TAP1 (transporter 1, ATP binding cassette subfamily B member) - Rat Genome Database

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Gene: TAP1 (transporter 1, ATP binding cassette subfamily B member) Homo sapiens
Analyze
Symbol: TAP1
Name: transporter 1, ATP binding cassette subfamily B member
RGD ID: 736475
HGNC Page HGNC
Description: Exhibits several functions, including ABC-type peptide antigen transporter activity; TAP2 binding activity; and adenyl ribonucleotide binding activity. Is predicted to contribute to MHC class I protein binding activity. Involved in antigen processing and presentation of endogenous peptide antigen via MHC class I; cytosol to endoplasmic reticulum transport; and peptide transport. Localizes to TAP complex and centriolar satellite. Implicated in several diseases, including MHC class I deficiency; autoimmune disease (multiple); bronchial disease (multiple); diffuse scleroderma; and lung disease (multiple). Biomarker of esophagus squamous cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ABC transporter, MHC 1; ABC17; ABCB2; antigen peptide transporter 1; APT1; ATP-binding cassette sub-family B member 2; ATP-binding cassette, sub-family B (MDR/TAP), member 2; D6S114E; FLJ26666; FLJ41500; peptide supply factor 1; peptide transporter involved in antigen processing 1; peptide transporter PSF1; peptide transporter TAP1; PSF-1; PSF1; really interesting new gene 4 protein; RING4; TAP1*0102N; TAP1N; transporter 1 ATP-binding cassette sub-family B; transporter 1, ATP-binding cassette, sub-family B (MDR/TAP); transporter associated with antigen processing; transporter, ATP-binding cassette, major histocompatibility complex, 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl632,845,209 - 32,853,816 (-)EnsemblGRCh38hg38GRCh38
GRCh38632,845,209 - 32,853,704 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37632,812,986 - 32,821,481 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36632,920,964 - 32,929,726 (-)NCBINCBI36hg18NCBI36
Build 34632,920,964 - 32,929,726NCBI
Celera634,361,879 - 34,370,641 (-)NCBI
Cytogenetic Map6p21.32NCBI
HuRef632,555,192 - 32,563,954 (-)NCBIHuRef
CHM1_1632,813,813 - 32,822,573 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-[cyclohexyl(oxo)methyl]-3,6,7,11b-tetrahydro-1H-pyrazino[2,1-a]isoquinolin-4-one  (ISO)
2-nitrofluorene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-methylcholanthrene  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-hydroperoxycyclophosphamide  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrolein  (EXP)
actinomycin D  (EXP)
aflatoxin B1  (EXP,ISO)
Aflatoxin G1  (EXP)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (ISO)
cadmium dichloride  (ISO)
camptothecin  (EXP)
carbon nanotube  (ISO)
chloroform  (ISO)
chloroprene  (ISO)
chromium(6+)  (ISO)
chrysene  (ISO)
cisplatin  (EXP,ISO)
cyclophosphamide  (EXP)
cyclosporin A  (EXP)
daunorubicin  (EXP)
deoxynivalenol  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
dichlorvos  (ISO)
dieldrin  (EXP)
dimethylarsinous acid  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (ISO)
elemental selenium  (EXP)
entinostat  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
etoposide  (EXP)
flavonoids  (ISO)
formaldehyde  (EXP)
gentamycin  (ISO)
glycidol  (ISO)
haloperidol  (ISO)
hydrogen peroxide  (EXP)
hydroxyurea  (ISO)
mercury atom  (ISO)
mercury(0)  (ISO)
methapyrilene  (ISO)
methyl methanesulfonate  (EXP)
mitoxantrone  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-nitrosomorpholine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nickel atom  (EXP,ISO)
nickel sulfate  (EXP,ISO)
nimustine  (EXP)
ozone  (EXP)
paclitaxel  (EXP)
paracetamol  (EXP)
pentachlorophenol  (ISO)
pirinixic acid  (ISO)
quercetin  (EXP)
resveratrol  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP)
silver atom  (EXP,ISO)
silver(0)  (EXP,ISO)
sodium dichromate  (ISO)
Soman  (ISO)
succimer  (ISO)
tamibarotene  (EXP)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
titanium dioxide  (ISO)
Tributyltin oxide  (ISO)
trimellitic anhydride  (ISO)
Triptolide  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vincristine  (EXP)
vorinostat  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

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

Human Phenotype
References

