COA8 (cytochrome c oxidase assembly factor 8) - Rat Genome Database

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Gene: COA8 (cytochrome c oxidase assembly factor 8) Homo sapiens
Analyze
Symbol: COA8
Name: cytochrome c oxidase assembly factor 8
RGD ID: 1312327
HGNC Page HGNC:20492
Description: Involved in several processes, including mitochondrial cytochrome c oxidase assembly; positive regulation of cytochrome-c oxidase activity; and protein stabilization. Located in matrix side of mitochondrial inner membrane. Implicated in mitochondrial complex IV deficiency nuclear type 17.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: APOP; APOP1; APOPT1; apoptogenic 1; apoptogenic 1, mitochondrial; apoptogenic protein 1; apoptogenic protein 1, mitochondrial; C14orf153; chromosome 14 open reading frame 153; hypothetical protein LOC84334; MC4DN17; MGC2562; UPF0671 protein C14orf153
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3814103,562,960 - 103,590,899 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl14103,562,960 - 103,607,523 (+)EnsemblGRCh38hg38GRCh38
GRCh3714104,029,297 - 104,057,236 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3614103,099,084 - 103,128,277 (+)NCBINCBI36Build 36hg18NCBI36
Build 3414103,099,083 - 103,128,261NCBI
Celera1484,083,545 - 84,111,477 (+)NCBICelera
Cytogenetic Map14q32.33NCBI
HuRef1484,207,680 - 84,235,763 (+)NCBIHuRef
CHM1_114103,967,493 - 103,995,428 (+)NCBICHM1_1
T2T-CHM13v2.01497,799,005 - 97,826,938 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8125298   PMID:12477932   PMID:15342556   PMID:15489334   PMID:16712791   PMID:16782708   PMID:18977203   PMID:20877624   PMID:21873635   PMID:23824909   PMID:24162774   PMID:25056061  
PMID:25175347   PMID:26186194   PMID:27609421   PMID:28514442   PMID:30552096   PMID:31091453   PMID:31555154   PMID:33961781   PMID:34800366  


Genomics

Comparative Map Data
COA8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3814103,562,960 - 103,590,899 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl14103,562,960 - 103,607,523 (+)EnsemblGRCh38hg38GRCh38
GRCh3714104,029,297 - 104,057,236 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3614103,099,084 - 103,128,277 (+)NCBINCBI36Build 36hg18NCBI36
Build 3414103,099,083 - 103,128,261NCBI
Celera1484,083,545 - 84,111,477 (+)NCBICelera
Cytogenetic Map14q32.33NCBI
HuRef1484,207,680 - 84,235,763 (+)NCBIHuRef
CHM1_114103,967,493 - 103,995,428 (+)NCBICHM1_1
T2T-CHM13v2.01497,799,005 - 97,826,938 (+)NCBIT2T-CHM13v2.0
Coa8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3912111,679,394 - 111,721,491 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl12111,679,695 - 111,721,487 (+)EnsemblGRCm39 Ensembl
GRCm3812111,713,268 - 111,755,057 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl12111,713,261 - 111,755,053 (+)EnsemblGRCm38mm10GRCm38
MGSCv3712112,951,480 - 112,993,266 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3612112,161,079 - 112,181,999 (+)NCBIMGSCv36mm8
Celera12112,907,511 - 112,957,133 (+)NCBICelera
Cytogenetic Map12F1NCBI
cM Map1261.11NCBI
Coa8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86136,593,399 - 136,618,237 (+)NCBIGRCr8
mRatBN7.26130,772,218 - 130,797,081 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl6130,771,199 - 130,797,081 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx6130,939,429 - 130,964,335 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.06131,236,399 - 131,261,305 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.06130,602,427 - 130,627,198 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.06136,185,772 - 136,210,936 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.06136,279,476 - 136,304,317 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6136,279,496 - 136,304,095 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl6136,185,487 - 136,210,940 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06144,205,803 - 144,230,967 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46136,495,214 - 136,520,116 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.16136,501,406 - 136,526,300 (+)NCBI
Celera6128,327,965 - 128,352,225 (+)NCBICelera
Cytogenetic Map6q32NCBI
Apopt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555382,415,604 - 2,434,658 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555382,415,781 - 2,432,742 (+)NCBIChiLan1.0ChiLan1.0
LOC100994669
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v215104,722,238 - 104,750,615 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan114103,938,718 - 103,985,710 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01484,189,323 - 84,217,230 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.114104,000,696 - 104,027,230 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl14104,000,692 - 104,027,230 (+)Ensemblpanpan1.1panPan2
COA8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1871,324,271 - 71,357,468 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl871,318,244 - 71,357,466 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha870,836,065 - 70,868,225 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0871,600,822 - 71,633,185 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl871,600,828 - 71,632,967 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1871,289,897 - 71,322,193 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0871,329,474 - 71,362,251 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0871,728,858 - 71,761,268 (+)NCBIUU_Cfam_GSD_1.0
APOPT1
(Sus scrofa - pig)		 No map positions available.
LOC103229762
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12481,503,069 - 81,533,578 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2481,503,134 - 81,535,430 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605368,807,395 - 68,837,872 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Apopt1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247341,293,851 - 1,315,454 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247341,295,053 - 1,315,620 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in COA8
161 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001370595.2(COA8):c.517_518insTTTT (p.Gly173fs) insertion not provided [RCV000722532] Chr14:103590221..103590222 [GRCh38]
Chr14:104056558..104056559 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1 copy number loss See cases [RCV000050938] Chr14:100309382..106855263 [GRCh38]
Chr14:100775719..107263478 [GRCh37]
Chr14:99845472..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1 copy number loss See cases [RCV000050696] Chr14:97938637..106855263 [GRCh38]
Chr14:98404974..107263478 [GRCh37]
Chr14:97474727..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101994084-106855405)x1 copy number loss See cases [RCV000051578] Chr14:101994084..106855405 [GRCh38]
Chr14:102460421..107263620 [GRCh37]
Chr14:101530174..106334665 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1 copy number loss See cases [RCV000051579] Chr14:102210395..104449321 [GRCh38]
Chr14:102676732..104926965 [GRCh37]
Chr14:101746485..103998010 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1 copy number loss See cases [RCV000051580] Chr14:102584963..104898605 [GRCh38]
Chr14:103051300..105364942 [GRCh37]
Chr14:102121053..104435987 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100590353-106855264)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|See cases [RCV000051553] Chr14:100590353..106855264 [GRCh38]
Chr14:101056690..107263479 [GRCh37]
Chr14:100126443..106334524 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1 copy number loss See cases [RCV000051113] Chr14:100808300..106855263 [GRCh38]
Chr14:101274637..107263478 [GRCh37]
Chr14:100344390..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:94628219-106451054)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|See cases [RCV000052298] Chr14:94628219..106451054 [GRCh38]
Chr14:95094556..106906960 [GRCh37]
Chr14:94164309..105978005 [NCBI36]
Chr14:14q32.13-32.33		 pathogenic
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 copy number gain See cases [RCV000052295] Chr14:86094030..106832642 [GRCh38]
