide variant not specified [RCV004314056] Chr8:17543329 [GRCh38]
Chr8:17400838 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.943C>A (p.Pro315Thr) single nucleotide variant not specified [RCV004320964] Chr8:17551874 [GRCh38]
Chr8:17409383 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1 copy number loss not provided [RCV002472557] Chr8:158049..18936715 [GRCh37]
Chr8:8p23.3-22		 pathogenic
NM_001370338.1(SLC7A2):c.1195+360C>T single nucleotide variant Myoepithelial tumor [RCV002463906] Chr8:17555059 [GRCh38]
Chr8:17412568 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.468G>A (p.Met156Ile) single nucleotide variant not specified [RCV004168222] Chr8:17544542 [GRCh38]
Chr8:17402051 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1430G>A (p.Arg477Gln) single nucleotide variant not specified [RCV004153993] Chr8:17560459 [GRCh38]
Chr8:17417968 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1088T>C (p.Val363Ala) single nucleotide variant not specified [RCV004207040] Chr8:17554592 [GRCh38]
Chr8:17412101 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1535C>G (p.Thr512Ser) single nucleotide variant not specified [RCV004243795] Chr8:17561974 [GRCh38]
Chr8:17419483 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1103C>T (p.Ala368Val) single nucleotide variant not specified [RCV004114325] Chr8:17554607 [GRCh38]
Chr8:17412116 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1811G>C (p.Arg604Thr) single nucleotide variant not specified [RCV004145595] Chr8:17564980 [GRCh38]
Chr8:17422489 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.952C>G (p.Leu318Val) single nucleotide variant not specified [RCV004234793] Chr8:17551883 [GRCh38]
Chr8:17409392 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.731A>T (p.Tyr244Phe) single nucleotide variant not specified [RCV004228523] Chr8:17550333 [GRCh38]
Chr8:17407842 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.764C>T (p.Thr255Met) single nucleotide variant not specified [RCV004201357] Chr8:17550366 [GRCh38]
Chr8:17407875 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1429C>T (p.Arg477Trp) single nucleotide variant not specified [RCV004198853] Chr8:17560458 [GRCh38]
Chr8:17417967 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1339C>A (p.Pro447Thr) single nucleotide variant not specified [RCV004153565] Chr8:17560368 [GRCh38]
Chr8:17417877 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.612T>G (p.Phe204Leu) single nucleotide variant not specified [RCV004132895] Chr8:17548757 [GRCh38]
Chr8:17406266 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1355T>A (p.Leu452Gln) single nucleotide variant not specified [RCV004166165] Chr8:17560384 [GRCh38]
Chr8:17417893 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1124A>T (p.Lys375Ile) single nucleotide variant not specified [RCV004150288] Chr8:17554628 [GRCh38]
Chr8:17412137 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.-22-4454A>G single nucleotide variant not specified [RCV004085463] Chr8:17538864 [GRCh38]
Chr8:17396373 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.-22-4477G>A single nucleotide variant not specified [RCV004105219] Chr8:17538841 [GRCh38]
Chr8:17396350 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1334G>A (p.Cys445Tyr) single nucleotide variant not specified [RCV004103877] Chr8:17560363 [GRCh38]
Chr8:17417872 [GRCh37]
Chr8:8p22		 likely benign
NM_001370338.1(SLC7A2):c.971C>T (p.Pro324Leu) single nucleotide variant not specified [RCV004156621] Chr8:17551902 [GRCh38]
Chr8:17409411 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.368A>G (p.Tyr123Cys) single nucleotide variant not specified [RCV004089859] Chr8:17543707 [GRCh38]
Chr8:17401216 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.-22-4407C>A single nucleotide variant not specified [RCV004186486] Chr8:17538911 [GRCh38]
Chr8:17538911..17538912 [GRCh38]
Chr8:17396420 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.455C>T (p.Thr152Ile) single nucleotide variant not specified [RCV004142670] Chr8:17544529 [GRCh38]
Chr8:17402038 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1723T>A (p.Leu575Met) single nucleotide variant not specified [RCV004211269] Chr8:17563654 [GRCh38]
Chr8:17421163 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1847A>G (p.Asn616Ser) single nucleotide variant not specified [RCV004175168] Chr8:17565016 [GRCh38]
Chr8:17422525 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.800C>T (p.Ala267Val) single nucleotide variant not specified [RCV004149486] Chr8:17550402 [GRCh38]
Chr8:17407911 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1297A>G (p.Arg433Gly) single nucleotide variant not specified [RCV004091396] Chr8:17558396 [GRCh38]
Chr8:17415905 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1872C>A (p.Asn624Lys) single nucleotide variant not specified [RCV004274116] Chr8:17565041 [GRCh38]
Chr8:17422550 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1435C>T (p.Leu479Phe) single nucleotide variant not specified [RCV004253827] Chr8:17560464 [GRCh38]
Chr8:17417973 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.424C>G (p.Leu142Val) single nucleotide variant not specified [RCV004274593] Chr8:17544498 [GRCh38]
Chr8:17402007 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.508G>T (p.Val170Leu) single nucleotide variant not specified [RCV004319509] Chr8:17544582 [GRCh38]
Chr8:17402091 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1 copy number loss Microcephaly [RCV003327707] Chr8:12721809..30183737 [GRCh38]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1 copy number loss Neurodevelopmental disorder [RCV003327729] Chr8:449893..23854904 [GRCh38]
Chr8:8p23.3-21.2		 pathogenic
NM_001370338.1(SLC7A2):c.1882G>C (p.Ala628Pro) single nucleotide variant not specified [RCV004344434] Chr8:17565051 [GRCh38]
Chr8:17422560 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.394A>G (p.Arg132Gly) single nucleotide variant not specified [RCV004356188] Chr8:17544468 [GRCh38]
Chr8:17401977 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 copy number gain not provided [RCV003484713] Chr8:2201405..41723095 [GRCh37]
Chr8:8p23.2-11.21		 pathogenic
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3 copy number gain not provided [RCV003484722] Chr8:11945856..37902453 [GRCh37]
Chr8:8p23.1-11.23		 pathogenic
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3 copy number gain not provided [RCV003484725] Chr8:14240573..43824035 [GRCh37]
Chr8:8p22-11.1		 pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3 copy number gain not provided [RCV003484724] Chr8:12560782..38748763 [GRCh37]
Chr8:8p23.1-11.22		 pathogenic
GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1 copy number loss not provided [RCV003483018] Chr8:12490999..28150620 [GRCh37]
Chr8:8p23.1-21.1		 pathogenic
Single allele duplication not provided [RCV003448693] Chr8:12530550..43483193 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3 copy number gain not specified [RCV003986756] Chr8:158048..41600696 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
NM_001370338.1(SLC7A2):c.1924C>T (p.Pro642Ser) single nucleotide variant SLC7A2-related disorder [RCV003939460] Chr8:17565093 [GRCh38]