References - curated
1. Aquino-Galvez A, etal., Exp Mol Pathol. 2008 Apr;84(2):173-7. Epub 2008 Feb 14.
2. Barron KS, etal., Arthritis Rheum. 1995 May;38(5):684-9.
3. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
4. Caillat-Zucman S, etal., C R Acad Sci III. 1992;315(13):535-9.
5. Deshpande A, etal., J Infect Dis. 2008 Feb 1;197(3):371-81.
6. Dogru D, etal., Pediatr Pulmonol. 2007 Mar;42(3):237-41.
7. Fellerhoff B and Wank R, Med Hypotheses. 2009 May;72(5):535-8. Epub 2009 Feb 12.
8. Feng M, etal., Hum Immunol. 2009 Apr;70(4):257-61. Epub 2009 Feb 4.
9. GOA_HUMAN data from the GO Consortium
10. Gostout BS, etal., Gynecol Oncol. 2003 Mar;88(3):326-32.
11. Hang LW, etal., J Clin Lab Anal. 2003;17(2):57-60.
12. Izakovicova Holla L, etal., Clin Exp Allergy. 2001 Sep;31(9):1418-23.
13. Kim KR, etal., J Korean Med Sci. 2007 Oct;22(5):825-31.
14. Lin HJ, etal., Mol Diagn. 2004;8(4):245-52.
15. Liu Q, etal., Scand J Gastroenterol. 2009;44(8):960-9.
16. Ma L, etal., Hum Immunol. 1997 Apr 1;53(2):159-66.
17. OMIM Disease Annotation Pipeline
18. Pipeline to import KEGG annotations from KEGG into RGD
19. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
20. RGD automated import pipeline for gene-chemical interactions
21. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
22. Song YW, etal., Hum Immunol. 2005 Jul;66(7):810-7.
23. Sunder SR, etal., Hum Immunol. 2011 Oct;72(10):908-11. Epub 2011 Jul 31.
24. Takeuchi F, etal., Ann Rheum Dis. 1996 Dec;55(12):924-6.
25. Takeuchi K, etal., Ann Otol Rhinol Laryngol. 2002 May;111(5 Pt 1):460-3.
26. Vambutas A, etal., Clin Diagn Lab Immunol. 2000 Jan;7(1):79-85.
27. Vambutas A, etal., J Infect Dis. 2004 Mar 1;189(5):871-9. Epub 2004 Feb 16.
28. Vasku V, etal., Arch Dermatol Res. 2000 Nov;292(11):531-4.
29. Yan G, etal., J Immunol. 1997 Sep 15;159(6):3068-80.
30. Yan G, etal., Tissue Antigens. 1997 Dec;50(6):576-85.
Additional References at PubMed
PMID:1453454   PMID:1529427   PMID:1538751   PMID:1570316   PMID:1946428   PMID:2259383   PMID:2259384   PMID:2342577   PMID:7500034   PMID:7538543   PMID:7673167   PMID:8168860  
PMID:8248212   PMID:8453065   PMID:8458375   PMID:8568858   PMID:8640228   PMID:8670825   PMID:8805302   PMID:8955196   PMID:9103419   PMID:9175839   PMID:9310490   PMID:9545232  
PMID:9774463   PMID:10074494   PMID:10227971   PMID:10508608   PMID:10605026   PMID:11096258   PMID:11133832   PMID:11157746   PMID:11169396   PMID:11250043   PMID:11250044   PMID:11381133  
PMID:11532960   PMID:11737038   PMID:11774612   PMID:11775239   PMID:11788900   PMID:11823531   PMID:11884415   PMID:11960305   PMID:12026214   PMID:12047361   PMID:12047747   PMID:12213826  
PMID:12225333   PMID:12234057   PMID:12477932   PMID:12485523   PMID:12505156   PMID:12507827   PMID:12539042   PMID:12582163   PMID:12594855   PMID:12634240   PMID:12645939   PMID:12648225  
PMID:12648282   PMID:12682044   PMID:12687213   PMID:12729048   PMID:12777379   PMID:12777979   PMID:12786997   PMID:12827444   PMID:12857899   PMID:12878362   PMID:12911283   PMID:14551602  
PMID:14558951   PMID:14679198   PMID:14694183   PMID:14702039   PMID:14749980   PMID:15306733   PMID:15322097   PMID:15336779   PMID:15343265   PMID:15488952   PMID:15518576   PMID:15548263  
PMID:15577206   PMID:15686587   PMID:15711027   PMID:15778351   PMID:15793001   PMID:15897556   PMID:15905524   PMID:16061226   PMID:16174096   PMID:16189514   PMID:16191421   PMID:16215317  
PMID:16216677   PMID:16356928   PMID:16407277   PMID:16604487   PMID:16634865   PMID:16640035   PMID:16691491   PMID:16731921   PMID:16828748   PMID:16864587   PMID:16923719   PMID:16956670  
PMID:17055437   PMID:17068338   PMID:17164240   PMID:17382375   PMID:17418234   PMID:17491658   PMID:17498556   PMID:17525827   PMID:17581627   PMID:17649665   PMID:17703412   PMID:17875943  
PMID:17917315   PMID:17940597   PMID:17947644   PMID:18071882   PMID:18191725   PMID:18199642   PMID:18380807   PMID:18385764   PMID:18433405   PMID:18694960   PMID:18764808   PMID:18802093  
PMID:19148137   PMID:19165146   PMID:19188174   PMID:19201886   PMID:19202550   PMID:19247692   PMID:19258923   PMID:19263211   PMID:19297616   PMID:19343046   PMID:19387463   PMID:19404951  
PMID:19439551   PMID:19549407   PMID:19609238   PMID:19808685   PMID:19851445   PMID:19913121   PMID:19946888   PMID:19953286   PMID:20134267   PMID:20141545   PMID:20193774   PMID:20204276  
PMID:20230813   PMID:20450707   PMID:20452482   PMID:20470844   PMID:20503287   PMID:20525414   PMID:20628086   PMID:20673868   PMID:20820776   PMID:20877624   PMID:21098634   PMID:21205905  
PMID:21207025   PMID:21362330   PMID:21399633   PMID:21516116   PMID:21796142   PMID:21873635   PMID:21914809   PMID:21988832   PMID:22002058   PMID:22025554   PMID:22031944   PMID:22065046  
PMID:22298786   PMID:22638925   PMID:22684063   PMID:22810586   PMID:22932452   PMID:22939629   PMID:22989262   PMID:23272491   PMID:23302073   PMID:23340176   PMID:23395648   PMID:23682387  
PMID:23799215   PMID:23834030   PMID:24175803   PMID:24196954   PMID:24247241   PMID:24288424   PMID:24501197   PMID:24623722   PMID:24655325   PMID:24711643   PMID:24803408   PMID:24923865  
PMID:25198552   PMID:25377891   PMID:25398693   PMID:25403418   PMID:25548428   PMID:25656091   PMID:25846714   PMID:26496610   PMID:26638075   PMID:26735690   PMID:26782532   PMID:26789246  
PMID:26871637   PMID:26996113   PMID:27068360   PMID:27098790   PMID:27935481   PMID:28289864   PMID:28298427   PMID:28356387   PMID:28405734   PMID:28514442   PMID:28542489   PMID:28692057  
PMID:28700671   PMID:28813667   PMID:29091951   PMID:29128334   PMID:29180619   PMID:29507755   PMID:29879547   PMID:29931158   PMID:30082158   PMID:30833792   PMID:31091453   PMID:31678930  
PMID:32108992   PMID:32296183   PMID:32748110   PMID:32867395   PMID:33736739  


Genomics

Comparative Map Data
TAP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl632,845,209 - 32,853,816 (-)EnsemblGRCh38hg38GRCh38
GRCh38632,845,209 - 32,853,704 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37632,812,986 - 32,821,481 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36632,920,964 - 32,929,726 (-)NCBINCBI36hg18NCBI36
Build 34632,920,964 - 32,929,726NCBI
Celera634,361,879 - 34,370,641 (-)NCBI
Cytogenetic Map6p21.32NCBI
HuRef632,555,192 - 32,563,954 (-)NCBIHuRef
CHM1_1632,813,813 - 32,822,573 (-)NCBICHM1_1
Tap1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391734,406,530 - 34,416,199 (+)NCBIGRCm39mm39
GRCm39 Ensembl1734,406,527 - 34,416,199 (+)Ensembl
GRCm381734,187,556 - 34,197,225 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1734,187,553 - 34,197,225 (+)EnsemblGRCm38mm10GRCm38
MGSCv371734,324,501 - 34,334,170 (+)NCBIGRCm37mm9NCBIm37
MGSCv361733,798,168 - 33,807,011 (+)NCBImm8
Celera1736,941,149 - 36,950,813 (+)NCBICelera
Cytogenetic Map17B1NCBI
cM Map1717.98NCBI
Tap1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2204,656,262 - 4,666,634 (-)NCBI