Chr14:86560374..107240869 [GRCh37]
Chr14:85630127..106311914 [NCBI36]
Chr14:14q31.3-32.33		 pathogenic
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 copy number gain See cases [RCV000052294] Chr14:83912345..106855405 [GRCh38]
Chr14:84378689..107263620 [GRCh37]
Chr14:83448442..106334665 [NCBI36]
Chr14:14q31.2-32.33		 pathogenic
NM_001370595.2(COA8):c.196C>T (p.Arg66Ter) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 17 [RCV000144485] Chr14:103571695 [GRCh38]
Chr14:104038032 [GRCh37]
Chr14:14q32.33		 pathogenic
NM_001370595.2(COA8):c.124-1G>A single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 17 [RCV000144486] Chr14:103571622 [GRCh38]
Chr14:104037959 [GRCh37]
Chr14:14q32.33		 pathogenic
NM_001370595.2(COA8):c.314T>C (p.Phe105Ser) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 17 [RCV001261875] Chr14:103571813 [GRCh38]
Chr14:104038150 [GRCh37]
Chr14:14q32.33		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001370595.2(COA8):c.328GAA[1] (p.Glu111del) microsatellite Mitochondrial complex 4 deficiency, nuclear type 17 [RCV000144488] Chr14:103574111..103574113 [GRCh38]
Chr14:104040448..104040450 [GRCh37]
Chr14:14q32.33		 pathogenic
NM_001370595.2(COA8):c.321+2T>A single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 17 [RCV003111524] Chr14:103571822 [GRCh38]
Chr14:104038159 [GRCh37]
Chr14:14q32.33		 likely pathogenic
NM_001370595.2(COA8):c.321+168G>A single nucleotide variant not provided [RCV001572159] Chr14:103571988 [GRCh38]
Chr14:104038325 [GRCh37]
Chr14:14q32.33		 likely benign
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3 copy number gain See cases [RCV000135410] Chr14:100309382..105987610 [GRCh38]
Chr14:100775719..106453697 [GRCh37]
Chr14:99845472..105524742 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 copy number gain See cases [RCV000052296] Chr14:91455861..106832642 [GRCh38]
Chr14:91922205..107240869 [GRCh37]
Chr14:90991958..106311914 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1 copy number loss See cases [RCV000133831] Chr14:99831655..106855263 [GRCh38]
Chr14:100297992..107263478 [GRCh37]
Chr14:99367745..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3 copy number gain See cases [RCV000135875] Chr14:99448012..106850609 [GRCh38]
Chr14:99914349..107258824 [GRCh37]
Chr14:98984102..106329869 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3 copy number gain See cases [RCV000135896] Chr14:92540983..104863658 [GRCh38]
Chr14:93007328..105329995 [GRCh37]
Chr14:92077081..104401040 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1 copy number loss See cases [RCV000136032] Chr14:95524407..106879501 [GRCh38]
Chr14:95990744..107287708 [GRCh37]
Chr14:95060497..106358753 [NCBI36]
Chr14:14q32.13-32.33		 pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1 copy number loss See cases [RCV000139633] Chr14:101925670..106876323 [GRCh38]
Chr14:102392007..107284531 [GRCh37]
Chr14:101461760..106355576 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1 copy number loss See cases [RCV000141932] Chr14:102239422..106877229 [GRCh38]
Chr14:102705759..107285437 [GRCh37]
Chr14:101775512..106356482 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1 copy number loss See cases [RCV000142453] Chr14:101665602..106855263 [GRCh38]
Chr14:102131939..107263478 [GRCh37]
Chr14:101201692..106334523 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3 copy number gain See cases [RCV000142593] Chr14:103322414..106855263 [GRCh38]
Chr14:103788751..107263478 [GRCh37]
Chr14:102858504..106334523 [NCBI36]
Chr14:14q32.32-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1 copy number loss See cases [RCV000143154] Chr14:102605096..106879298 [GRCh38]
Chr14:103071433..107287505 [GRCh37]
Chr14:102141186..106358550 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.32-32.33(chr14:103332197-104435594)x3 copy number gain See cases [RCV000143756] Chr14:103332197..104435594 [GRCh38]
Chr14:103798534..104901931 [GRCh37]
Chr14:102868287..103972976 [NCBI36]
Chr14:14q32.32-32.33		 uncertain significance
GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1 copy number loss See cases [RCV000143662] Chr14:100582059..106877229 [GRCh38]
Chr14:101048396..107285437 [GRCh37]
Chr14:100118149..106356482 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
NM_001370595.2(COA8):c.*122C>T single nucleotide variant not provided [RCV001574801] Chr14:103590408 [GRCh38]
Chr14:104056745 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.477-56C>T single nucleotide variant not provided [RCV001574845] Chr14:103590125 [GRCh38]
Chr14:104056462 [GRCh37]
Chr14:14q32.33		 likely benign
GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934) copy number gain not provided [RCV000767752] Chr14:100575917..107281934 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
NM_001370595.2(COA8):c.123+6C>T single nucleotide variant Inborn genetic diseases [RCV004024974]|Mitochondrial complex 4 deficiency, nuclear type 17 [RCV002498949]|not specified [RCV000603565] Chr14:103563130 [GRCh38]
Chr14:104029467 [GRCh37]
Chr14:14q32.33		 likely benign|uncertain significance
GRCh37/hg19 14q32.32-32.33(chr14:103711336-107285437)x1 copy number loss See cases [RCV000446081] Chr14:103711336..107285437 [GRCh37]
Chr14:14q32.32-32.33		 pathogenic
GRCh37/hg19 14q32.32-32.33(chr14:103566945-104053697)x1 copy number loss See cases [RCV000446810] Chr14:103566945..104053697 [GRCh37]
Chr14:14q32.32-32.33		 pathogenic|uncertain significance
GRCh37/hg19 14q32.2-32.33(chr14:98051841-107285437)x3 copy number gain See cases [RCV000446497] Chr14:98051841..107285437 [GRCh37]
Chr14:14q32.2-32.33		 likely pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_001370595.2(COA8):c.123+12C>T single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 17 [RCV002481328]|not specified [RCV000431555] Chr14:103563136 [GRCh38]
Chr14:104029473 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.40C>A (p.Pro14Thr) single nucleotide variant COA8-related disorder [RCV003959894]|not provided [RCV000969962]|not specified [RCV000431734] Chr14:103563041 [GRCh38]
Chr14:104029378 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.111G>A (p.Thr37=) single nucleotide variant not provided [RCV000676912]|not specified [RCV000438654] Chr14:103563112 [GRCh38]
Chr14:104029449 [GRCh37]
Chr14:14q32.33		 benign
NM_001370595.2(COA8):c.351A>G (p.Leu117=) single nucleotide variant COA8-related disorder [RCV003972592]|Mitochondrial complex 4 deficiency, nuclear type 17 [RCV002502500]|not provided [RCV000676913]|not specified [RCV000418633] Chr14:103574136 [GRCh38]
Chr14:104040473 [GRCh37]
Chr14:14q32.33		 benign|likely benign
NM_001370595.2(COA8):c.41C>G (p.Pro14Arg) single nucleotide variant not provided [RCV000886912]|not specified [RCV000432283] Chr14:103563042 [GRCh38]
Chr14:104029379 [GRCh37]
Chr14:14q32.33		 benign|likely benign
NM_001370595.2(COA8):c.385+11T>G single nucleotide variant not provided [RCV002230252]|not specified [RCV000442998] Chr14:103574181 [GRCh38]
Chr14:104040518 [GRCh37]
Chr14:14q32.33		 benign|likely benign
NM_001370595.2(COA8):c.23A>G (p.Lys8Arg) single nucleotide variant COA8-related disorder [RCV003912607]|not provided [RCV000424487]|not specified [RCV000480235] Chr14:103563024 [GRCh38]
Chr14:104029361 [GRCh37]
Chr14:14q32.33		 benign
NC_000014.9:g.103562952G>T single nucleotide variant not specified [RCV000429169] Chr14:103562952 [GRCh38]
Chr14:104029289 [GRCh37]
Chr14:14q32.33		 benign
NM_001370595.2(COA8):c.40C>G (p.Pro14Ala) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 17 [RCV001553839]|not provided [RCV000676910]|not specified [RCV000429272] Chr14:103563041 [GRCh38]
Chr14:104029378 [GRCh37]
Chr14:14q32.33		 benign
NM_001370595.2(COA8):c.386-12A>G single nucleotide variant not specified [RCV000439683] Chr14:103587262 [GRCh38]
Chr14:104053599 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.476+19C>T single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 17 [RCV002480304]|not provided [RCV002230047]|not specified [RCV000423285] Chr14:103587383 [GRCh38]