Chr8:17422602 [GRCh37]
Chr8:8p22		 likely benign
NM_001370338.1(SLC7A2):c.-22-4388_-22-4387insC insertion SLC7A2-related disorder [RCV003974476] Chr8:17538930..17538931 [GRCh38]
Chr8:17396439..17396440 [GRCh37]
Chr8:8p22		 benign
NM_001370338.1(SLC7A2):c.313G>C (p.Val105Leu) single nucleotide variant SLC7A2-related disorder [RCV003924407] Chr8:17543652 [GRCh38]
Chr8:17401161 [GRCh37]
Chr8:8p22		 benign
NM_001370338.1(SLC7A2):c.533-4A>G single nucleotide variant SLC7A2-related disorder [RCV003982214] Chr8:17548674 [GRCh38]
Chr8:17406183 [GRCh37]
Chr8:8p22		 benign
NM_001370338.1(SLC7A2):c.1581C>T (p.Leu527=) single nucleotide variant SLC7A2-related disorder [RCV003921904] Chr8:17562020 [GRCh38]
Chr8:17419529 [GRCh37]
Chr8:8p22		 benign
NM_001370338.1(SLC7A2):c.1591G>A (p.Ala531Thr) single nucleotide variant SLC7A2-related disorder [RCV003979357] Chr8:17562030 [GRCh38]
Chr8:17419539 [GRCh37]
Chr8:8p22		 benign
NM_001370338.1(SLC7A2):c.-19G>A single nucleotide variant SLC7A2-related disorder [RCV003931736] Chr8:17543321 [GRCh38]
Chr8:17400830 [GRCh37]
Chr8:8p22		 benign
NM_001370338.1(SLC7A2):c.-22-4386A>C single nucleotide variant SLC7A2-related disorder [RCV003979486] Chr8:17538932 [GRCh38]
Chr8:17396441 [GRCh37]
Chr8:8p22		 benign
NM_001370338.1(SLC7A2):c.-22-4412G>C single nucleotide variant SLC7A2-related disorder [RCV003974546] Chr8:17538906 [GRCh38]
Chr8:17396415 [GRCh37]
Chr8:8p22		 benign
NM_001370338.1(SLC7A2):c.-22-4447G>A single nucleotide variant SLC7A2-related disorder [RCV003974662] Chr8:17538871 [GRCh38]
Chr8:17396380 [GRCh37]
Chr8:8p22		 benign
NM_001370338.1(SLC7A2):c.1127G>C (p.Cys376Ser) single nucleotide variant SLC7A2-related disorder [RCV003982395] Chr8:17554631 [GRCh38]
Chr8:17412140 [GRCh37]
Chr8:8p22		 benign
NM_001370338.1(SLC7A2):c.1366C>G (p.Pro456Ala) single nucleotide variant not specified [RCV004456878] Chr8:17560395 [GRCh38]
Chr8:17417904 [GRCh37]
Chr8:8p22		 likely benign
NM_001370338.1(SLC7A2):c.109A>G (p.Met37Val) single nucleotide variant not specified [RCV004456879] Chr8:17543448 [GRCh38]
Chr8:17400957 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.305A>G (p.Tyr102Cys) single nucleotide variant not specified [RCV004456882] Chr8:17543644 [GRCh38]
Chr8:17401153 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.205G>A (p.Val69Met) single nucleotide variant not specified [RCV004456880] Chr8:17543544 [GRCh38]
Chr8:17401053 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.-9G>C single nucleotide variant not specified [RCV004456875] Chr8:17543331 [GRCh38]
Chr8:17400840 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.232G>T (p.Ala78Ser) single nucleotide variant not specified [RCV004456881] Chr8:17543571 [GRCh38]
Chr8:17401080 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.680A>G (p.Asn227Ser) single nucleotide variant not specified [RCV004456884] Chr8:17548825 [GRCh38]
Chr8:17406334 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1157C>T (p.Thr386Ile) single nucleotide variant not specified [RCV004456877] Chr8:17554661 [GRCh38]
Chr8:17412170 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.652T>C (p.Trp218Arg) single nucleotide variant not specified [RCV004456883] Chr8:17548797 [GRCh38]
Chr8:17406306 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.707C>T (p.Pro236Leu) single nucleotide variant not specified [RCV004456885] Chr8:17550309 [GRCh38]
Chr8:17407818 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1715A>G (p.Asn572Ser) single nucleotide variant not specified [RCV004675015] Chr8:17563646 [GRCh38]
Chr8:17421155 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1279G>A (p.Ala427Thr) single nucleotide variant not specified [RCV004675016] Chr8:17558378 [GRCh38]
Chr8:17415887 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.479G>T (p.Gly160Val) single nucleotide variant not specified [RCV004675017] Chr8:17544553 [GRCh38]
Chr8:17402062 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.13A>G (p.Arg5Gly) single nucleotide variant not specified [RCV004675018] Chr8:17543352 [GRCh38]
Chr8:17400861 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.322G>A (p.Gly108Arg) single nucleotide variant not specified [RCV004675019] Chr8:17543661 [GRCh38]
Chr8:17401170 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.-14C>T single nucleotide variant not specified [RCV004862381] Chr8:17543326 [GRCh38]
Chr8:17400835 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1091T>C (p.Ile364Thr) single nucleotide variant not specified [RCV004862382] Chr8:17554595 [GRCh38]
Chr8:17412104 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1592C>T (p.Ala531Val) single nucleotide variant not specified [RCV004862383] Chr8:17562031 [GRCh38]
Chr8:17419540 [GRCh37]
Chr8:8p22		 likely benign
NM_001370338.1(SLC7A2):c.1085G>A (p.Arg362His) single nucleotide variant not specified [RCV004862384] Chr8:17554589 [GRCh38]
Chr8:17412098 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh37/hg19 8p23.3-21.2(chr8:158049-24812752)x1 copy number loss not provided [RCV004819357] Chr8:158049..24812752 [GRCh37]
Chr8:8p23.3-21.2		 pathogenic
NM_001370338.1(SLC7A2):c.1474T>G (p.Ser492Ala) single nucleotide variant not specified [RCV004872838] Chr8:17560503 [GRCh38]
Chr8:17418012 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.718G>A (p.Gly240Arg) single nucleotide variant not specified [RCV004872839] Chr8:17550320 [GRCh38]
Chr8:17407829 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.535C>G (p.Leu179Val) single nucleotide variant not specified [RCV004872840] Chr8:17548680 [GRCh38]
Chr8:17406189 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.194G>A (p.Gly65Asp) single nucleotide variant not specified [RCV004872842] Chr8:17543533 [GRCh38]
Chr8:17401042 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.-22-4463G>T single nucleotide variant not specified [RCV004872844] Chr8:17538855 [GRCh38]
Chr8:17396364 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1105G>A (p.Glu369Lys) single nucleotide variant not specified [RCV004872841] Chr8:17554609 [GRCh38]
Chr8:17412118 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.-22-4415T>G single nucleotide variant not specified [RCV004872843] Chr8:17538903 [GRCh38]
Chr8:17396412 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1927A>G (p.Arg643Gly) single nucleotide variant not specified [RCV005279710] Chr8:17565096 [GRCh38]
Chr8:17422605 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.94C>T (p.Arg32Cys) single nucleotide variant not specified [RCV005279712] Chr8:17543433 [GRCh38]
Chr8:17400942 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.166G>A (p.Ala56Thr) single nucleotide variant not specified [RCV005279711] Chr8:17543505 [GRCh38]
Chr8:17401014 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1237A>G (p.Met413Val) single nucleotide variant not specified [RCV005279713] Chr8:17558336 [GRCh38]
Chr8:17415845 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1397T>A (p.Val466Asp) single nucleotide variant not specified [RCV005279714] Chr8:17560426 [GRCh38]
Chr8:17417935 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.136A>G (p.Ser46Gly) single nucleotide variant not specified [RCV005279715] Chr8:17543475 [GRCh38]