Rnor_6.0 Ensembl203,979,035 - 3,989,669 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0203,979,302 - 3,989,669 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0206,058,850 - 6,069,217 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4204,790,363 - 4,800,730 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1204,791,029 - 4,800,898 (-)NCBI
Celera206,257,317 - 6,267,656 (-)NCBICelera
RH 3.4 Map2060.6RGD
Cytogenetic Map20p12NCBI
Tap1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554371,504,947 - 1,511,097 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554371,504,549 - 1,511,110 (-)NCBIChiLan1.0ChiLan1.0
TAP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1633,530,170 - 33,538,978 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl633,530,171 - 33,538,978 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0632,414,665 - 32,423,488 (-)NCBIMhudiblu_PPA_v0panPan3
TAP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1122,424,049 - 2,432,165 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl122,378,126 - 2,432,303 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha122,505,714 - 2,513,929 (-)NCBI
ROS_Cfam_1.0122,705,692 - 2,714,297 (-)NCBI
UMICH_Zoey_3.1122,423,131 - 2,431,320 (-)NCBI
UNSW_CanFamBas_1.0122,504,597 - 2,512,789 (-)NCBI
UU_Cfam_GSD_1.0122,578,932 - 2,587,126 (-)NCBI
Tap1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494638,052,572 - 38,060,923 (-)NCBI
SpeTri2.0NW_00493647625,899,514 - 25,907,690 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TAP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl725,062,773 - 25,071,862 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1725,062,772 - 25,071,989 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2729,274,670 - 29,283,290 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TAP1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11739,252,000 - 39,260,195 (+)NCBI
Vero_WHO_p1.0NW_02366604432,632,142 - 32,640,337 (-)NCBI
Tap1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475423,815,464 - 23,822,480 (+)NCBI

Position Markers
RH70842  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37632,813,021 - 32,813,220UniSTSGRCh37
Build 36632,920,999 - 32,921,198RGDNCBI36
Celera634,361,914 - 34,362,113RGD
Cytogenetic Map6p21.3UniSTS
HuRef632,555,227 - 32,555,426UniSTS
GeneMap99-GB4 RH Map6120.03UniSTS
NCBI RH Map6509.1UniSTS
GDB:250900  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37632,819,639 - 32,819,828UniSTSGRCh37
Build 36632,927,617 - 32,927,806RGDNCBI36
Celera634,368,532 - 34,368,721RGD
Cytogenetic Map6p21.3UniSTS
HuRef632,561,845 - 32,562,034UniSTS
RH46725  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37632,813,019 - 32,813,155UniSTSGRCh37
Build 36632,920,997 - 32,921,133RGDNCBI36
Celera634,361,912 - 34,362,048RGD
Cytogenetic Map6p21.3UniSTS
HuRef632,555,225 - 32,555,361UniSTS
GeneMap99-GB4 RH Map6119.43UniSTS
NCBI RH Map6509.1UniSTS
BARC0051  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37632,815,705 - 32,816,487UniSTSGRCh37
Build 36632,923,683 - 32,924,465RGDNCBI36
Celera634,364,598 - 34,365,380RGD
HuRef632,557,911 - 32,558,693UniSTS
PMC115886P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37632,820,893 - 32,821,180UniSTSGRCh37
Build 36632,928,871 - 32,929,158RGDNCBI36
Celera634,369,786 - 34,370,073RGD
Cytogenetic Map6p21.3UniSTS
HuRef632,563,099 - 32,563,386UniSTS
D6S2042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37632,813,098 - 32,813,333UniSTSGRCh37
Build 36632,921,076 - 32,921,311RGDNCBI36
Celera634,361,991 - 34,362,226RGD
Cytogenetic Map6p21.3UniSTS
HuRef632,555,304 - 32,555,539UniSTS
D6S2820  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37632,817,465 - 32,817,660UniSTSGRCh37
GRCh37246,177,755 - 46,179,053UniSTSGRCh37
Build 36632,925,443 - 32,925,638RGDNCBI36
Celera246,016,173 - 46,017,471UniSTS
Celera634,366,358 - 34,366,553RGD
Cytogenetic Map6p21.3UniSTS
HuRef632,559,671 - 32,559,866UniSTS
HuRef245,915,883 - 45,917,181UniSTS
D6S2874  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37632,819,639 - 32,819,828UniSTSGRCh37
GRCh37632,819,639 - 32,819,859UniSTSGRCh37
GRCh37632,819,639 - 32,819,897UniSTSGRCh37
Build 36632,927,617 - 32,927,837RGDNCBI36
Celera634,368,532 - 34,368,790UniSTS
Celera634,368,532 - 34,368,721UniSTS
Celera634,368,532 - 34,368,752RGD
HuRef632,561,845 - 32,562,034UniSTS
HuRef632,561,845 - 32,562,065UniSTS
HuRef632,561,845 - 32,562,103UniSTS
RH69680  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37632,813,021 - 32,813,150UniSTSGRCh37
Build 36632,920,999 - 32,921,128RGDNCBI36
Celera634,361,914 - 34,362,043RGD
Cytogenetic Map6p21.3UniSTS
HuRef632,555,227 - 32,555,356UniSTS
GeneMap99-GB4 RH Map6120.03UniSTS
NCBI RH Map6509.1UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS
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
GDB:362795  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p21.3UniSTS
GDB:365643  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p21.3UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR346hsa-miR-346Mirtarbaseexternal_infoImmunocytochemistry//In situ hybridization//qRT-PCFunctional MTI22002058

Predicted Target Of
Summary Value
Count of predictions:973
Count of miRNA genes:536
Interacting mature miRNAs:602
Transcripts:ENST00000354258, ENST00000425148, ENST00000486332, ENST00000487296
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 1 1 1
Medium 2417 2715 1574 483 1925 333 3947 1687 2363 357 1394 1556 163 1204 2451 3
Low 15 268 148 138 21 130 408 506 1322 60 52 39 8 337 1
Below cutoff 1 1 1 1 1 23 1 5 12 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001292022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB012644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB012645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF492485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL669918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL671681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL935043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY349134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY523970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY523971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX088556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX927138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR753889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR762476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR933844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC354917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ657694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ657695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ657696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ657697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY497370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY497371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY497372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY497373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY497374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY497375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY497376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY497377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY497378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY497379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY497380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY497381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY497382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY497383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY497384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY497385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY497386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY497387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY497388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY497389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY497390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY497391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY497392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY497393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY497394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY497395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY497396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L21204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L21205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L21206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L21207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L21208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S70266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U07197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U07198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U16763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X57521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X57522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X66401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X87344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000354258   ⟹   ENSP00000346206
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl632,845,209 - 32,853,978 (-)Ensembl
RefSeq Acc Id: ENST00000486332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl632,845,209 - 32,850,142 (-)Ensembl
RefSeq Acc Id: ENST00000487296
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl632,845,675 - 32,848,230 (-)Ensembl
RefSeq Acc Id: ENST00000643049   ⟹   ENSP00000494148
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl632,845,232 - 32,853,816 (-)Ensembl
RefSeq Acc Id: ENST00000643923
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl632,845,270 - 32,853,014 (-)Ensembl
RefSeq Acc Id: ENST00000645078
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl632,845,251 - 32,852,787 (-)Ensembl
RefSeq Acc Id: NM_000593   ⟹   NP_000584
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38632,845,209 - 32,853,704 (-)NCBI
GRCh37632,812,986 - 32,821,748 (-)ENTREZGENE
GRCh37632,812,986 - 32,821,748 (-)NCBI
Build 36632,920,964 - 32,929,726 (-)NCBI Archive
HuRef632,555,192 - 32,563,954 (-)ENTREZGENE
CHM1_1632,813,813 - 32,822,573 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001292022   ⟹   NP_001278951
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38632,845,209 - 32,852,761 (-)NCBI
CHM1_1632,813,813 - 32,821,389 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000584 (Get FASTA)   NCBI Sequence Viewer  
  NP_001278951 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA89080 (Get FASTA)   NCBI Sequence Viewer  
  AAB60321 (Get FASTA)   NCBI Sequence Viewer  
  AAB60322 (Get FASTA)   NCBI Sequence Viewer  
  AAC12902 (Get FASTA)   NCBI Sequence Viewer  
  AAC12903 (Get FASTA)   NCBI Sequence Viewer  
  AAC12904 (Get FASTA)   NCBI Sequence Viewer  
  AAC12905 (Get FASTA)   NCBI Sequence Viewer  
  AAC12906 (Get FASTA)   NCBI Sequence Viewer  
  AAD14055 (Get FASTA)   NCBI Sequence Viewer  
  AAD14056 (Get FASTA)   NCBI Sequence Viewer  
  AAH14081 (Get FASTA)   NCBI Sequence Viewer  
  AAM11658 (Get FASTA)   NCBI Sequence Viewer  
  AAR05812 (Get FASTA)   NCBI Sequence Viewer  
  AAS55411 (Get FASTA)   NCBI Sequence Viewer  
  AAS55412 (Get FASTA)   NCBI Sequence Viewer  
  AHW47926 (Get FASTA)   NCBI Sequence Viewer  
  AHW47943 (Get FASTA)   NCBI Sequence Viewer  
  AHW47960 (Get FASTA)   NCBI Sequence Viewer  
  AHW47977 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33804 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33805 (Get FASTA)   NCBI Sequence Viewer  
  ARB08460 (Get FASTA)   NCBI Sequence Viewer  
  ARB08461 (Get FASTA)   NCBI Sequence Viewer  
  ARB08462 (Get FASTA)   NCBI Sequence Viewer  
  ARB08463 (Get FASTA)   NCBI Sequence Viewer  
  ARB08464 (Get FASTA)   NCBI Sequence Viewer  
  ARB08465 (Get FASTA)   NCBI Sequence Viewer  
  ARB08466 (Get FASTA)   NCBI Sequence Viewer  
  ARB08467 (Get FASTA)   NCBI Sequence Viewer  
  ARB08468 (Get FASTA)   NCBI Sequence Viewer  
  ARB08469 (Get FASTA)   NCBI Sequence Viewer  
  ARB08470 (Get FASTA)   NCBI Sequence Viewer  
  ARB08471 (Get FASTA)   NCBI Sequence Viewer  
  ARB08472 (Get FASTA)   NCBI Sequence Viewer  
  ARB08473 (Get FASTA)   NCBI Sequence Viewer  
  ARB08474 (Get FASTA)   NCBI Sequence Viewer  
  ARB08475 (Get FASTA)   NCBI Sequence Viewer  
  ARB08476 (Get FASTA)   NCBI Sequence Viewer  
  ARB08477 (Get FASTA)   NCBI Sequence Viewer  
  ARB08478 (Get FASTA)   NCBI Sequence Viewer  
  ARB08479 (Get FASTA)   NCBI Sequence Viewer  
  ARB08480 (Get FASTA)   NCBI Sequence Viewer  
  ARB08481 (Get FASTA)   NCBI Sequence Viewer  
  ARB08482 (Get FASTA)   NCBI Sequence Viewer  
  ARB08483 (Get FASTA)   NCBI Sequence Viewer  
  ARB08484 (Get FASTA)   NCBI Sequence Viewer  
  ARB08485 (Get FASTA)   NCBI Sequence Viewer  
  ARB08486 (Get FASTA)   NCBI Sequence Viewer  
  BAA32813 (Get FASTA)   NCBI Sequence Viewer  
  BAA32814 (Get FASTA)   NCBI Sequence Viewer  
  BAG36500 (Get FASTA)   NCBI Sequence Viewer  
  BAH13680 (Get FASTA)   NCBI Sequence Viewer  
  CAA40740 (Get FASTA)   NCBI Sequence Viewer  
  CAA40741 (Get FASTA)   NCBI Sequence Viewer  
  CAA47025 (Get FASTA)   NCBI Sequence Viewer  
  CAA60785 (Get FASTA)   NCBI Sequence Viewer  
  CCQ42989 (Get FASTA)   NCBI Sequence Viewer  
  EAX03646 (Get FASTA)   NCBI Sequence Viewer  
  EAX03647 (Get FASTA)   NCBI Sequence Viewer  
  EAX03648 (Get FASTA)   NCBI Sequence Viewer  
  EAX03649 (Get FASTA)   NCBI Sequence Viewer  
  EAX03650 (Get FASTA)   NCBI Sequence Viewer  
  EAX03651 (Get FASTA)   NCBI Sequence Viewer  
  EAX03652 (Get FASTA)   NCBI Sequence Viewer  
  Q03518 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000584   ⟸   NM_000593
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: NP_001278951   ⟸   NM_001292022
- Peptide Label: isoform 2
- UniProtKB: Q03518 (UniProtKB/Swiss-Prot),   B7Z7P4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000346206   ⟸   ENST00000354258
RefSeq Acc Id: ENSP00000494148   ⟸   ENST00000643049
Promoters