Chr14:104053720 [GRCh37]
Chr14:14q32.33		 benign|likely benign
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33		 pathogenic
GRCh37/hg19 14q32.32-32.33(chr14:103390060-104436909)x1 copy number loss See cases [RCV000448868] Chr14:103390060..104436909 [GRCh37]
Chr14:14q32.32-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1 copy number loss See cases [RCV000510629] Chr14:103153637..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q32.32-32.33(chr14:103965059-107285437)x1 copy number loss See cases [RCV000511801] Chr14:103965059..107285437 [GRCh37]
Chr14:14q32.32-32.33		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1 copy number loss See cases [RCV000511171] Chr14:100661319..107285437 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102670706-107285437)x1 copy number loss See cases [RCV000511173] Chr14:102670706..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_001370595.2(COA8):c.476+1G>A single nucleotide variant Mitochondrial complex IV deficiency, nuclear type 1 [RCV000625884] Chr14:103587365 [GRCh38]
Chr14:104053702 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.123+10G>A single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 17 [RCV002483693]|not provided [RCV002232742]|not specified [RCV000600358] Chr14:103563134 [GRCh38]
Chr14:104029471 [GRCh37]
Chr14:14q32.33		 benign|likely benign
NM_001370595.2(COA8):c.216A>C (p.Ile72=) single nucleotide variant not specified [RCV000613659] Chr14:103571715 [GRCh38]
Chr14:104038052 [GRCh37]
Chr14:14q32.33		 likely benign
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33		 pathogenic
NM_001370595.2(COA8):c.476+7G>A single nucleotide variant not provided [RCV000676914] Chr14:103587371 [GRCh38]
Chr14:104053708 [GRCh37]
Chr14:14q32.33		 likely benign|uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:102191861-106019451)x3 copy number gain not provided [RCV000683623] Chr14:102191861..106019451 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_001370595.2(COA8):c.477-318G>A single nucleotide variant not provided [RCV001566789] Chr14:103589863 [GRCh38]
Chr14:104056200 [GRCh37]
Chr14:14q32.33		 likely benign
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:101627916-107147698)x1 copy number loss not provided [RCV000848417] Chr14:101627916..107147698 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_001370595.2(COA8):c.167T>A (p.Ile56Lys) single nucleotide variant Inborn genetic diseases [RCV003246025] Chr14:103571666 [GRCh38]
Chr14:104038003 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.321+42T>C single nucleotide variant not provided [RCV001577919] Chr14:103571862 [GRCh38]
Chr14:104038199 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.507C>T (p.Thr169=) single nucleotide variant COA8-related disorder [RCV003950809]|not provided [RCV000914672] Chr14:103590211 [GRCh38]
Chr14:104056548 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.104G>A (p.Arg35Lys) single nucleotide variant not provided [RCV000900134] Chr14:103563105 [GRCh38]
Chr14:104029442 [GRCh37]
Chr14:14q32.33		 benign
NM_001370595.2(COA8):c.192C>T (p.Asn64=) single nucleotide variant not provided [RCV000923245] Chr14:103571691 [GRCh38]
Chr14:104038028 [GRCh37]
Chr14:14q32.33		 likely benign|conflicting interpretations of pathogenicity
NM_001370595.2(COA8):c.288G>A (p.Gln96=) single nucleotide variant not provided [RCV000897927] Chr14:103571787 [GRCh38]
Chr14:104038124 [GRCh37]
Chr14:14q32.33		 likely benign
GRCh37/hg19 14q32.31-32.33(chr14:102931119-107285437)x1 copy number loss not provided [RCV000847188] Chr14:102931119..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q32.32-32.33(chr14:103804791-105677579) copy number loss not provided [RCV000767716] Chr14:103804791..105677579 [GRCh37]
Chr14:14q32.32-32.33		 likely pathogenic
NM_001370595.2(COA8):c.477-283A>C single nucleotide variant not provided [RCV000828864] Chr14:103589898 [GRCh38]
Chr14:104056235 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.386-203A>G single nucleotide variant not provided [RCV000832926] Chr14:103587071 [GRCh38]
Chr14:104053408 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.124-91G>A single nucleotide variant not provided [RCV000836541] Chr14:103571532 [GRCh38]
Chr14:104037869 [GRCh37]
Chr14:14q32.33		 benign
NM_001370595.2(COA8):c.476+63C>T single nucleotide variant not provided [RCV000835492] Chr14:103587427 [GRCh38]
Chr14:104053764 [GRCh37]
Chr14:14q32.33		 benign
NM_032374.4:c.-177C>A single nucleotide variant not provided [RCV000832378] Chr14:103562786 [GRCh38]
Chr14:104029123 [GRCh37]
Chr14:14q32.33		 benign
NM_001370595.2(COA8):c.385+125A>G single nucleotide variant not provided [RCV000836295] Chr14:103574295 [GRCh38]
Chr14:104040632 [GRCh37]
Chr14:14q32.33		 benign
NM_001370595.2(COA8):c.41dup (p.Leu15fs) duplication Mitochondrial complex IV deficiency, nuclear type 1 [RCV000791189] Chr14:103563036..103563037 [GRCh38]
Chr14:104029373..104029374 [GRCh37]
Chr14:14q32.33		 likely pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3 copy number gain not provided [RCV000849272] Chr14:99794230..107285437 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3 copy number gain not provided [RCV000848687] Chr14:91969028..107285437 [GRCh37]
Chr14:14q32.12-32.33		 pathogenic
NM_001370595.2(COA8):c.263A>G (p.Gln88Arg) single nucleotide variant not provided [RCV002236629] Chr14:103571762 [GRCh38]
Chr14:104038099 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.537G>A (p.Arg179=) single nucleotide variant not provided [RCV001091163] Chr14:103590241 [GRCh38]
Chr14:104056578 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.49C>G (p.Arg17Gly) single nucleotide variant not provided [RCV003104595] Chr14:103563050 [GRCh38]
Chr14:104029387 [GRCh37]
Chr14:14q32.33		 uncertain significance
NC_000014.8:g.(?_102228231)_(105861009_?)dup duplication Charcot-Marie-Tooth disease axonal type 2O [RCV003107389]|Herpes simplex encephalitis, susceptibility to, 3 [RCV004579596] Chr14:102228231..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NM_001370595.2(COA8):c.470A>G (p.Tyr157Cys) single nucleotide variant not provided [RCV003318075] Chr14:103587358 [GRCh38]
Chr14:104053695 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.476+161del deletion not provided [RCV001546998] Chr14:103587509 [GRCh38]
Chr14:104053846 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.322-6_322-4del deletion not provided [RCV001656754] Chr14:103574079..103574081 [GRCh38]
Chr14:104040416..104040418 [GRCh37]
Chr14:14q32.33		 benign
NM_001370595.2(COA8):c.385+52T>A single nucleotide variant not provided [RCV001559789] Chr14:103574222 [GRCh38]
Chr14:104040559 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.476+161dup duplication not provided [RCV001714502] Chr14:103587508..103587509 [GRCh38]
Chr14:104053845..104053846 [GRCh37]
Chr14:14q32.33		 benign
NM_001370595.2(COA8):c.81T>C (p.Ala27=) single nucleotide variant COA8-related disorder [RCV003975597]|Mitochondrial complex 4 deficiency, nuclear type 17 [RCV002495373]|not provided [RCV000888015] Chr14:103563082 [GRCh38]
Chr14:104029419 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.-34G>A single nucleotide variant COA8-related disorder [RCV003902979]|not provided [RCV000918600] Chr14:103562968 [GRCh38]
Chr14:104029305 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.117C>T (p.Pro39=) single nucleotide variant not provided [RCV000920259] Chr14:103563118 [GRCh38]
Chr14:104029455 [GRCh37]
Chr14:14q32.33		 likely benign
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3 copy number gain not provided [RCV002472581] Chr14:84537502..107285437 [GRCh37]
Chr14:14q31.2-32.33		 pathogenic
NM_001370595.2(COA8):c.476+149T>C single nucleotide variant not provided [RCV001639644] Chr14:103587513 [GRCh38]
Chr14:104053850 [GRCh37]
Chr14:14q32.33		 benign
NM_001370595.2(COA8):c.*123C>G single nucleotide variant not provided [RCV001527730] Chr14:103590409 [GRCh38]
Chr14:104056746 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.476+283A>G single nucleotide variant not provided [RCV001545169] Chr14:103587647 [GRCh38]