Chr8:17400984 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.-22-4487A>G single nucleotide variant not specified [RCV005279716] Chr8:17538831 [GRCh38]
Chr8:17396340 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.958G>A (p.Asp320Asn) single nucleotide variant not specified [RCV005279717] Chr8:17551889 [GRCh38]
Chr8:17409398 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.83C>T (p.Thr28Ile) single nucleotide variant not specified [RCV005279718] Chr8:17543422 [GRCh38]
Chr8:17400931 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1247T>C (p.Ile416Thr) single nucleotide variant not specified [RCV005279719] Chr8:17558346 [GRCh38]
Chr8:17415855 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.-22-4406A>G single nucleotide variant not specified [RCV005279720] Chr8:17538912 [GRCh38]
Chr8:17396421 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1370G>A (p.Arg457Lys) single nucleotide variant not specified [RCV005279721] Chr8:17560399 [GRCh38]
Chr8:17417908 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001370338.1(SLC7A2):c.1142A>C (p.Asn381Thr) single nucleotide variant not specified [RCV005279722] Chr8:17554646 [GRCh38]
Chr8:17412155 [GRCh37]
Chr8:8p22		 uncertain significance
Single allele deletion Cationic Amino Acid Transporter 2 Deficiency [RCV005430893] Chr8:17418998..17544143 [GRCh38]
Chr8:8p22		 uncertain significance
GRCh37/hg19 8p23.3-21.2(chr8:158048-25520248)x1 copy number loss not provided [RCV005429146] Chr8:158048..25520248 [GRCh37]
Chr8:8p23.3-21.2		 not provided
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:7299
Count of miRNA genes:971
Interacting mature miRNAs:1153
Transcripts:ENST00000004531, ENST00000398090, ENST00000470360, ENST00000494857, ENST00000522656
Prediction methods:Microtar, Miranda, Rnahybrid
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
597121943GWAS1218017_Hcleft lip QTL GWAS1218017 (human)0.000006cleft lip81751377817513779Human
628833661GWAS2741890_Hglutamine measurement QTL GWAS2741890 (human)3e-11blood L-glutamine amount (VT:0010972)blood amino acid measurement (CMO:0003730)81751518817515189Human
597131153GWAS1227227_Hmemory performance, sex interaction measurement QTL GWAS1227227 (human)0.000001learning/memory/conditioning trait (VT:0002063)81752565817525659Human
597295260GWAS1391334_HL-arginine measurement QTL GWAS1391334 (human)3e-20L-arginine measurement81756195217561953Human
597141404GWAS1237478_Harginine measurement QTL GWAS1237478 (human)1e-12arginine measurement81756195217561953Human
597041287GWAS1137361_Hornithine measurement, amino acid measurement QTL GWAS1137361 (human)5e-14ornithine measurement, amino acid measurement81756195217561953Human
597134979GWAS1231053_Hdiastolic blood pressure QTL GWAS1231053 (human)9e-12arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)81756195217561953Human
628823406GWAS2731635_HL-arginine measurement QTL GWAS2731635 (human)3e-20blood L-arginine amount (VT:0010975)blood arginine level (CMO:0003731)81756195217561953Human
597282689GWAS1378763_Hglutamine measurement QTL GWAS1378763 (human)4e-15glutamine measurement81751518817515189Human
597289089GWAS1385163_Halanine measurement QTL GWAS1385163 (human)8e-14alanine measurement81756723917567240Human
597131148GWAS1227222_Hmemory performance, sex interaction measurement QTL GWAS1227222 (human)0.0000001learning/memory/conditioning trait (VT:0002063)81751009217510093Human
628544875GWAS2453104_Halanine measurement QTL GWAS2453104 (human)8e-14blood L-alanine amount (VT:0010967)blood amino acid measurement (CMO:0003730)81756723917567240Human
1298482BP2_HBlood pressure QTL 2 (human)1.8Blood pressurediastolic8695325632953256Human
407353702GWAS1002678_Hglutamine measurement QTL GWAS1002678 (human)1e-20glutamine measurement81756195217561953Human
597600701GWAS1657561_Hleucine measurement QTL GWAS1657561 (human)0.000005blood L-leucine amount (VT:0010978)blood amino acid measurement (CMO:0003730)81751954817519549Human
628417873GWAS2326102_Hamino acid measurement QTL GWAS2326102 (human)0.000001blood amino acid amount (VT:0005311)81756520817565209Human
407075685GWAS724661_Hlysine measurement QTL GWAS724661 (human)2e-14lysine measurement81752171217521713Human
406951015GWAS599991_HFEV change measurement, trait in response to zileuton QTL GWAS599991 (human)0.0000003FEV change measurement, trait in response to zileuton81753484817534849Human
597177022GWAS1273096_Hglutamine measurement QTL GWAS1273096 (human)3e-15glutamine measurement81756195217561953Human
628417874GWAS2326103_Hamino acid measurement QTL GWAS2326103 (human)0.000003blood amino acid amount (VT:0005311)81756520817565209Human
597041342GWAS1137416_HL-arginine measurement, amino acid measurement QTL GWAS1137416 (human)0.0000002L-arginine measurement, amino acid measurement81756520817565209Human
597041340GWAS1137414_HL-arginine measurement, amino acid measurement QTL GWAS1137414 (human)3e-08L-arginine measurement, amino acid measurement81756520817565209Human
597041341GWAS1137415_HL-arginine measurement, amino acid measurement QTL GWAS1137415 (human)0.0000001L-arginine measurement, amino acid measurement81756520817565209Human
597041339GWAS1137413_HL-arginine measurement, amino acid measurement QTL GWAS1137413 (human)4e-09L-arginine measurement, amino acid measurement81756520817565209Human
407357813GWAS1006789_Hdiastolic blood pressure QTL GWAS1006789 (human)1e-09diastolic blood pressure81756195217561953Human
407380346GWAS1029322_Harginine measurement QTL GWAS1029322 (human)1e-12arginine measurement81756195217561953Human
616357771GWAS1842486_Hgut microbiome measurement, breastfeeding duration QTL GWAS1842486 (human)4e-08gut microbiome measurement, breastfeeding duration81749822417498225Human
597600681GWAS1657541_Hlactate measurement QTL GWAS1657541 (human)0.0000008blood lactate amount (VT:0010616)blood lactate level (CMO:0001303)81751692717516928Human
628838988GWAS2747217_Hamino acid measurement QTL GWAS2747217 (human)0.000009blood amino acid amount (VT:0005311)81756520817565209Human
597129390GWAS1225464_Hmemory performance, sex interaction measurement QTL GWAS1225464 (human)0.0000005learning/memory/conditioning trait (VT:0002063)81751009217510093Human
598065311GWAS1784610_Hobsolete_lysine measurement QTL GWAS1784610 (human)7e-20obsolete_lysine measurement81751845017518451Human
597201063GWAS1297137_Hbody height QTL GWAS1297137 (human)0.000005body height81753666017536661Human
598049248GWAS1768547_Hobsolete_lysine measurement QTL GWAS1768547 (human)2e-14obsolete_lysine measurement81752171217521713Human
628418867GWAS2327096_HL-arginine measurement, amino acid measurement QTL GWAS2327096 (human)3e-16blood amino acid amount (VT:0005311)blood arginine level (CMO:0003731)81756195217561953Human
628831795GWAS2740024_Hdiastolic blood pressure QTL GWAS2740024 (human)2e-08arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)81756723917567240Human
597071069GWAS1167143_Hwaist-hip ratio QTL GWAS1167143 (human)0.000007body size trait (VT:0100005)waist to hip ratio (WHR) (CMO:0000020)81749671617496717Human
407254283GWAS903259_Hglutamine measurement QTL GWAS903259 (human)3e-15glutamine measurement81756195217561953Human
407415559GWAS1064535_Hdiastolic blood pressure QTL GWAS1064535 (human)9e-12diastolic blood pressure81756195217561953Human