RGD ID:6872812
Promoter ID:EPDNEW_H9571
Type:initiation region
Name:TAP1_1
Description:transporter 1, ATP binding cassette subfamily B member
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38632,854,026 - 32,854,086EPDNEW
RGD ID:6804839
Promoter ID:HG_KWN:53131
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000276210,   OTTHUMT00000276211
Position:
Human AssemblyChrPosition (strand)Source
Build 36632,923,681 - 32,926,857 (-)MPROMDB
RGD ID:6804595
Promoter ID:HG_KWN:53132
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000354258,   ENST00000395333,   NM_002800,   OTTHUMT00000276495
Position:
Human AssemblyChrPosition (strand)Source
Build 36632,928,046 - 32,930,527 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000593.5(TAP1):c.2163G>A (p.Pro721=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000530510] Chr6:32847125 [GRCh38]
Chr6:32814902 [GRCh37]
Chr6:6p21.32
benign
NM_000593.5(TAP1):c.989G>A (p.Arg330His) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000549776] Chr6:32852144 [GRCh38]
Chr6:32819921 [GRCh37]
Chr6:6p21.32
uncertain significance
TAP1, IVS1, G-A, -1 single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000014735] Chr6:6p21.3 pathogenic
NM_000593.5(TAP1):c.2399T>C (p.Val800Ala) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000531023] Chr6:32845607 [GRCh38]
Chr6:32813384 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.1732G>A (p.Val578Ile) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000529187] Chr6:32848666 [GRCh38]
Chr6:32816443 [GRCh37]
Chr6:6p21.32
benign
NM_000593.5(TAP1):c.1177A>G (p.Ile393Val) single nucleotide variant PEPTIDE TRANSPORTER PSF1 POLYMORPHISM [RCV000014732]|not specified [RCV000455466] Chr6:32850997 [GRCh38]
Chr6:32818774 [GRCh37]
Chr6:6p21.32
benign
NM_000593.6(TAP1):c.1910A>G (p.Asp637Gly) single nucleotide variant PEPTIDE TRANSPORTER PSF1 POLYMORPHISM [RCV000014733]|not specified [RCV000454796] Chr6:32847198 [GRCh38]
Chr6:32814975 [GRCh37]
Chr6:6p21.32
benign
NM_000593.5(TAP1):c.2156G>A (p.Arg719Gln) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000554627]|TAP1 deficiency, somatic [RCV000014734] Chr6:32847132 [GRCh38]
Chr6:32814909 [GRCh37]
Chr6:6p21.32
pathogenic|likely benign|uncertain significance|other
NM_000593.5(TAP1):c.1942C>T (p.Pro648Ser) single nucleotide variant Malignant melanoma [RCV000061403] Chr6:32847654 [GRCh38]
Chr6:32815431 [GRCh37]
Chr6:32923409 [NCBI36]
Chr6:6p21.32
not provided
NM_004159.4(PSMB8):c.583delT (p.Ser195Profs) deletion Malignant melanoma [RCV000061402] Chr6:32841678 [GRCh38]
Chr6:32809455 [GRCh37]
Chr6:32917433 [NCBI36]
Chr6:6p21.32
not provided
NM_000593.6(TAP1):c.704C>G (p.Thr235Ser) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001302936] Chr6:32852397 [GRCh38]
Chr6:32820174 [GRCh37]
Chr6:6p21.32
uncertain significance
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3
pathogenic
NM_000593.5(TAP1):c.1300A>T (p.Met434Leu) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000548264] Chr6:32850448 [GRCh38]
Chr6:32818225 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.1313G>A (p.Arg438Gln) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000528112] Chr6:32850435 [GRCh38]
Chr6:32818212 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.1552G>T (p.Val518Leu) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000553045] Chr6:32848995 [GRCh38]
Chr6:32816772 [GRCh37]
Chr6:6p21.32
benign
NM_000593.5(TAP1):c.910G>T (p.Val304Leu) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000549584] Chr6:32852223 [GRCh38]
Chr6:32820000 [GRCh37]
Chr6:6p21.32
benign
NM_000593.5(TAP1):c.122C>T (p.Pro41Leu) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000527881] Chr6:32853695 [GRCh38]
Chr6:32821472 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.919G>A (p.Gly307Arg) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000557279] Chr6:32852214 [GRCh38]
Chr6:32819991 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.1289C>T (p.Ala430Val) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000540185] Chr6:32850459 [GRCh38]
Chr6:32818236 [GRCh37]
Chr6:6p21.32
benign
NM_000593.5(TAP1):c.603T>C (p.Val201=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000560445] Chr6:32853214 [GRCh38]
Chr6:32820991 [GRCh37]
Chr6:6p21.32
benign
NM_000593.5(TAP1):c.942C>T (p.Gly314=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000538001] Chr6:32852191 [GRCh38]
Chr6:32819968 [GRCh37]
Chr6:6p21.32
benign
NM_000593.5(TAP1):c.2123G>A (p.Arg708Gln) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000542023] Chr6:32847165 [GRCh38]
Chr6:32814942 [GRCh37]
Chr6:6p21.32
benign
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_000593.5(TAP1):c.147G>A (p.Arg49=) single nucleotide variant not specified [RCV000455919] Chr6:32853670 [GRCh38]
Chr6:32821447 [GRCh37]
Chr6:6p21.32
benign
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_000593.5(TAP1):c.572T>C (p.Leu191Pro) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000543357] Chr6:32853245 [GRCh38]
Chr6:32821022 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.5(TAP1):c.66G>C (p.Ser22=) single nucleotide variant not provided [RCV000642391] Chr6:32853751 [GRCh38]
Chr6:32821528 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.5(TAP1):c.229G>C (p.Gly77Arg) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000543125] Chr6:32853588 [GRCh38]
Chr6:32821365 [GRCh37]
Chr6:6p21.32
benign
NM_000593.5(TAP1):c.1727C>T (p.Pro576Leu) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001080411]|not provided [RCV000788877] Chr6:32848671 [GRCh38]
Chr6:32816448 [GRCh37]
Chr6:6p21.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000593.5(TAP1):c.1773C>T (p.Gly591=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000642370] Chr6:32848066 [GRCh38]
Chr6:32815843 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.5(TAP1):c.1435G>T (p.Gly479Cys) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000540700] Chr6:32849112 [GRCh38]
Chr6:32816889 [GRCh37]
Chr6:6p21.32
benign
NM_000593.5(TAP1):c.2362C>A (p.Gln788Lys) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000559379] Chr6:32845644 [GRCh38]
Chr6:32813421 [GRCh37]
Chr6:6p21.32
benign
NM_000593.5(TAP1):c.618G>A (p.Ala206=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000536948] Chr6:32853199 [GRCh38]
Chr6:32820976 [GRCh37]
Chr6:6p21.32
benign
NM_000593.5(TAP1):c.645C>T (p.His215=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000642375] Chr6:32853172 [GRCh38]
Chr6:32820949 [GRCh37]
Chr6:6p21.32
benign
NM_000593.5(TAP1):c.496_516dup (p.Ala166_Leu172dup) duplication Bare lymphocyte syndrome type 1 [RCV000642356] Chr6:32853300..32853301 [GRCh38]
Chr6:32821077..32821078 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.590C>G (p.Pro197Arg) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000642357] Chr6:32853227 [GRCh38]
Chr6:32821004 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.1335C>T (p.Gly445=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000642379] Chr6:32850413 [GRCh38]