Chr14:104053984 [GRCh37]
Chr14:14q32.33		 likely benign
NC_000014.9:g.103562805G>A single nucleotide variant not provided [RCV001549312] Chr14:103562805 [GRCh38]
Chr14:104029142 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.386-5854C>T single nucleotide variant not provided [RCV001621213] Chr14:103581420 [GRCh38]
Chr14:104047757 [GRCh37]
Chr14:14q32.33		 benign
GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1 copy number loss See cases [RCV001195078] Chr14:96829290..107287663 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
NC_000014.9:g.103562854GCC[3] microsatellite not provided [RCV001648325] Chr14:103562851..103562852 [GRCh38]
Chr14:104029188..104029189 [GRCh37]
Chr14:14q32.33		 benign
NM_001370595.2(COA8):c.322-4dup duplication not provided [RCV001725302] Chr14:103574078..103574079 [GRCh38]
Chr14:104040415..104040416 [GRCh37]
Chr14:14q32.33		 benign
NM_001370595.2(COA8):c.322-30C>A single nucleotide variant not provided [RCV001612765] Chr14:103574077 [GRCh38]
Chr14:104040414 [GRCh37]
Chr14:14q32.33		 benign
NM_001370595.2(COA8):c.322-5_322-4dup duplication COA8-related disorder [RCV003931269]|not provided [RCV001671017] Chr14:103574078..103574079 [GRCh38]
Chr14:104040415..104040416 [GRCh37]
Chr14:14q32.33		 benign
NM_001370595.2(COA8):c.67G>T (p.Gly23Cys) single nucleotide variant Inborn genetic diseases [RCV004978349]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001335206]|not provided [RCV002546720] Chr14:103563068 [GRCh38]
Chr14:104029405 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.40C>T (p.Pro14Ser) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 17 [RCV002493888]|not provided [RCV001371286] Chr14:103563041 [GRCh38]
Chr14:104029378 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.-10dup duplication Inborn genetic diseases [RCV004035716]|Mitochondrial complex 4 deficiency, nuclear type 17 [RCV001810031]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001331472]|not provided [RCV002298934] Chr14:103562987..103562988 [GRCh38]
Chr14:104029324..104029325 [GRCh37]
Chr14:14q32.33		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NC_000014.9:g.103562909G>A single nucleotide variant not provided [RCV001686209] Chr14:103562909 [GRCh38]
Chr14:104029246 [GRCh37]
Chr14:14q32.33		 benign
NM_001370595.2(COA8):c.322-4del deletion not provided [RCV001655410] Chr14:103574079 [GRCh38]
Chr14:104040416 [GRCh37]
Chr14:14q32.33		 benign
NM_001370595.2(COA8):c.322-5_322-4del deletion not provided [RCV001644128] Chr14:103574079..103574080 [GRCh38]
Chr14:104040416..104040417 [GRCh37]
Chr14:14q32.33		 benign
NM_001370595.2(COA8):c.*339T>C single nucleotide variant not provided [RCV001687566] Chr14:103590625 [GRCh38]
Chr14:104056962 [GRCh37]
Chr14:14q32.33		 benign
NM_001370595.2(COA8):c.123+60G>A single nucleotide variant not provided [RCV001590255] Chr14:103563184 [GRCh38]
Chr14:104029521 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.-16C>T single nucleotide variant not provided [RCV002236619] Chr14:103562986 [GRCh38]
Chr14:104029323 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.-7T>G single nucleotide variant not provided [RCV002236621] Chr14:103562995 [GRCh38]
Chr14:104029332 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.49C>T (p.Arg17Cys) single nucleotide variant not provided [RCV002236623] Chr14:103563050 [GRCh38]
Chr14:104029387 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.433G>A (p.Glu145Lys) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 17 [RCV002496175]|not provided [RCV002236635] Chr14:103587321 [GRCh38]
Chr14:104053658 [GRCh37]
Chr14:14q32.33		 uncertain significance
NC_000014.8:g.(?_102442029)_(105861009_?)del deletion Charcot-Marie-Tooth disease axonal type 2O [RCV003107388] Chr14:102442029..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NC_000014.8:g.(?_103336539)_(105861009_?)dup duplication not provided [RCV002239722] Chr14:103336539..105861009 [GRCh37]
Chr14:14q32.32-32.33		 uncertain significance
NM_001370595.2(COA8):c.123G>A (p.Gly41=) single nucleotide variant not provided [RCV002239723] Chr14:103563124 [GRCh38]
Chr14:104029461 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.123+10G>C single nucleotide variant COA8-related disorder [RCV003960954]|Mitochondrial complex 4 deficiency, nuclear type 17 [RCV002502049]|not provided [RCV002239724] Chr14:103563134 [GRCh38]
Chr14:104029471 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.172C>A (p.Pro58Thr) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 17 [RCV002496174]|not provided [RCV002239726] Chr14:103571671 [GRCh38]
Chr14:104038008 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.36C>T (p.Leu12=) single nucleotide variant not provided [RCV002236622] Chr14:103563037 [GRCh38]
Chr14:104029374 [GRCh37]
Chr14:14q32.33		 likely benign|conflicting interpretations of pathogenicity
NM_001370595.2(COA8):c.69C>A (p.Gly23=) single nucleotide variant not provided [RCV002236624] Chr14:103563070 [GRCh38]
Chr14:104029407 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.197G>A (p.Arg66Gln) single nucleotide variant Inborn genetic diseases [RCV004045091]|Mitochondrial complex 4 deficiency, nuclear type 17 [RCV002505891]|not provided [RCV002236628] Chr14:103571696 [GRCh38]
Chr14:104038033 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.362G>T (p.Gly121Val) single nucleotide variant not provided [RCV002236633] Chr14:103574147 [GRCh38]
Chr14:104040484 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.56_70del (p.Phe19_Gly23del) deletion not provided [RCV001730412] Chr14:103563055..103563069 [GRCh38]
Chr14:104029392..104029406 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.85G>A (p.Glu29Lys) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 17 [RCV002487034]|not provided [RCV002236625] Chr14:103563086 [GRCh38]
Chr14:104029423 [GRCh37]
Chr14:14q32.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_001370595.2(COA8):c.97G>A (p.Glu33Lys) single nucleotide variant Inborn genetic diseases [RCV004973375]|Mitochondrial complex 4 deficiency, nuclear type 17 [RCV002496173]|not provided [RCV002236627] Chr14:103563098 [GRCh38]
Chr14:104029435 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.322-14_322-4del deletion not provided [RCV002236630] Chr14:103574079..103574089 [GRCh38]
Chr14:104040416..104040426 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.129A>C (p.Ser43=) single nucleotide variant COA8-related disorder [RCV003960955]|Mitochondrial complex 4 deficiency, nuclear type 17 [RCV002487035]|not provided [RCV002239725] Chr14:103571628 [GRCh38]
Chr14:104037965 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.527C>G (p.Ala176Gly) single nucleotide variant not provided [RCV003237587] Chr14:103590231 [GRCh38]
Chr14:104056568 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.385+471A>C single nucleotide variant not provided [RCV001776771] Chr14:103574641 [GRCh38]
Chr14:104040978 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.388C>G (p.Gln130Glu) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 17 [RCV001808927] Chr14:103587276 [GRCh38]
Chr14:104053613 [GRCh37]
Chr14:14q32.33		 likely pathogenic
NM_001370595.2(COA8):c.322-6_322-4dup duplication not provided [RCV001797249] Chr14:103574078..103574079 [GRCh38]
Chr14:104040415..104040416 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.386-5533G>A single nucleotide variant not provided [RCV001776868] Chr14:103581741 [GRCh38]
Chr14:104048078 [GRCh37]
Chr14:14q32.33		 likely benign
GRCh37/hg19 14q32.31-32.33(chr14:101732158-107285437) copy number loss not specified [RCV002052456] Chr14:101732158..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:101593860-106160500)x1 copy number loss not provided [RCV001829204] Chr14:101593860..106160500 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NC_000014.8:g.(?_102229222)_(105861009_?)dup duplication not provided [RCV003120748] Chr14:102229222..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NM_001370595.2(COA8):c.89_108dup (p.Thr37fs) duplication not provided [RCV002236626] Chr14:103563089..103563090 [GRCh38]