407057943GWAS706919_Hglutamine measurement QTL GWAS706919 (human)4e-15glutamine measurement81751518817515189Human
406905368GWAS554344_Hwaist-hip ratio QTL GWAS554344 (human)0.000007waist-hip ratio81749671617496717Human
407272990GWAS921966_Hbody height QTL GWAS921966 (human)2e-12body height81754031317540314Human
407272989GWAS921965_Hbody height QTL GWAS921965 (human)4e-08body height81752934517529346Human
628707874GWAS2616103_Hlevel of fibrinogen-like protein 1 in blood QTL GWAS2616103 (human)3e-21level of fibrinogen-like protein 1 in blood81753891117538912Human
626449933GWAS2263866_HAlzheimer disease, dementia, family history of Alzheimer’s disease QTL GWAS2263866 (human)0.000002Alzheimer disease, dementia, family history of Alzheimer’s disease81754720017547201Human
628508950GWAS2417179_Hdiastolic blood pressure QTL GWAS2417179 (human)1e-09arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)81756195217561953Human
628769819GWAS2678048_Hcleft lip QTL GWAS2678048 (human)0.000006cleft lip81751377817513779Human
628641306GWAS2549535_Hgut microbiome measurement, number of siblings QTL GWAS2549535 (human)0.0000002gut microbiome measurement, number of siblings81753872217538723Human
596951543GWAS1071062_HL-arginine measurement, amino acid measurement QTL GWAS1071062 (human)0.0000001L-arginine measurement, amino acid measurement81756520817565209Human
597041394GWAS1137468_Hamino acid measurement QTL GWAS1137468 (human)0.000003amino acid measurement81756520817565209Human
407070247GWAS719223_Halanine measurement QTL GWAS719223 (human)8e-14alanine measurement81756723917567240Human
628707869GWAS2616098_Hlevel of fibrinogen-like protein 1 in blood QTL GWAS2616098 (human)2e-13level of fibrinogen-like protein 1 in blood81756932317569324Human
597460216GWAS1556290_Hdiastolic blood pressure QTL GWAS1556290 (human)4e-09diastolic blood pressure81756967717569678Human
597041393GWAS1137467_Hamino acid measurement QTL GWAS1137467 (human)0.000001amino acid measurement81756520817565209Human
598099402GWAS1816795_Hlysine in blood amount QTL GWAS1816795 (human)2e-14lysine in blood amount81752171217521713Human
628641812GWAS2550041_Hgut microbiome measurement, allergen exposure measurement QTL GWAS2550041 (human)6e-08gut microbiome measurement, allergen exposure measurement81753872217538723Human
407011374GWAS660350_HL-arginine measurement, amino acid measurement QTL GWAS660350 (human)3e-08L-arginine measurement, amino acid measurement81756520817565209Human
597244917GWAS1340991_Hneonatal abstinence syndrome QTL GWAS1340991 (human)0.000008neonatal abstinence syndrome81756602817566029Human
407011372GWAS660348_HL-arginine measurement, amino acid measurement QTL GWAS660348 (human)4e-09L-arginine measurement, amino acid measurement81756520817565209Human
597041382GWAS1137456_HL-arginine measurement, amino acid measurement QTL GWAS1137456 (human)0.0000004L-arginine measurement, amino acid measurement81756520817565209Human
407351861GWAS1000837_HL-arginine measurement QTL GWAS1000837 (human)3e-20L-arginine measurement81756195217561953Human
407011376GWAS660352_HL-arginine measurement, amino acid measurement QTL GWAS660352 (human)0.0000002L-arginine measurement, amino acid measurement81756520817565209Human
407011377GWAS660353_HL-arginine measurement, amino acid measurement QTL GWAS660353 (human)0.0000004L-arginine measurement, amino acid measurement81756520817565209Human
628419072GWAS2327301_HL-arginine measurement, amino acid measurement QTL GWAS2327301 (human)0.0000002blood amino acid amount (VT:0005311)blood arginine level (CMO:0003731)81756520817565209Human
597826263GWAS1693654_Halanine measurement QTL GWAS1693654 (human)2e-14alanine measurement81756195217561953Human
628419073GWAS2327302_HL-arginine measurement, amino acid measurement QTL GWAS2327302 (human)0.0000004blood amino acid amount (VT:0005311)blood arginine level (CMO:0003731)81756520817565209Human
598061267GWAS1780566_Hbody height QTL GWAS1780566 (human)2e-12body height81754031317540314Human
598061266GWAS1780565_Hbody height QTL GWAS1780565 (human)4e-08body height81752934517529346Human
407346493GWAS995469_Hdiastolic blood pressure QTL GWAS995469 (human)2e-08diastolic blood pressure81756723917567240Human
628762886GWAS2671115_Hglutamine measurement QTL GWAS2671115 (human)3e-15blood L-glutamine amount (VT:0010972)blood amino acid measurement (CMO:0003730)81756195217561953Human
596980757GWAS1100276_Hmemory performance QTL GWAS1100276 (human)0.000003memory performance81751009217510093Human
598058276GWAS1777575_Hbody height QTL GWAS1777575 (human)0.000005body height81753666017536661Human
628631036GWAS2539265_Hgut microbiome measurement, allergen exposure measurement QTL GWAS2539265 (human)3e-08gut microbiome measurement, allergen exposure measurement81753318017533181Human
597158163GWAS1254237_Halanine measurement QTL GWAS1254237 (human)5e-15alanine measurement81756195217561953Human
628519664GWAS2427893_Hdiastolic blood pressure QTL GWAS2427893 (human)4e-09arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)81756967717569678Human
407340751GWAS989727_Hglutamine measurement QTL GWAS989727 (human)4e-11glutamine measurement81756367917563680Human
628419068GWAS2327297_HL-arginine measurement, amino acid measurement QTL GWAS2327297 (human)4e-09blood amino acid amount (VT:0005311)blood arginine level (CMO:0003731)81756520817565209Human
597162014GWAS1258088_Hamino acid measurement QTL GWAS1258088 (human)0.000009amino acid measurement81756520817565209Human
628419069GWAS2327298_HL-arginine measurement, amino acid measurement QTL GWAS2327298 (human)3e-08blood amino acid amount (VT:0005311)blood arginine level (CMO:0003731)81756520817565209Human
628419071GWAS2327300_HL-arginine measurement, amino acid measurement QTL GWAS2327300 (human)0.0000001blood amino acid amount (VT:0005311)blood arginine level (CMO:0003731)81756520817565209Human
407011535GWAS660511_Hamino acid measurement QTL GWAS660511 (human)0.000001amino acid measurement81756520817565209Human
597161497GWAS1257571_Hglutamine measurement QTL GWAS1257571 (human)4e-11glutamine measurement81756367917563680Human
597041924GWAS1137998_HL-arginine measurement, amino acid measurement QTL GWAS1137998 (human)3e-16L-arginine measurement, amino acid measurement81756195217561953Human
407011536GWAS660512_Hamino acid measurement QTL GWAS660512 (human)0.000003amino acid measurement81756520817565209Human
596986368GWAS1105887_Hmemory performance, sex interaction measurement QTL GWAS1105887 (human)0.0000005memory performance, sex interaction measurement81751009217510093Human
597318412GWAS1414486_Hlysine measurement QTL GWAS1414486 (human)2e-14lysine measurement81752171217521713Human
616359211GWAS1843926_Hgut microbiome measurement, number of siblings QTL GWAS1843926 (human)0.0000002gut microbiome measurement, number of siblings81753872217538723Human
406965979GWAS614955_Homega-6 polyunsaturated fatty acid measurement QTL GWAS614955 (human)0.0000009fatty acid amount (VT:0010046)81751326717513268Human
628947686GWAS2855915_Hserum albumin amount QTL GWAS2855915 (human)6e-09serum albumin amount81751478817514789Human