Chr6:32818190 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.5(TAP1):c.1383C>G (p.Asn461Lys) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000642355] Chr6:32850365 [GRCh38]
Chr6:32818142 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.768C>G (p.Leu256=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000642368] Chr6:32853049 [GRCh38]
Chr6:32820826 [GRCh37]
Chr6:6p21.32
benign
NM_000593.5(TAP1):c.2256C>T (p.Tyr752=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000642381] Chr6:32845750 [GRCh38]
Chr6:32813527 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.5(TAP1):c.339A>G (p.Pro113=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000642387] Chr6:32853478 [GRCh38]
Chr6:32821255 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.5(TAP1):c.508C>G (p.Leu170Val) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000642390] Chr6:32853309 [GRCh38]
Chr6:32821086 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.5(TAP1):c.1157C>A (p.Ser386Tyr) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000642361] Chr6:32851017 [GRCh38]
Chr6:32818794 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.12T>G (p.Leu4=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000642372] Chr6:32853805 [GRCh38]
Chr6:32821582 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.5(TAP1):c.1037C>T (p.Ser346Phe) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000642373] Chr6:32851137 [GRCh38]
Chr6:32818914 [GRCh37]
Chr6:6p21.32
benign
NM_000593.5(TAP1):c.161G>A (p.Arg54Gln) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000642376] Chr6:32853656 [GRCh38]
Chr6:32821433 [GRCh37]
Chr6:6p21.32
benign
NM_000593.5(TAP1):c.1231-3C>T single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001080358]|not provided [RCV000762403] Chr6:32850520 [GRCh38]
Chr6:32818297 [GRCh37]
Chr6:6p21.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000593.5(TAP1):c.191C>T (p.Ser64Phe) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000686099] Chr6:32853626 [GRCh38]
Chr6:32821403 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.199C>T (p.Pro67Ser) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000706775] Chr6:32853618 [GRCh38]
Chr6:32821395 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.128G>C (p.Arg43Pro) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000690982] Chr6:32853689 [GRCh38]
Chr6:32821466 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.2137T>A (p.Leu713Met) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000702971] Chr6:32847151 [GRCh38]
Chr6:32814928 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.1903C>T (p.Arg635Cys) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000705580] Chr6:32847936 [GRCh38]
Chr6:32815713 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.1781C>T (p.Thr594Met) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000706198] Chr6:32848058 [GRCh38]
Chr6:32815835 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.2311C>G (p.His771Asp) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000689841] Chr6:32845695 [GRCh38]
Chr6:32813472 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.504G>A (p.Pro168=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000704435] Chr6:32853313 [GRCh38]
Chr6:32821090 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.869T>C (p.Leu290Pro) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000698412] Chr6:32852412 [GRCh38]
Chr6:32820189 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.295G>T (p.Ala99Ser) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000700205] Chr6:32853522 [GRCh38]
Chr6:32821299 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.1699G>A (p.Asp567Asn) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000703408] Chr6:32848699 [GRCh38]
Chr6:32816476 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.809G>A (p.Arg270His) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000706209] Chr6:32852472 [GRCh38]
Chr6:32820249 [GRCh37]
Chr6:6p21.32
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_000593.6(TAP1):c.1783C>G (p.Leu595Val) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001045011] Chr6:32847633 [GRCh38]
Chr6:32815410 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.2136G>A (p.Ala712=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000902616] Chr6:32847152 [GRCh38]
Chr6:32814929 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.6(TAP1):c.1594G>A (p.Glu532Lys) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001061084] Chr6:32848065 [GRCh38]
Chr6:32815842 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.175G>A (p.Ala59Thr) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001053289] Chr6:32853462 [GRCh38]
Chr6:32821239 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.1248T>C (p.Ser416=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001051171] Chr6:32850320 [GRCh38]
Chr6:32818097 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.1772T>C (p.Phe591Ser) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001057508] Chr6:32847644 [GRCh38]
Chr6:32815421 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.73C>T (p.Pro25Ser) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000793521] Chr6:32853744 [GRCh38]
Chr6:32821521 [GRCh37]
Chr6:6p21.32
uncertain significance
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1
pathogenic
NM_000593.5(TAP1):c.2107C>T (p.Leu703=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000884859] Chr6:32847181 [GRCh38]
Chr6:32814958 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.5(TAP1):c.1854C>T (p.Thr618=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000907057] Chr6:32847985 [GRCh38]
Chr6:32815762 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.5(TAP1):c.1641C>T (p.Arg547=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000895413] Chr6:32848757 [GRCh38]
Chr6:32816534 [GRCh37]
Chr6:6p21.32
benign
NM_000593.5(TAP1):c.1992C>T (p.Thr664=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001444923]|not provided [RCV000940751] Chr6:32847604 [GRCh38]
Chr6:32815381 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.5(TAP1):c.267T>C (p.Leu89=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000918394] Chr6:32853550 [GRCh38]
Chr6:32821327 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.5(TAP1):c.747G>A (p.Leu249=) single nucleotide variant not provided [RCV000943624] Chr6:32853070 [GRCh38]
Chr6:32820847 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.5(TAP1):c.1283T>C (p.Ile428Thr) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000887733] Chr6:32850465 [GRCh38]
Chr6:32818242 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.5(TAP1):c.617C>T (p.Ala206Val) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000950703] Chr6:32853200 [GRCh38]
Chr6:32820977 [GRCh37]
Chr6:6p21.32
benign
NM_000593.5(TAP1):c.588C>T (p.His196=) single nucleotide variant not provided [RCV000978890] Chr6:32853229 [GRCh38]
Chr6:32821006 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.5(TAP1):c.366G>A (p.Leu122=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000939258] Chr6:32853451 [GRCh38]