Chr14:104029426..104029427 [GRCh37]
Chr14:14q32.33		 pathogenic
NM_001370595.2(COA8):c.322-7T>G single nucleotide variant not provided [RCV003115836] Chr14:103574100 [GRCh38]
Chr14:104040437 [GRCh37]
Chr14:14q32.33		 likely benign
NC_000014.9:g.102573453_103575949del deletion Mitochondrial complex 4 deficiency, nuclear type 17 [RCV003123350] Chr14:102573453..103575949 [GRCh38]
Chr14:14q32.31-32.33		 pathogenic
NC_000014.8:g.(?_104040424)_(104040527_?)del deletion not provided [RCV003122862] Chr14:104040424..104040527 [GRCh37]
Chr14:14q32.33		 pathogenic
NM_001370595.2(COA8):c.-11G>A single nucleotide variant not provided [RCV002236620] Chr14:103562991 [GRCh38]
Chr14:104029328 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.106G>T (p.Asp36Tyr) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 17 [RCV002505913] Chr14:103563107 [GRCh38]
Chr14:104029444 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.539T>C (p.Ile180Thr) single nucleotide variant not provided [RCV002862326] Chr14:103590243 [GRCh38]
Chr14:104056580 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.50G>T (p.Arg17Leu) single nucleotide variant not provided [RCV002726543] Chr14:103563051 [GRCh38]
Chr14:104029388 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.386-16T>G single nucleotide variant not provided [RCV002681598] Chr14:103587258 [GRCh38]
Chr14:104053595 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.357dup (p.Lys120Ter) duplication not provided [RCV002726894] Chr14:103574141..103574142 [GRCh38]
Chr14:104040478..104040479 [GRCh37]
Chr14:14q32.33		 pathogenic
NM_001370595.2(COA8):c.323A>G (p.Glu108Gly) single nucleotide variant not provided [RCV002571998] Chr14:103574108 [GRCh38]
Chr14:104040445 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.41C>A (p.Pro14His) single nucleotide variant Inborn genetic diseases [RCV004065766]|not provided [RCV002621428] Chr14:103563042 [GRCh38]
Chr14:104029379 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.80C>T (p.Ala27Val) single nucleotide variant Inborn genetic diseases [RCV004071832]|not provided [RCV003079523] Chr14:103563081 [GRCh38]
Chr14:104029418 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.-26C>A single nucleotide variant not provided [RCV002999616] Chr14:103562976 [GRCh38]
Chr14:104029313 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.20G>A (p.Gly7Glu) single nucleotide variant not provided [RCV002923523] Chr14:103563021 [GRCh38]
Chr14:104029358 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.-28C>T single nucleotide variant not provided [RCV002847116] Chr14:103562974 [GRCh38]
Chr14:104029311 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.41C>T (p.Pro14Leu) single nucleotide variant not provided [RCV002786651] Chr14:103563042 [GRCh38]
Chr14:104029379 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.218del (p.Pro73fs) deletion not provided [RCV003042839] Chr14:103571716 [GRCh38]
Chr14:104038053 [GRCh37]
Chr14:14q32.33		 pathogenic
NM_001370595.2(COA8):c.414A>G (p.Glu138=) single nucleotide variant not provided [RCV002766160] Chr14:103587302 [GRCh38]
Chr14:104053639 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.476+4G>C single nucleotide variant not provided [RCV002982930] Chr14:103587368 [GRCh38]
Chr14:104053705 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.566del (p.Lys189fs) deletion not provided [RCV002663313] Chr14:103590267 [GRCh38]
Chr14:104056604 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.419C>T (p.Ala140Val) single nucleotide variant Inborn genetic diseases [RCV004065601]|not provided [RCV002593779] Chr14:103587307 [GRCh38]
Chr14:104053644 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.356C>G (p.Thr119Ser) single nucleotide variant Inborn genetic diseases [RCV003170790]|not provided [RCV002985434] Chr14:103574141 [GRCh38]
Chr14:104040478 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.75A>G (p.Gln25=) single nucleotide variant not provided [RCV002954113] Chr14:103563076 [GRCh38]
Chr14:104029413 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.54C>T (p.Ala18=) single nucleotide variant not provided [RCV002650294] Chr14:103563055 [GRCh38]
Chr14:104029392 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.404A>G (p.Asn135Ser) single nucleotide variant Inborn genetic diseases [RCV004612190]|not provided [RCV002600355] Chr14:103587292 [GRCh38]
Chr14:104053629 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.502A>G (p.Ile168Val) single nucleotide variant not provided [RCV002922294] Chr14:103590206 [GRCh38]
Chr14:104056543 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.414A>C (p.Glu138Asp) single nucleotide variant not provided [RCV002857791] Chr14:103587302 [GRCh38]
Chr14:104053639 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.490C>T (p.Arg164Cys) single nucleotide variant Inborn genetic diseases [RCV003269450]|not provided [RCV003086638] Chr14:103590194 [GRCh38]
Chr14:104056531 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.477-10T>C single nucleotide variant not provided [RCV002654804] Chr14:103590171 [GRCh38]
Chr14:104056508 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.322-16_322-4del deletion not provided [RCV002583514] Chr14:103574079..103574091 [GRCh38]
Chr14:104040416..104040428 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.491G>A (p.Arg164His) single nucleotide variant not provided [RCV002605221] Chr14:103590195 [GRCh38]
Chr14:104056532 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.151T>A (p.Ser51Thr) single nucleotide variant not provided [RCV002657837] Chr14:103571650 [GRCh38]
Chr14:104037987 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.409G>C (p.Glu137Gln) single nucleotide variant Inborn genetic diseases [RCV004073074]|not provided [RCV003073268] Chr14:103587297 [GRCh38]
Chr14:104053634 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.328G>T (p.Glu110Ter) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 17 [RCV003228733] Chr14:103574113 [GRCh38]
Chr14:104040450 [GRCh37]
Chr14:14q32.33		 likely pathogenic
NM_001370595.2(COA8):c.217C>G (p.Pro73Ala) single nucleotide variant Inborn genetic diseases [RCV003201294] Chr14:103571716 [GRCh38]
Chr14:104038053 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.220G>A (p.Glu74Lys) single nucleotide variant Inborn genetic diseases [RCV003218179] Chr14:103571719 [GRCh38]
Chr14:104038056 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.382T>A (p.Ser128Thr) single nucleotide variant Inborn genetic diseases [RCV003192260] Chr14:103574167 [GRCh38]
Chr14:104040504 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.32-32.33(chr14:103636647-107285437)x1 copy number loss not provided [RCV003323337] Chr14:103636647..107285437 [GRCh37]
Chr14:14q32.32-32.33		 pathogenic
NM_001370595.2(COA8):c.91G>C (p.Gly31Arg) single nucleotide variant Inborn genetic diseases [RCV003265715]|not provided [RCV003730494] Chr14:103563092 [GRCh38]
Chr14:104029429 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1 copy number loss Neurodevelopmental disorder [RCV003327606] Chr14:102263440..106874929 [GRCh38]
Chr14:14q32.31-32.33		 pathogenic
NM_001370595.2(COA8):c.170_173dup (p.Pro59fs) duplication Mitochondrial complex 4 deficiency, nuclear type 17 [RCV003332426] Chr14:103571668..103571669 [GRCh38]
Chr14:104038005..104038006 [GRCh37]
Chr14:14q32.33		 pathogenic
GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3 copy number gain not provided [RCV003485051] Chr14:88580184..107285437 [GRCh37]
Chr14:14q31.3-32.33		 pathogenic
NM_001370595.2(COA8):c.184_187del (p.Tyr62fs) deletion not provided [RCV003482478] Chr14:103571683..103571686 [GRCh38]
Chr14:104038020..104038023 [GRCh37]
Chr14:14q32.33		 likely pathogenic
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1 copy number loss not provided [RCV003483217] Chr14:101024609..107285437 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
NM_001370595.2(COA8):c.100C>G (p.Arg34Gly) single nucleotide variant not provided [RCV003443461] Chr14:103563101 [GRCh38]