617113427GWAS2130926_Hlevel of fibrinogen-like protein 1 in blood QTL GWAS2130926 (human)2e-13level of fibrinogen-like protein 1 in blood81756932317569324Human
597094154GWAS1190228_HFEV change measurement, trait in response to zileuton QTL GWAS1190228 (human)0.0000003FEV change measurement, trait in response to zileutonrespiratory system measurement (CMO:0000094)81753484817534849Human
617113431GWAS2130930_Hlevel of fibrinogen-like protein 1 in blood QTL GWAS2130930 (human)3e-21level of fibrinogen-like protein 1 in blood81753891117538912Human
406935262GWAS584238_HL-arginine measurement, amino acid measurement QTL GWAS584238 (human)0.0000001L-arginine measurement, amino acid measurement81756520817565209Human
596986676GWAS1106195_Hmemory performance, sex interaction measurement QTL GWAS1106195 (human)0.000003memory performance, sex interaction measurement81752565817525659Human
628846547GWAS2754776_Hlysine in blood amount QTL GWAS2754776 (human)2e-14lysine in blood amount81752171217521713Human
407268588GWAS917564_Hlysine measurement QTL GWAS917564 (human)7e-20lysine measurement81751845017518451Human
628604893GWAS2513122_Halanine measurement QTL GWAS2513122 (human)5e-15blood L-alanine amount (VT:0010967)blood amino acid measurement (CMO:0003730)81756195217561953Human
628732884GWAS2641113_Hneonatal abstinence syndrome QTL GWAS2641113 (human)0.000008neonatal abstinence syndrome81756602817566029Human
407268584GWAS917560_Hglutamine measurement QTL GWAS917560 (human)3e-11glutamine measurement81751518817515189Human
628509124GWAS2417353_Hdiastolic blood pressure QTL GWAS2417353 (human)1e-10arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)81756195217561953Human
597826321GWAS1693712_Hglutamine measurement QTL GWAS1693712 (human)1e-22glutamine measurement81756195217561953Human
597600554GWAS1657414_Hglycine measurement QTL GWAS1657414 (human)0.000003blood glycine amount (VT:0010965)blood amino acid measurement (CMO:0003730)81751954817519549Human
628542403GWAS2450632_Hglutamine measurement QTL GWAS2450632 (human)4e-15blood L-glutamine amount (VT:0010972)blood amino acid measurement (CMO:0003730)81751518817515189Human
1558703SCL6_HSerum cholesterol level QTL 1 (human)1.2Lipid levelHDL cholesterol81246863538468635Human
407246842GWAS895818_Hneonatal abstinence syndrome QTL GWAS895818 (human)0.000008neonatal abstinence syndrome81756602817566029Human
628650949GWAS2559178_Hglutamine measurement QTL GWAS2559178 (human)1e-22blood L-glutamine amount (VT:0010972)blood amino acid measurement (CMO:0003730)81756195217561953Human
628867001GWAS2775230_Harginine measurement QTL GWAS2775230 (human)1e-12arginine measurement81756195217561953Human
597129555GWAS1225629_Hmemory performance, sex interaction measurement QTL GWAS1225629 (human)0.000003learning/memory/conditioning trait (VT:0002063)81752565817525659Human
628762047GWAS2670276_Halanine measurement QTL GWAS2670276 (human)2e-12blood L-alanine amount (VT:0010967)blood amino acid measurement (CMO:0003730)81756195217561953Human
626453649GWAS2267582_Hserum albumin amount QTL GWAS2267582 (human)6e-09serum albumin amount81751478817514789Human
407016587GWAS665563_Hbody height QTL GWAS665563 (human)0.000005body height81753666017536661Human
596987231GWAS1106750_Hmemory performance, sex interaction measurement QTL GWAS1106750 (human)0.0000001memory performance, sex interaction measurement81751009217510093Human
407255948GWAS904924_Halanine measurement QTL GWAS904924 (human)2e-12alanine measurement81756195217561953Human
628602812GWAS2511041_Hglutamine measurement QTL GWAS2511041 (human)1e-20blood L-glutamine amount (VT:0010972)blood amino acid measurement (CMO:0003730)81756195217561953Human
597298516GWAS1394590_Hglutamine measurement QTL GWAS1394590 (human)3e-11glutamine measurement81751518817515189Human
407358344GWAS1007320_Hdiastolic blood pressure QTL GWAS1007320 (human)1e-10diastolic blood pressure81756195217561953Human
407237770GWAS886746_Hamino acid measurement QTL GWAS886746 (human)0.000009amino acid measurement81756520817565209Human
598096757GWAS1814150_Hlysine in blood amount QTL GWAS1814150 (human)7e-20lysine in blood amount81751845017518451Human
597299279GWAS1395353_Hlysine measurement QTL GWAS1395353 (human)7e-20lysine measurement81751845017518451Human
596986947GWAS1106466_Hmemory performance, sex interaction measurement QTL GWAS1106466 (human)0.000001memory performance, sex interaction measurement81752565817525659Human
407098779GWAS747755_HL-arginine measurement, amino acid measurement QTL GWAS747755 (human)3e-16L-arginine measurement, amino acid measurement81756195217561953Human
628460461GWAS2368690_Hdiastolic blood pressure QTL GWAS2368690 (human)5e-10arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)81756967717569678Human
628603053GWAS2511282_Hglutamine measurement QTL GWAS2511282 (human)4e-11blood L-glutamine amount (VT:0010972)blood amino acid measurement (CMO:0003730)81756367917563680Human
597339201GWAS1435275_Hdiastolic blood pressure QTL GWAS1435275 (human)1e-09diastolic blood pressure81756195217561953Human
597601603GWAS1658463_Hacetate measurement QTL GWAS1658463 (human)0.0000002acetate measurement81751692717516928Human
628643239GWAS2551468_Hgut microbiome measurement, breastfeeding duration QTL GWAS2551468 (human)4e-08lactation duration (VT:1000653)81749822417498225Human
407098780GWAS747756_Hornithine measurement, amino acid measurement QTL GWAS747756 (human)5e-14ornithine measurement, amino acid measurement81756195217561953Human
597215098GWAS1311172_Hbody height QTL GWAS1311172 (human)4e-08body height81752934517529346Human
597161333GWAS1257407_Hglutamine measurement QTL GWAS1257407 (human)1e-20glutamine measurement81756195217561953Human
597179514GWAS1275588_Halanine measurement QTL GWAS1275588 (human)2e-12alanine measurement81756195217561953Human
597215099GWAS1311173_Hbody height QTL GWAS1311173 (human)2e-12body height81754031317540314Human
616538203GWAS1934786_Hlevel of fibrinogen-like protein 1 in blood QTL GWAS1934786 (human)3e-21level of fibrinogen-like protein 1 in blood81753891117538912Human
597193087GWAS1289161_Hmemory performance QTL GWAS1289161 (human)0.000003learning/memory/conditioning trait (VT:0002063)81751009217510093Human
407358127GWAS1007103_Halanine measurement QTL GWAS1007103 (human)5e-15alanine measurement81756195217561953Human
628418973GWAS2327202_Hornithine measurement, amino acid measurement QTL GWAS2327202 (human)5e-14blood amino acid amount (VT:0005311)blood amino acid measurement (CMO:0003730)81756195217561953Human
616538198GWAS1934781_Hlevel of fibrinogen-like protein 1 in blood QTL GWAS1934781 (human)2e-13level of fibrinogen-like protein 1 in blood81756932317569324Human
597329520GWAS1425594_Hdiastolic blood pressure QTL GWAS1425594 (human)1e-10diastolic blood pressure81756195217561953Human
407013545GWAS662521_Hdiastolic blood pressure QTL GWAS662521 (human)5e-10diastolic blood pressure81756967717569678Human
628833175GWAS2741404_Hlysine in blood amount QTL GWAS2741404 (human)7e-20lysine in blood amount81751845017518451Human
616358224GWAS1842939_Hgut microbiome measurement, allergen exposure measurement QTL GWAS1842939 (human)3e-08gut microbiome measurement, allergen exposure measurement81753318017533181Human
407198632GWAS847608_Hcleft lip QTL GWAS847608 (human)0.000006cleft lip81751377817513779Human