Chr6:32821228 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.5(TAP1):c.2220+6G>A single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000793545] Chr6:32847062 [GRCh38]
Chr6:32814839 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.1151C>G (p.Ser384Ter) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000795496] Chr6:32851023 [GRCh38]
Chr6:32818800 [GRCh37]
Chr6:6p21.32
pathogenic
NM_000593.5(TAP1):c.184G>A (p.Ala62Thr) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000824186] Chr6:32853633 [GRCh38]
Chr6:32821410 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.1637C>T (p.Pro546Leu) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000802172] Chr6:32848761 [GRCh38]
Chr6:32816538 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.289C>T (p.Arg97Trp) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000810557] Chr6:32853528 [GRCh38]
Chr6:32821305 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.1534A>G (p.Met512Val) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000815965] Chr6:32849013 [GRCh38]
Chr6:32816790 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.2005A>G (p.Met669Val) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000798543] Chr6:32847591 [GRCh38]
Chr6:32815368 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.1558-4C>G single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000811939] Chr6:32848844 [GRCh38]
Chr6:32816621 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.959T>A (p.Met320Lys) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001065454] Chr6:32851035 [GRCh38]
Chr6:32818812 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.2252G>A (p.Arg751Gln) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001401943]|not provided [RCV000914350] Chr6:32845754 [GRCh38]
Chr6:32813531 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.5(TAP1):c.172C>A (p.Arg58=) single nucleotide variant not provided [RCV000939110] Chr6:32853645 [GRCh38]
Chr6:32821422 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.5(TAP1):c.99C>T (p.Leu33=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000918408] Chr6:32853718 [GRCh38]
Chr6:32821495 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.5(TAP1):c.637C>T (p.Leu213=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000893488] Chr6:32853180 [GRCh38]
Chr6:32820957 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.6(TAP1):c.1838C>T (p.Thr613Ile) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001046240] Chr6:32847578 [GRCh38]
Chr6:32815355 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.2140T>C (p.Phe714Leu) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001245849] Chr6:32845686 [GRCh38]
Chr6:32813463 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.2167G>T (p.Gly723Trp) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001226336] Chr6:32845659 [GRCh38]
Chr6:32813436 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.1722C>A (p.His574Gln) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001223413] Chr6:32847937 [GRCh38]
Chr6:32815714 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.935G>A (p.Arg312Gln) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001223637] Chr6:32851059 [GRCh38]
Chr6:32818836 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.1556T>C (p.Leu519Ser) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001043222] Chr6:32848662 [GRCh38]
Chr6:32816439 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.302C>T (p.Ala101Val) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001203830] Chr6:32853335 [GRCh38]
Chr6:32821112 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.739G>T (p.Gly247Trp) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001210543] Chr6:32852214 [GRCh38]
Chr6:32819991 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.5(TAP1):c.2148A>T (p.Ala716=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001423860]|not provided [RCV000939060] Chr6:32847140 [GRCh38]
Chr6:32814917 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.5(TAP1):c.870C>T (p.Leu290=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000917586] Chr6:32852411 [GRCh38]
Chr6:32820188 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.5(TAP1):c.664G>A (p.Val222Met) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000974747] Chr6:32853153 [GRCh38]
Chr6:32820930 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.5(TAP1):c.2334C>T (p.Gly778=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV000953055] Chr6:32845672 [GRCh38]
Chr6:32813449 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.6(TAP1):c.1070G>A (p.Arg357Gln) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001035363] Chr6:32850498 [GRCh38]
Chr6:32818275 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.406C>A (p.His136Asn) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001208220] Chr6:32853231 [GRCh38]
Chr6:32821008 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.854T>C (p.Met285Thr) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001227072] Chr6:32851140 [GRCh38]
Chr6:32818917 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.2155G>A (p.Ala719Thr) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001205491] Chr6:32845671 [GRCh38]
Chr6:32813448 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.471C>A (p.Leu157=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001233972] Chr6:32853166 [GRCh38]
Chr6:32820943 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.808C>T (p.Arg270Cys) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001225679] Chr6:32852145 [GRCh38]
Chr6:32819922 [GRCh37]
Chr6:6p21.32
uncertain significance
GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3 copy number gain not provided [RCV001005791] Chr6:31036397..34088832 [GRCh37]
Chr6:6p21.33-21.31
likely pathogenic
NM_000593.6(TAP1):c.326G>C (p.Gly109Ala) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001065673] Chr6:32853311 [GRCh38]
Chr6:32821088 [GRCh37]
Chr6:6p21.32
uncertain significance
NC_000006.12:g.32853783A>G single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001069882] Chr6:32853783 [GRCh38]
Chr6:32821560 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.1329C>A (p.Asn443Lys) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001212225] Chr6:32849038 [GRCh38]
Chr6:32816815 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.386G>A (p.Arg129Lys) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001217084] Chr6:32853251 [GRCh38]
Chr6:32821028 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.1564C>T (p.Gln522Ter) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001041667] Chr6:32848654 [GRCh38]
Chr6:32816431 [GRCh37]
Chr6:6p21.32
pathogenic
NM_000593.6(TAP1):c.1984T>C (p.Cys662Arg) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001212464] Chr6:32847124 [GRCh38]
Chr6:32814901 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.-46_-45delinsAT indel Bare lymphocyte syndrome type 1 [RCV001206266] Chr6:32853681..32853682 [GRCh38]
Chr6:32821458..32821459 [GRCh37]
Chr6:6p21.32