Chr14:104029438 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.352A>T (p.Lys118Ter) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 17 [RCV003493227] Chr14:103574137 [GRCh38]
Chr14:104040474 [GRCh37]
Chr14:14q32.33		 likely pathogenic
NM_001370595.2(COA8):c.1A>G (p.Met1Val) single nucleotide variant Inborn genetic diseases [RCV004366726]|not provided [RCV003816944] Chr14:103563002 [GRCh38]
Chr14:104029339 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.124-20T>C single nucleotide variant not provided [RCV003816960] Chr14:103571603 [GRCh38]
Chr14:104037940 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.423C>T (p.Asp141=) single nucleotide variant not provided [RCV003721785] Chr14:103587311 [GRCh38]
Chr14:104053648 [GRCh37]
Chr14:14q32.33		 likely benign
GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1 copy number loss not specified [RCV003987056] Chr14:102098959..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_001370595.2(COA8):c.386-5692T>G single nucleotide variant COA8-related disorder [RCV003941511] Chr14:103581582 [GRCh38]
Chr14:104047919 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.95C>G (p.Ala32Gly) single nucleotide variant Inborn genetic diseases [RCV004442364] Chr14:103563096 [GRCh38]
Chr14:104029433 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.-32C>T single nucleotide variant Inborn genetic diseases [RCV004442372] Chr14:103562970 [GRCh38]
Chr14:104029307 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.163T>C (p.Trp55Arg) single nucleotide variant Inborn genetic diseases [RCV004442365] Chr14:103571662 [GRCh38]
Chr14:104037999 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.2T>G (p.Met1Arg) single nucleotide variant Inborn genetic diseases [RCV004442368] Chr14:103563003 [GRCh38]
Chr14:104029340 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.96C>G (p.Ala32=) single nucleotide variant not provided [RCV004546340] Chr14:103563097 [GRCh38]
Chr14:104029434 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.32T>G (p.Phe11Cys) single nucleotide variant Inborn genetic diseases [RCV004442371] Chr14:103563033 [GRCh38]
Chr14:104029370 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.13C>A (p.Arg5=) single nucleotide variant COA8-related disorder [RCV003931519] Chr14:103563014 [GRCh38]
Chr14:104029351 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.322-7_322-4dup duplication COA8-related disorder [RCV003912082] Chr14:103574078..103574079 [GRCh38]
Chr14:104040415..104040416 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.322-7_322-4del deletion COA8-related disorder [RCV003933915] Chr14:103574079..103574082 [GRCh38]
Chr14:104040416..104040419 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.322-8_322-4del deletion COA8-related disorder [RCV003916940] Chr14:103574079..103574083 [GRCh38]
Chr14:104040416..104040420 [GRCh37]
Chr14:14q32.33		 likely benign
GRCh37/hg19 14q32.31-32.33(chr14:101522804-107289470)x1 copy number loss not provided [RCV004577487] Chr14:101522804..107289470 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_001370595.2(COA8):c.185A>G (p.Tyr62Cys) single nucleotide variant Inborn genetic diseases [RCV004615683] Chr14:103571684 [GRCh38]
Chr14:104038021 [GRCh37]
Chr14:14q32.33		 uncertain significance
NC_000014.8:g.(?_102873655)_(105861009_?)del deletion Herpes simplex encephalitis, susceptibility to, 3 [RCV004578149] Chr14:102873655..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NM_001370595.2(COA8):c.247C>T (p.Leu83Phe) single nucleotide variant Inborn genetic diseases [RCV004967898] Chr14:103571746 [GRCh38]
Chr14:104038083 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.214A>G (p.Ile72Val) single nucleotide variant Inborn genetic diseases [RCV004974117] Chr14:103571713 [GRCh38]
Chr14:104038050 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.322-15_322-4del deletion not provided [RCV005087753] Chr14:103574079..103574090 [GRCh38]
Chr14:104040416..104040427 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.477-19A>C single nucleotide variant not provided [RCV005060422] Chr14:103590162 [GRCh38]
Chr14:104056499 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.385+18_385+21del deletion not provided [RCV005074735] Chr14:103574185..103574188 [GRCh38]
Chr14:104040522..104040525 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.201T>C (p.Pro67=) single nucleotide variant not provided [RCV005188394] Chr14:103571700 [GRCh38]
Chr14:104038037 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.123+11del deletion not provided [RCV005169265] Chr14:103563132 [GRCh38]
Chr14:104029469 [GRCh37]
Chr14:14q32.33		 benign
NM_001370595.2(COA8):c.24G>A (p.Lys8=) single nucleotide variant not provided [RCV005184091] Chr14:103563025 [GRCh38]
Chr14:104029362 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.578A>G (p.Asn193Ser) single nucleotide variant not provided [RCV005126903] Chr14:103590282 [GRCh38]
Chr14:104056619 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.102_121dup (p.Gly41fs) duplication Mitochondrial complex 4 deficiency, nuclear type 17 [RCV004596684] Chr14:103563098..103563099 [GRCh38]
Chr14:104029435..104029436 [GRCh37]
Chr14:14q32.33		 likely pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3 copy number gain See cases [RCV000135400] Chr14:97638520..106855263 [GRCh38]
Chr14:98104857..107263478 [GRCh37]
Chr14:97174610..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
NM_001370595.2(COA8):c.224A>G (p.Asn75Ser) single nucleotide variant not provided [RCV000224733] Chr14:103571723 [GRCh38]
Chr14:104038060 [GRCh37]
Chr14:14q32.33		 benign|likely benign
NM_001370595.2(COA8):c.8T>C (p.Val3Ala) single nucleotide variant not provided [RCV000676909]|not specified [RCV000425434] Chr14:103563009 [GRCh38]
Chr14:104029346 [GRCh37]
Chr14:14q32.33		 benign
NM_001370595.2(COA8):c.101G>T (p.Arg34Leu) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 17 [RCV002493119]|not provided [RCV000676911] Chr14:103563102 [GRCh38]
Chr14:104029439 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_001370595.2(COA8):c.476+286G>C single nucleotide variant not provided [RCV000832293] Chr14:103587650 [GRCh38]
Chr14:104053987 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.321+261T>G single nucleotide variant not provided [RCV000843438] Chr14:103572081 [GRCh38]
Chr14:104038418 [GRCh37]
Chr14:14q32.33		 benign
NM_001370595.2(COA8):c.476+162G>C single nucleotide variant not provided [RCV000843439] Chr14:103587526 [GRCh38]
Chr14:104053863 [GRCh37]
Chr14:14q32.33		 benign
NM_001370595.2(COA8):c.322-2dup duplication not provided [RCV002236631] Chr14:103574103..103574104 [GRCh38]
Chr14:104040440..104040441 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.322-4_322-3insTTA insertion not provided [RCV002236632] Chr14:103574103..103574104 [GRCh38]
Chr14:104040440..104040441 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.385+18A>T single nucleotide variant not provided [RCV002236634] Chr14:103574188 [GRCh38]
Chr14:104040525 [GRCh37]
Chr14:14q32.33		 likely benign
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1 copy number loss not provided [RCV001006656] Chr14:103153637..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102615953-107285437)x1 copy number loss not provided [RCV001259801] Chr14:102615953..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_001370595.2(COA8):c.111_112delinsAA (p.Ala38Thr) indel not provided [RCV001309517] Chr14:103563112..103563113 [GRCh38]
Chr14:104029449..104029450 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.-32C>G single nucleotide variant Inborn genetic diseases [RCV003303680]|not provided [RCV002052310] Chr14:103562970 [GRCh38]
Chr14:104029307 [GRCh37]
Chr14:14q32.33		 uncertain significance
NC_000014.8:g.(?_103148212)_(105861009_?)del deletion not provided [RCV002000609] Chr14:103148212..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33		 pathogenic
NM_001370595.2(COA8):c.112G>A (p.Ala38Thr) single nucleotide variant not provided [RCV002300889] Chr14:103563113 [GRCh38]
Chr14:104029450 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.476+15T>C single nucleotide variant not provided [RCV003855545] Chr14:103587379 [GRCh38]