628946066GWAS2854295_Hbody height QTL GWAS2854295 (human)0.000005body height81753666017536661Human
628650646GWAS2558875_Halanine measurement QTL GWAS2558875 (human)2e-14blood L-alanine amount (VT:0010967)blood amino acid measurement (CMO:0003730)81756195217561953Human
597600878GWAS1657738_Hvaline measurement QTL GWAS1657738 (human)0.000002blood L-alanine amount (VT:0010967)blood amino acid measurement (CMO:0003730)81751954817519549Human
616358986GWAS1843701_Hgut microbiome measurement, allergen exposure measurement QTL GWAS1843701 (human)6e-08gut microbiome measurement, allergen exposure measurement81753872217538723Human
597283681GWAS1379755_Hdiastolic blood pressure QTL GWAS1379755 (human)2e-08diastolic blood pressure81756723917567240Human
597110889GWAS1206963_Hdiastolic blood pressure QTL GWAS1206963 (human)5e-10diastolic blood pressure81756967717569678Human

Markers in Region
G31147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,400,925 - 17,401,017UniSTSGRCh37
Build 36817,445,304 - 17,445,396RGDNCBI36
Celera816,366,682 - 16,366,774RGD
Cytogenetic Map8p22UniSTS
HuRef815,945,571 - 15,945,663UniSTS
SHGC-36559  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,427,863 - 17,427,962UniSTSGRCh37
Build 36817,472,138 - 17,472,237RGDNCBI36
Celera816,393,516 - 16,393,615RGD
Cytogenetic Map8p22UniSTS
HuRef815,972,435 - 15,972,534UniSTS
Stanford-G3 RH Map8797.0UniSTS
NCBI RH Map8199.6UniSTS
GeneMap99-G3 RH Map8884.0UniSTS
RH79723  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,407,834 - 17,408,037UniSTSGRCh37
Build 36817,452,212 - 17,452,415RGDNCBI36
Celera816,373,590 - 16,373,793RGD
Cytogenetic Map8p22UniSTS
HuRef815,952,492 - 15,952,695UniSTS
GeneMap99-GB4 RH Map863.84UniSTS
RH80694  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,427,824 - 17,428,026UniSTSGRCh37
Build 36817,472,099 - 17,472,301RGDNCBI36
Celera816,393,477 - 16,393,679RGD
Cytogenetic Map8p22UniSTS
HuRef815,972,396 - 15,972,598UniSTS
GeneMap99-GB4 RH Map863.62UniSTS
RH103268  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,427,754 - 17,427,884UniSTSGRCh37
Build 36817,472,029 - 17,472,159RGDNCBI36
Celera816,393,407 - 16,393,537RGD
Cytogenetic Map8p22UniSTS
HuRef815,972,326 - 15,972,456UniSTS
GeneMap99-GB4 RH Map858.9UniSTS
RH124017  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,378,764 - 17,379,034UniSTSGRCh37
Build 36817,423,143 - 17,423,413RGDNCBI36
Celera816,344,517 - 16,344,787RGD
Cytogenetic Map8p22UniSTS
HuRef815,923,314 - 15,923,584UniSTS
fb93h06.x1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375146,881,940 - 146,882,063UniSTSGRCh37
GRCh375146,881,946 - 146,882,063UniSTSGRCh37
Build 365146,862,133 - 146,862,256RGDNCBI36
Celera5142,963,957 - 142,964,074UniSTS
Celera5142,963,951 - 142,964,074RGD
HuRef815,949,482 - 15,949,987UniSTS
HuRef815,949,482 - 15,949,953UniSTS
HuRef815,949,482 - 15,949,969UniSTS
HuRef1168,728,039 - 68,728,516UniSTS
HuRef1168,728,039 - 68,728,548UniSTS
PMC310830P24  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,396,286 - 17,396,406UniSTSGRCh37
Build 36817,440,665 - 17,440,785RGDNCBI36
Celera816,362,043 - 16,362,163RGD
Cytogenetic Map8p22UniSTS
HuRef815,940,935 - 15,941,055UniSTS
RH41931  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,427,677 - 17,427,954UniSTSGRCh37
Build 36817,471,952 - 17,472,229RGDNCBI36
Celera816,393,330 - 16,393,607RGD
Cytogenetic Map8p22UniSTS
HuRef815,972,249 - 15,972,526UniSTS
GeneMap99-GB4 RH Map865.2UniSTS
STS-AA007415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,426,220 - 17,426,466UniSTSGRCh37
Build 36817,470,495 - 17,470,741RGDNCBI36
Celera816,391,873 - 16,392,119RGD
Cytogenetic Map8p22UniSTS
HuRef815,970,792 - 15,971,038UniSTS
GeneMap99-GB4 RH Map863.55UniSTS


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 2404 2788 2236 4956 1723 2339 6 624 1639 465 2262 6983 6178 47 3724 1 850 1740 1604 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_030355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001008539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA724796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB020863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI275549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI458117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP006248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU077312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB216457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D29990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D78212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB237902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U76368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U76369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000004531   ⟹   ENSP00000004531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl817,538,777 - 17,570,561 (+)Ensembl
Ensembl Acc Id: ENST00000398090   ⟹   ENSP00000381164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl817,538,777 - 17,570,561 (+)Ensembl
Ensembl Acc Id: ENST00000470360   ⟹   ENSP00000419873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl817,497,215 - 17,570,573 (+)Ensembl
Ensembl Acc Id: ENST00000494857   ⟹   ENSP00000419140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl817,497,088 - 17,570,566 (+)Ensembl
Ensembl Acc Id: ENST00000522656   ⟹   ENSP00000430464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl817,497,091 - 17,565,274 (+)Ensembl
Ensembl Acc Id: ENST00000640220   ⟹   ENSP00000492016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl817,538,870 - 17,565,162 (+)Ensembl
Ensembl Acc Id: ENST00000908539   ⟹   ENSP00000578598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl817,497,085 - 17,570,516 (+)Ensembl
Ensembl Acc Id: ENST00000908540   ⟹   ENSP00000578599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl817,496,975 - 17,568,961 (+)Ensembl
Ensembl Acc Id: ENST00000908541   ⟹   ENSP00000578600
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl817,497,088 - 17,568,800 (+)Ensembl
Ensembl Acc Id: ENST00000908542   ⟹   ENSP00000578601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl817,497,088 - 17,566,460 (+)Ensembl
Ensembl Acc Id: ENST00000908543   ⟹   ENSP00000578602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl817,517,444 - 17,568,800 (+)Ensembl
Ensembl Acc Id: ENST00000908544   ⟹   ENSP00000578603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl817,537,556 - 17,566,405 (+)Ensembl
Ensembl Acc Id: ENST00000915126   ⟹   ENSP00000585185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl817,497,088 - 17,570,516 (+)Ensembl
Ensembl Acc Id: ENST00000915127   ⟹   ENSP00000585186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl817,497,111 - 17,570,516 (+)Ensembl
Ensembl Acc Id: ENST00000915128   ⟹   ENSP00000585187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl817,497,118 - 17,570,511 (+)Ensembl
Ensembl Acc Id: ENST00000965690   ⟹   ENSP00000635749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl817,497,684 - 17,570,503 (+)Ensembl
Ensembl Acc Id: ENST00000965691   ⟹   ENSP00000635750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl817,497,111 - 17,566,684 (+)Ensembl