Chr14:104053716 [GRCh37]
Chr14:14q32.33		 likely benign
NM_001370595.2(COA8):c.-9C>T single nucleotide variant Inborn genetic diseases [RCV004442366] Chr14:103562993 [GRCh38]
Chr14:104029330 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.416T>C (p.Met139Thr) single nucleotide variant Inborn genetic diseases [RCV004442369] Chr14:103587304 [GRCh38]
Chr14:104053641 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.2T>C (p.Met1Thr) single nucleotide variant Inborn genetic diseases [RCV004442367] Chr14:103563003 [GRCh38]
Chr14:104029340 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_001370595.2(COA8):c.445A>C (p.Lys149Gln) single nucleotide variant Inborn genetic diseases [RCV004442370] Chr14:103587333 [GRCh38]
Chr14:104053670 [GRCh37]
Chr14:14q32.33		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:3899
Count of miRNA genes:1031
Interacting mature miRNAs:1264
Transcripts:ENST00000409074, ENST00000440963, ENST00000458117, ENST00000473127, ENST00000474271, ENST00000476323, ENST00000477116, ENST00000489117, ENST00000492189, ENST00000495778, ENST00000497901, ENST00000555660, ENST00000556253, ENST00000557079
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
597255577GWAS1351651_Hbipolar disorder QTL GWAS1351651 (human)1e-10bipolar disorder14103584020103584021Human
597217306GWAS1313380_Hschizophrenia QTL GWAS1313380 (human)4e-13schizophrenia14103580497103580498Human
597416184GWAS1512258_Hdepressive symptom measurement QTL GWAS1512258 (human)1e-12depressive symptom measurement14103563455103563456Human
597478463GWAS1574537_Hblood protein measurement QTL GWAS1574537 (human)1e-18blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)14103589949103589950Human
597096562GWAS1192636_Hbipolar disorder QTL GWAS1192636 (human)2e-11bipolar disorder14103580497103580498Human
597467096GWAS1563170_Hself reported educational attainment QTL GWAS1563170 (human)9e-09self reported educational attainment14103588088103588089Human
597101650GWAS1197724_Hschizophrenia, intelligence, self reported educational attainment QTL GWAS1197724 (human)2e-13schizophrenia, intelligence, self reported educational attainment14103585720103585721Human
597213301GWAS1309375_Hschizophrenia QTL GWAS1309375 (human)1e-12schizophrenia14103580497103580498Human
597252567GWAS1348641_Hschizophrenia QTL GWAS1348641 (human)6e-14schizophrenia14103584020103584021Human
597027386GWAS1123460_Hschizophrenia QTL GWAS1123460 (human)2e-13schizophrenia14103580497103580498Human
597474221GWAS1570295_Hblood protein measurement QTL GWAS1570295 (human)7e-12blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)14103589949103589950Human
407125009GWAS773985_Hschizophrenia QTL GWAS773985 (human)1e-13schizophrenia14103580497103580498Human
597024192GWAS1120266_Hbreast carcinoma QTL GWAS1120266 (human)0.000008mammary gland integrity trait (VT:0010552)14103585479103585480Human
597068876GWAS1164950_Hautism spectrum disorder, schizophrenia QTL GWAS1164950 (human)2e-12autism spectrum disorder, schizophrenia14103580497103580498Human
597479367GWAS1575441_Hself reported educational attainment QTL GWAS1575441 (human)3e-13self reported educational attainment14103588088103588089Human
597483911GWAS1579985_Hself reported educational attainment QTL GWAS1579985 (human)4e-12self reported educational attainment14103588088103588089Human
597475271GWAS1571345_Hblood protein measurement QTL GWAS1571345 (human)6e-20blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)14103589949103589950Human
597098539GWAS1194613_Hschizophrenia QTL GWAS1194613 (human)6e-14schizophrenia14103580497103580498Human
597430370GWAS1526444_Hwellbeing measurement QTL GWAS1526444 (human)6e-09wellness/fitness trait (VT:1000152)14103563455103563456Human

Markers in Region
RH41848  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714104,056,654 - 104,056,834UniSTSGRCh37
Build 3614103,126,407 - 103,126,587RGDNCBI36
Celera1484,110,895 - 84,111,075RGD
Cytogenetic Map14q32.33UniSTS
HuRef1484,235,181 - 84,235,361UniSTS
GeneMap99-GB4 RH Map14277.83UniSTS
NCBI RH Map141119.3UniSTS
G36164  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714104,033,150 - 104,033,239UniSTSGRCh37
Build 3614103,102,903 - 103,102,992RGDNCBI36
Celera1484,087,394 - 84,087,483RGD
Cytogenetic Map14q32.33UniSTS
HuRef1484,211,528 - 84,211,617UniSTS
RH94158  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714104,040,915 - 104,041,068UniSTSGRCh37
Build 3614103,110,668 - 103,110,821RGDNCBI36
Celera1484,095,156 - 84,095,309RGD
Cytogenetic Map14q32.33UniSTS
HuRef1484,219,284 - 84,219,437UniSTS
GeneMap99-GB4 RH Map14277.83UniSTS
G35465  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714104,032,882 - 104,032,983UniSTSGRCh37
Build 3614103,102,635 - 103,102,736RGDNCBI36
Celera1484,087,126 - 84,087,227RGD
Cytogenetic Map14q32.33UniSTS
HuRef1484,211,260 - 84,211,361UniSTS
RH48201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714104,045,439 - 104,045,569UniSTSGRCh37
Build 3614103,115,192 - 103,115,322RGDNCBI36
Celera1484,099,680 - 84,099,810RGD
Cytogenetic Map14q32.33UniSTS
HuRef1484,223,984 - 84,224,114UniSTS
GeneMap99-GB4 RH Map14277.83UniSTS
G35514  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714104,043,205 - 104,043,321UniSTSGRCh37
Build 3614103,112,958 - 103,113,074RGDNCBI36
Celera1484,097,446 - 84,097,562RGD
Cytogenetic Map14q32.33UniSTS
HuRef1484,221,750 - 84,221,866UniSTS
RH69467  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714104,056,646 - 104,056,854UniSTSGRCh37
Build 3614103,126,399 - 103,126,607RGDNCBI36
Celera1484,110,887 - 84,111,095RGD
Cytogenetic Map14q32.33UniSTS
HuRef1484,235,173 - 84,235,381UniSTS
GeneMap99-GB4 RH Map14277.83UniSTS
NCBI RH Map141117.3UniSTS
G36166  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714104,049,964 - 104,050,077UniSTSGRCh37
Build 3614103,119,717 - 103,119,830RGDNCBI36
Celera1484,104,204 - 84,104,317RGD
Cytogenetic Map14q32.33UniSTS
HuRef1484,228,505 - 84,228,618UniSTS
GDB:434012  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q31.2-q33.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p21.3-p13.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map10p11.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map14q31UniSTS
L18441  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q31UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map10q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map15q24-q25UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16q24UniSTS
L17971  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic MapXq22UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map20p11.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map9q34.13UniSTS
G35510  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6pter-q22.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map11q14.2-q21UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31-q32UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map5q34-q35UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic MapXp22.32UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map20q13.33UniSTS
D3S1673  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic MapXp22.2UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS


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 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_041786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001302652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001302653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001302654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_126431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_126432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK223092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF528062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP204024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP317962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP368962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU181154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU956674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX119699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX340258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA443899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB136383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB993873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY134136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000409074   ⟹   ENSP00000386485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,562,960 - 103,590,896 (+)Ensembl