Ensembl Acc Id: ENST00000965692   ⟹   ENSP00000635751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl817,497,047 - 17,566,605 (+)Ensembl
RefSeq Acc Id: NM_001008539   ⟹   NP_001008539
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,497,088 - 17,570,566 (+)NCBI
GRCh37817,354,597 - 17,428,077 (+)ENTREZGENE
Build 36817,445,206 - 17,472,352 (+)NCBI Archive
HuRef815,899,173 - 15,972,649 (+)ENTREZGENE
CHM1_1817,556,088 - 17,629,545 (+)NCBI
T2T-CHM13v2.0817,764,342 - 17,837,697 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001164771   ⟹   NP_001158243
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,538,777 - 17,570,566 (+)NCBI
GRCh37817,354,597 - 17,428,077 (+)ENTREZGENE
HuRef815,899,173 - 15,972,649 (+)ENTREZGENE
CHM1_1817,597,767 - 17,629,545 (+)NCBI
T2T-CHM13v2.0817,806,013 - 17,837,697 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001370337   ⟹   NP_001357266
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,497,088 - 17,570,566 (+)NCBI
T2T-CHM13v2.0817,764,342 - 17,837,697 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001370338   ⟹   NP_001357267
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,497,088 - 17,570,566 (+)NCBI
T2T-CHM13v2.0817,764,342 - 17,837,697 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003046   ⟹   NP_003037
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,538,777 - 17,570,566 (+)NCBI
GRCh37817,354,597 - 17,428,077 (+)ENTREZGENE
Build 36817,440,665 - 17,472,352 (+)NCBI Archive
HuRef815,899,173 - 15,972,649 (+)ENTREZGENE
CHM1_1817,597,767 - 17,629,545 (+)NCBI
T2T-CHM13v2.0817,806,013 - 17,837,697 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005273611   ⟹   XP_005273668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,501,314 - 17,570,566 (+)NCBI
GRCh37817,354,597 - 17,428,077 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005273612   ⟹   XP_005273669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,497,088 - 17,570,566 (+)NCBI
GRCh37817,354,597 - 17,428,077 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013746   ⟹   XP_016869235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,494,318 - 17,570,566 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047422113   ⟹   XP_047278069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,494,069 - 17,570,566 (+)NCBI
RefSeq Acc Id: XM_047422114   ⟹   XP_047278070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,494,069 - 17,570,566 (+)NCBI
RefSeq Acc Id: XM_047422115   ⟹   XP_047278071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,497,088 - 17,570,566 (+)NCBI
RefSeq Acc Id: XM_047422116   ⟹   XP_047278072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,497,088 - 17,570,566 (+)NCBI
RefSeq Acc Id: XM_054361028   ⟹   XP_054217003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0817,764,342 - 17,837,697 (+)NCBI
RefSeq Acc Id: XM_054361029   ⟹   XP_054217004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0817,768,551 - 17,837,697 (+)NCBI
RefSeq Acc Id: XM_054361030   ⟹   XP_054217005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0817,761,599 - 17,837,697 (+)NCBI
RefSeq Acc Id: XM_054361031   ⟹   XP_054217006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0817,764,342 - 17,837,697 (+)NCBI
RefSeq Acc Id: XM_054361032   ⟹   XP_054217007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0817,764,342 - 17,837,697 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001008539 (Get FASTA)   NCBI Sequence Viewer  
  NP_001158243 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357266 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357267 (Get FASTA)   NCBI Sequence Viewer  
  NP_003037 (Get FASTA)   NCBI Sequence Viewer  
  XP_005273668 (Get FASTA)   NCBI Sequence Viewer  
  XP_005273669 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869235 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278069 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278070 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278071 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278072 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217003 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217004 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217005 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217006 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217007 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB62810 (Get FASTA)   NCBI Sequence Viewer  
  AAB62811 (Get FASTA)   NCBI Sequence Viewer  
  AAH69648 (Get FASTA)   NCBI Sequence Viewer  
  AAI04906 (Get FASTA)   NCBI Sequence Viewer  
  AAI13662 (Get FASTA)   NCBI Sequence Viewer  
  AAI43584 (Get FASTA)   NCBI Sequence Viewer  
  BAA06271 (Get FASTA)   NCBI Sequence Viewer  
  CAD89909 (Get FASTA)   NCBI Sequence Viewer  
  EAW63812 (Get FASTA)   NCBI Sequence Viewer  
  EAW63813 (Get FASTA)   NCBI Sequence Viewer  
  EAW63814 (Get FASTA)   NCBI Sequence Viewer  
  EAW63815 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000004531
  ENSP00000004531.10
  ENSP00000381164
  ENSP00000381164.3
  ENSP00000419140
  ENSP00000419140.2
  ENSP00000430464
  ENSP00000430464.1
  ENSP00000492016.2
  ENSP00000578598
  ENSP00000578599
  ENSP00000578600
  ENSP00000578601
GenBank Protein P52569 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001008539   ⟸   NM_001008539
- Peptide Label: isoform 2
- UniProtKB: Q6NSZ7 (UniProtKB/Swiss-Prot),   Q14CQ6 (UniProtKB/Swiss-Prot),   O15292 (UniProtKB/Swiss-Prot),   O15291 (UniProtKB/Swiss-Prot),   B7ZL54 (UniProtKB/Swiss-Prot),   Q86TC6 (UniProtKB/Swiss-Prot),   P52569 (UniProtKB/Swiss-Prot),   A0A1W2PR06 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001158243   ⟸   NM_001164771
- Peptide Label: isoform 3
- UniProtKB: A0A1W2PR06 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_003037   ⟸   NM_003046
- Peptide Label: isoform 1
- UniProtKB: A0A1W2PR06 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005273669   ⟸   XM_005273612
- Peptide Label: isoform X1
- UniProtKB: Q6NSZ7 (UniProtKB/Swiss-Prot),   Q14CQ6 (UniProtKB/Swiss-Prot),   O15292 (UniProtKB/Swiss-Prot),   O15291 (UniProtKB/Swiss-Prot),   B7ZL54 (UniProtKB/Swiss-Prot),   Q86TC6 (UniProtKB/Swiss-Prot),   P52569 (UniProtKB/Swiss-Prot),   A0A1W2PR06 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005273668   ⟸   XM_005273611
- Peptide Label: isoform X1
- UniProtKB: Q6NSZ7 (UniProtKB/Swiss-Prot),   Q14CQ6 (UniProtKB/Swiss-Prot),   O15292 (UniProtKB/Swiss-Prot),   O15291 (UniProtKB/Swiss-Prot),   B7ZL54 (UniProtKB/Swiss-Prot),   Q86TC6 (UniProtKB/Swiss-Prot),   P52569 (UniProtKB/Swiss-Prot),   A0A1W2PR06 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016869235   ⟸   XM_017013746
- Peptide Label: isoform X1
- UniProtKB: Q6NSZ7 (UniProtKB/Swiss-Prot),   Q14CQ6 (UniProtKB/Swiss-Prot),   O15292 (UniProtKB/Swiss-Prot),   O15291 (UniProtKB/Swiss-Prot),   B7ZL54 (UniProtKB/Swiss-Prot),   Q86TC6 (UniProtKB/Swiss-Prot),   P52569 (UniProtKB/Swiss-Prot),   A0A1W2PR06 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001357267   ⟸   NM_001370338
- Peptide Label: isoform 2
- UniProtKB: Q6NSZ7 (UniProtKB/Swiss-Prot),   Q14CQ6 (UniProtKB/Swiss-Prot),   P52569 (UniProtKB/Swiss-Prot),   O15292 (UniProtKB/Swiss-Prot),   O15291 (UniProtKB/Swiss-Prot),   B7ZL54 (UniProtKB/Swiss-Prot),   Q86TC6 (UniProtKB/Swiss-Prot),   A0A1W2PR06 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001357266   ⟸   NM_001370337
- Peptide Label: isoform 4
- UniProtKB: A0A9H4ATX5 (UniProtKB/TrEMBL),   A0A1W2PR06 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000381164   ⟸   ENST00000398090
Ensembl Acc Id: ENSP00000004531   ⟸   ENST00000004531
Ensembl Acc Id: ENSP00000419140   ⟸   ENST00000494857
Ensembl Acc Id: ENSP00000430464   ⟸   ENST00000522656
Ensembl Acc Id: ENSP00000492016   ⟸   ENST00000640220
Ensembl Acc Id: ENSP00000419873   ⟸   ENST00000470360
RefSeq Acc Id: XP_047278069   ⟸   XM_047422113
- Peptide Label: isoform X1
- UniProtKB: Q6NSZ7 (UniProtKB/Swiss-Prot),   Q14CQ6 (UniProtKB/Swiss-Prot),   P52569 (UniProtKB/Swiss-Prot),   O15292 (UniProtKB/Swiss-Prot),   O15291 (UniProtKB/Swiss-Prot),   B7ZL54 (UniProtKB/Swiss-Prot),   Q86TC6 (UniProtKB/Swiss-Prot),   A0A1W2PR06 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278070   ⟸   XM_047422114
- Peptide Label: isoform X1
- UniProtKB: Q6NSZ7 (UniProtKB/Swiss-Prot),   Q14CQ6 (UniProtKB/Swiss-Prot),   P52569 (UniProtKB/Swiss-Prot),   O15292 (UniProtKB/Swiss-Prot),   O15291 (UniProtKB/Swiss-Prot),   B7ZL54 (UniProtKB/Swiss-Prot),   Q86TC6 (UniProtKB/Swiss-Prot),   A0A1W2PR06 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278071   ⟸   XM_047422115
- Peptide Label: isoform X2
- UniProtKB: A0A9H4ATX5 (UniProtKB/TrEMBL),   A0A1W2PR06 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278072   ⟸   XM_047422116
- Peptide Label: isoform X2
- UniProtKB: A0A9H4ATX5 (UniProtKB/TrEMBL),   A0A1W2PR06 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217005   ⟸   XM_054361030
- Peptide Label: isoform X1
- UniProtKB: Q6NSZ7 (UniProtKB/Swiss-Prot),   Q14CQ6 (UniProtKB/Swiss-Prot),   P52569 (UniProtKB/Swiss-Prot),   O15292 (UniProtKB/Swiss-Prot),   O15291 (UniProtKB/Swiss-Prot),   B7ZL54 (UniProtKB/Swiss-Prot),   Q86TC6 (UniProtKB/Swiss-Prot),   A0A1W2PR06 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217003   ⟸   XM_054361028
- Peptide Label: isoform X1
- UniProtKB: Q6NSZ7 (UniProtKB/Swiss-Prot),   Q14CQ6 (UniProtKB/Swiss-Prot),   P52569 (UniProtKB/Swiss-Prot),   O15292 (UniProtKB/Swiss-Prot),   O15291 (UniProtKB/Swiss-Prot),   B7ZL54 (UniProtKB/Swiss-Prot),   Q86TC6 (UniProtKB/Swiss-Prot),   A0A1W2PR06 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217006   ⟸   XM_054361031
- Peptide Label: isoform X2
- UniProtKB: A0A9H4ATX5 (UniProtKB/TrEMBL),   A0A1W2PR06 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217007   ⟸   XM_054361032
- Peptide Label: isoform X2
- UniProtKB: A0A9H4ATX5 (UniProtKB/TrEMBL),   A0A1W2PR06 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217004   ⟸   XM_054361029
- Peptide Label: isoform X1
- UniProtKB: Q6NSZ7 (UniProtKB/Swiss-Prot),   Q14CQ6 (UniProtKB/Swiss-Prot),   P52569 (UniProtKB/Swiss-Prot),   O15292 (UniProtKB/Swiss-Prot),   O15291 (UniProtKB/Swiss-Prot),   B7ZL54 (UniProtKB/Swiss-Prot),   Q86TC6 (UniProtKB/Swiss-Prot),   A0A1W2PR06 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000635749   ⟸   ENST00000965690
Ensembl Acc Id: ENSP00000578602   ⟸   ENST00000908543
Ensembl Acc Id: ENSP00000578598   ⟸   ENST00000908539
Ensembl Acc Id: ENSP00000578600   ⟸   ENST00000908541
Ensembl Acc Id: ENSP00000635750   ⟸   ENST00000965691
Ensembl Acc Id: ENSP00000578599   ⟸   ENST00000908540
Ensembl Acc Id: ENSP00000585186   ⟸   ENST00000915127
Ensembl Acc Id: ENSP00000578601   ⟸   ENST00000908542
Ensembl Acc Id: ENSP00000585187   ⟸   ENST00000915128
Ensembl Acc Id: ENSP00000635751   ⟸   ENST00000965692
Ensembl Acc Id: ENSP00000578603   ⟸   ENST00000908544
Ensembl Acc Id: ENSP00000585185   ⟸   ENST00000915126
Protein Domains
Cationic amino acid transporter C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P52569-F1-model_v2 AlphaFold P52569 1-658 view protein structure

Promoters
RGD ID:6807033
Promoter ID:HG_KWN:60805
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:UC003WXO.2,   UC003WXP.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36817,439,691 - 17,440,892 (+)MPROMDB
RGD ID:6807035
Promoter ID:HG_KWN:60806
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:UC010LSX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36817,444,841 - 17,445,392 (+)MPROMDB
RGD ID:7212697
Promoter ID:EPDNEW_H12094
Type:initiation region
Name:SLC7A2_2
Description:solute carrier family 7 member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12096  EPDNEW_H12095  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,494,354 - 17,494,414EPDNEW
RGD ID:7212701
Promoter ID:EPDNEW_H12095
Type:initiation region
Name:SLC7A2_1
Description:solute carrier family 7 member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12094  EPDNEW_H12096  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,497,088 - 17,497,148EPDNEW
RGD ID:7212699
Promoter ID:EPDNEW_H12096
Type:multiple initiation site
Name:SLC7A2_3
Description:solute carrier family 7 member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12094  EPDNEW_H12095  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,497,482 - 17,497,542EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11060 AgrOrtholog
COSMIC SLC7A2 COSMIC
Ensembl Genes ENSG00000003989 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000004531 ENTREZGENE
  ENST00000004531.14 UniProtKB/Swiss-Prot
  ENST00000398090 ENTREZGENE
  ENST00000398090.3 UniProtKB/Swiss-Prot
  ENST00000494857 ENTREZGENE
  ENST00000494857.6 UniProtKB/Swiss-Prot
  ENST00000522656 ENTREZGENE
  ENST00000522656.5 UniProtKB/Swiss-Prot
  ENST00000640220.1 UniProtKB/Swiss-Prot
  ENST00000908539 ENTREZGENE
  ENST00000908540 ENTREZGENE
  ENST00000908541 ENTREZGENE
  ENST00000908542 ENTREZGENE
Gene3D-CATH Amino acid/polyamine transporter I UniProtKB/Swiss-Prot
GTEx ENSG00000003989 GTEx
HGNC ID HGNC:11060 ENTREZGENE
Human Proteome Map SLC7A2 Human Proteome Map
InterPro AA/rel_permease1 UniProtKB/Swiss-Prot
  Cat_AA_permease UniProtKB/Swiss-Prot
  CAT_C UniProtKB/Swiss-Prot
KEGG Report hsa:6542 UniProtKB/Swiss-Prot
NCBI Gene 6542 ENTREZGENE
OMIM 601872 OMIM
PANTHER CATIONIC AMINO ACID TRANSPORTER 2 UniProtKB/Swiss-Prot
  INNER MEMBRANE TRANSPORTER YGJI-RELATED UniProtKB/Swiss-Prot
Pfam AA_permease_2 UniProtKB/Swiss-Prot
  AA_permease_C UniProtKB/Swiss-Prot
PharmGKB PA35920 PharmGKB
UniProt A0A1W2PR06 ENTREZGENE, UniProtKB/TrEMBL
  A0A9H4ATX5 ENTREZGENE, UniProtKB/TrEMBL
  B7ZL54 ENTREZGENE
  CTR2_HUMAN UniProtKB/Swiss-Prot
  O15291 ENTREZGENE
  O15292 ENTREZGENE
  P52569 ENTREZGENE
  Q14CQ6 ENTREZGENE
  Q6NSZ7 ENTREZGENE
  Q86TC6 ENTREZGENE
UniProt Secondary B7ZL54 UniProtKB/Swiss-Prot
  O15291 UniProtKB/Swiss-Prot
  O15292 UniProtKB/Swiss-Prot
  Q14CQ6 UniProtKB/Swiss-Prot
  Q6NSZ7 UniProtKB/Swiss-Prot
  Q86TC6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-08 SLC7A2  solute carrier family 7 member 2    solute carrier family 7 (cationic amino acid transporter, y+ system), member 2  Symbol and/or name change 5135510 APPROVED
2011-10-18 SLC7A2  solute carrier family 7 (cationic amino acid transporter, y+ system), member 2  SLC7A2  solute carrier family 7 (cationic amino acid transporter, y+ system), member 2  Symbol and/or name change 5135510 APPROVED