Ensembl Acc Id: ENST00000440963   ⟹   ENSP00000388067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,562,965 - 103,590,504 (+)Ensembl
Ensembl Acc Id: ENST00000458117   ⟹   ENSP00000408525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,562,979 - 103,590,527 (+)Ensembl
Ensembl Acc Id: ENST00000473127   ⟹   ENSP00000489380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,563,190 - 103,590,440 (+)Ensembl
Ensembl Acc Id: ENST00000474271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,571,756 - 103,607,523 (+)Ensembl
Ensembl Acc Id: ENST00000476323   ⟹   ENSP00000489047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,563,307 - 103,590,525 (+)Ensembl
Ensembl Acc Id: ENST00000477116   ⟹   ENSP00000489152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,563,173 - 103,590,526 (+)Ensembl
Ensembl Acc Id: ENST00000489117   ⟹   ENSP00000451788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,563,053 - 103,590,360 (+)Ensembl
Ensembl Acc Id: ENST00000492189   ⟹   ENSP00000489557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,563,171 - 103,590,389 (+)Ensembl
Ensembl Acc Id: ENST00000495778   ⟹   ENSP00000451703
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,563,077 - 103,574,732 (+)Ensembl
Ensembl Acc Id: ENST00000497901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,563,291 - 103,574,732 (+)Ensembl
Ensembl Acc Id: ENST00000554625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,562,982 - 103,574,212 (+)Ensembl
Ensembl Acc Id: ENST00000554876   ⟹   ENSP00000489308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,571,668 - 103,587,364 (+)Ensembl
Ensembl Acc Id: ENST00000555660   ⟹   ENSP00000450756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,571,754 - 103,590,234 (+)Ensembl
Ensembl Acc Id: ENST00000556253   ⟹   ENSP00000451874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,562,987 - 103,590,384 (+)Ensembl
Ensembl Acc Id: ENST00000557079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,588,002 - 103,590,620 (+)Ensembl
Ensembl Acc Id: ENST00000674165   ⟹   ENSP00000501341
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,562,963 - 103,592,171 (+)Ensembl
RefSeq Acc Id: NM_001302652   ⟹   NP_001289581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814103,562,960 - 103,590,899 (+)NCBI
CHM1_114103,967,488 - 103,995,428 (+)NCBI
T2T-CHM13v2.01497,799,005 - 97,826,938 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001302653   ⟹   NP_001289582
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814103,562,960 - 103,590,899 (+)NCBI
CHM1_114103,967,488 - 103,995,428 (+)NCBI
T2T-CHM13v2.01497,799,005 - 97,826,938 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001302654   ⟹   NP_001289583
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814103,562,960 - 103,574,732 (+)NCBI
CHM1_114103,967,488 - 103,979,260 (+)NCBI
T2T-CHM13v2.01497,799,005 - 97,810,767 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001370595   ⟹   NP_001357524
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814103,562,960 - 103,590,896 (+)NCBI
T2T-CHM13v2.01497,799,005 - 97,826,935 (+)NCBI
Sequence:
RefSeq Acc Id: NR_126431
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814103,562,960 - 103,590,899 (+)NCBI
CHM1_114103,967,488 - 103,995,428 (+)NCBI
T2T-CHM13v2.01497,799,005 - 97,826,938 (+)NCBI
Sequence:
RefSeq Acc Id: NR_126432
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814103,562,960 - 103,590,899 (+)NCBI
CHM1_114103,967,488 - 103,995,428 (+)NCBI
T2T-CHM13v2.01497,799,005 - 97,826,938 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001289582   ⟸   NM_001302653
- Peptide Label: isoform 3
- UniProtKB: G3V4L6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001289581   ⟸   NM_001302652
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001289583   ⟸   NM_001302654
- Peptide Label: isoform 4
- UniProtKB: H0YJK3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001357524   ⟸   NM_001370595
- Peptide Label: isoform 1
- UniProtKB: Q96IL0 (UniProtKB/Swiss-Prot),   Q53G28 (UniProtKB/Swiss-Prot),   H7C2Z1 (UniProtKB/Swiss-Prot),   A0A6Q8JUI0 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000450756   ⟸   ENST00000555660
Ensembl Acc Id: ENSP00000489152   ⟸   ENST00000477116
Ensembl Acc Id: ENSP00000501341   ⟸   ENST00000674165
Ensembl Acc Id: ENSP00000451874   ⟸   ENST00000556253
Ensembl Acc Id: ENSP00000489557   ⟸   ENST00000492189
Ensembl Acc Id: ENSP00000388067   ⟸   ENST00000440963
Ensembl Acc Id: ENSP00000451703   ⟸   ENST00000495778
Ensembl Acc Id: ENSP00000408525   ⟸   ENST00000458117
Ensembl Acc Id: ENSP00000489380   ⟸   ENST00000473127
Ensembl Acc Id: ENSP00000386485   ⟸   ENST00000409074
Ensembl Acc Id: ENSP00000451788   ⟸   ENST00000489117
Ensembl Acc Id: ENSP00000489308   ⟸   ENST00000554876
Ensembl Acc Id: ENSP00000489047   ⟸   ENST00000476323

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96IL0-F1-model_v2 AlphaFold Q96IL0 1-206 view protein structure

Promoters
RGD ID:6791298
Promoter ID:HG_KWN:20327
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000409074,   NM_001015048,   NM_001015049,   NM_004873,   OTTHUMT00000333062,   OTTHUMT00000333063,   OTTHUMT00000333064,   OTTHUMT00000333065,   OTTHUMT00000333066,   OTTHUMT00000333067,   OTTHUMT00000333068,   OTTHUMT00000333069,   OTTHUMT00000333071,   UC001YNL.2
Position:
Human AssemblyChrPosition (strand)Source
Build 3614103,098,056 - 103,099,232 (-)MPROMDB
RGD ID:7228721
Promoter ID:EPDNEW_H20106
Type:initiation region
Name:APOPT1_1
Description:apoptogenic 1, mitochondrial
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20107  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814103,562,965 - 103,563,025EPDNEW
RGD ID:7228723
Promoter ID:EPDNEW_H20107
Type:initiation region
Name:APOPT1_2
Description:apoptogenic 1, mitochondrial
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20106  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814103,563,194 - 103,563,254EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20492 AgrOrtholog
COSMIC COA8 COSMIC
Ensembl Genes ENSG00000256053 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000409074 ENTREZGENE
  ENST00000495778 ENTREZGENE
  ENST00000556253 ENTREZGENE
  ENST00000674165.1 UniProtKB/Swiss-Prot
GTEx ENSG00000256053 GTEx
HGNC ID HGNC:20492 ENTREZGENE
Human Proteome Map COA8 Human Proteome Map
InterPro APOPT UniProtKB/Swiss-Prot
KEGG Report hsa:84334 UniProtKB/Swiss-Prot
NCBI Gene 84334 ENTREZGENE
OMIM 616003 OMIM
PANTHER CYTOCHROME C OXIDASE ASSEMBLY FACTOR 8 UniProtKB/Swiss-Prot
  PTHR31107 UniProtKB/Swiss-Prot
Pfam DUF2315 UniProtKB/Swiss-Prot
PharmGKB PA134961925 PharmGKB
UniProt A0A0U1RQK3_HUMAN UniProtKB/TrEMBL
  A0A0U1RQS9_HUMAN UniProtKB/TrEMBL
  A0A0U1RR29_HUMAN UniProtKB/TrEMBL
  A0A5H1ZRQ9_HUMAN UniProtKB/TrEMBL
  A0A6Q8JUI0 ENTREZGENE, UniProtKB/TrEMBL
  APOP1_HUMAN UniProtKB/Swiss-Prot
  G3V4L6 ENTREZGENE, UniProtKB/TrEMBL
  H0YJ38_HUMAN UniProtKB/TrEMBL
  H0YJK3 ENTREZGENE, UniProtKB/TrEMBL
  H0YJM4_HUMAN UniProtKB/TrEMBL
  H7BZ67_HUMAN UniProtKB/TrEMBL
  H7C2Z1 ENTREZGENE
  Q53G28 ENTREZGENE
  Q96IL0 ENTREZGENE
UniProt Secondary H7C2Z1 UniProtKB/Swiss-Prot
  Q53G28 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-04-16 COA8  cytochrome c oxidase assembly factor 8  APOPT1  apoptogenic 1, mitochondrial  Symbol and/or name change 5135510 APPROVED
2012-07-05 APOPT1  apoptogenic 1, mitochondrial  APOPT1  apoptogenic 1  Symbol and/or name change 5135510 APPROVED
2011-09-13 APOPT1  apoptogenic 1  C14orf153  chromosome 14 open reading frame 153  Symbol and/or name change 5135510 APPROVED