pathogenic
NM_000593.6(TAP1):c.-20G>C single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001041887] Chr6:32853656 [GRCh38]
Chr6:32821433 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.1132C>T (p.Arg378Ter) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001206562] Chr6:32850436 [GRCh38]
Chr6:32818213 [GRCh37]
Chr6:6p21.32
pathogenic
NM_000593.6(TAP1):c.1903+4C>A single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001216407] Chr6:32847509 [GRCh38]
Chr6:32815286 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.2072G>C (p.Arg691Pro) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001248553] Chr6:32845754 [GRCh38]
Chr6:32813531 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.1377+5G>C single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001213040] Chr6:32848985 [GRCh38]
Chr6:32816762 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.1713A>G (p.Gln571=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001235296] Chr6:32847946 [GRCh38]
Chr6:32815723 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.2144T>G (p.Leu715Arg) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001207180] Chr6:32845682 [GRCh38]
Chr6:32813459 [GRCh37]
Chr6:6p21.32
uncertain significance
NC_000006.12:g.32853785G>A single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001247082] Chr6:32853785 [GRCh38]
Chr6:32821562 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.1115C>T (p.Ser372Leu) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001063203] Chr6:32850453 [GRCh38]
Chr6:32818230 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.1036G>C (p.Gly346Arg) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001063854] Chr6:32850958 [GRCh38]
Chr6:32818735 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.1937G>C (p.Gly646Ala) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001304199] Chr6:32847171 [GRCh38]
Chr6:32814948 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.881C>T (p.Thr294Ile) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001306739] Chr6:32851113 [GRCh38]
Chr6:32818890 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.782A>C (p.Gln261Pro) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001302196] Chr6:32852171 [GRCh38]
Chr6:32819948 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.394C>A (p.His132Asn) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001299656] Chr6:32853243 [GRCh38]
Chr6:32821020 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.1586G>A (p.Arg529His) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001302320] Chr6:32848073 [GRCh38]
Chr6:32815850 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.1955C>T (p.Ala652Val) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001294650] Chr6:32847153 [GRCh38]
Chr6:32814930 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.2047C>A (p.Gln683Lys) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001326047] Chr6:32845779 [GRCh38]
Chr6:32813556 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.610A>G (p.Ile204Val) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001343496] Chr6:32852491 [GRCh38]
Chr6:32820268 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.1937G>T (p.Gly646Val) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001369732] Chr6:32847171 [GRCh38]
Chr6:32814948 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.1942C>T (p.Arg648Ter) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001330002] Chr6:32847166 [GRCh38]
Chr6:32814943 [GRCh37]
Chr6:6p21.32
pathogenic
NM_000593.6(TAP1):c.551C>T (p.Thr184Met) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001421567] Chr6:32853086 [GRCh38]
Chr6:32820863 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.6(TAP1):c.845-9A>G single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001344705] Chr6:32851158 [GRCh38]
Chr6:32818935 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.2062A>G (p.Ser688Gly) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001364788] Chr6:32845764 [GRCh38]
Chr6:32813541 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.1518A>G (p.Gln506=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001339763] Chr6:32848700 [GRCh38]
Chr6:32816477 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.746A>G (p.Tyr249Cys) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001369552] Chr6:32852207 [GRCh38]
Chr6:32819984 [GRCh37]
Chr6:6p21.32
uncertain significance
NC_000006.11:g.32821556G>A single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001342545] Chr6:32853779 [GRCh38]
Chr6:32821556 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.605T>G (p.Met202Arg) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001344140] Chr6:32852496 [GRCh38]
Chr6:32820273 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.1045T>C (p.Tyr349His) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001347417] Chr6:32850949 [GRCh38]
Chr6:32818726 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.310G>T (p.Gly104Cys) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001322630] Chr6:32853327 [GRCh38]
Chr6:32821104 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.1507G>T (p.Val503Phe) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001299373] Chr6:32848711 [GRCh38]
Chr6:32816488 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.805C>G (p.Leu269Val) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001371097] Chr6:32852148 [GRCh38]
Chr6:32819925 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.2084C>G (p.Ser695Ter) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001330003] Chr6:32845742 [GRCh38]
Chr6:32813519 [GRCh37]
Chr6:6p21.32
pathogenic
NM_000593.6(TAP1):c.1305C>T (p.Thr435=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001421570] Chr6:32849062 [GRCh38]
Chr6:32816839 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.6(TAP1):c.1964G>A (p.Arg655Gln) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001337524] Chr6:32847144 [GRCh38]
Chr6:32814921 [GRCh37]
Chr6:6p21.32
uncertain significance
NM_000593.6(TAP1):c.657C>T (p.Gly219=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001397796] Chr6:32852444 [GRCh38]
Chr6:32820221 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.6(TAP1):c.1689G>T (p.Leu563=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001444693] Chr6:32847970 [GRCh38]
Chr6:32815747 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.6(TAP1):c.1866_1879del (p.His622fs) deletion Bare lymphocyte syndrome type 1 [RCV001387585] Chr6:32847537..32847550 [GRCh38]
Chr6:32815314..32815327 [GRCh37]
Chr6:6p21.32
pathogenic
NM_000593.6(TAP1):c.1054C>T (p.Leu352=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001447630] Chr6:32850514 [GRCh38]
Chr6:32818291 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.6(TAP1):c.1021C>T (p.Leu341=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001442341] Chr6:32850973 [GRCh38]
Chr6:32818750 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.6(TAP1):c.363C>A (p.Ala121=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001408443] Chr6:32853274 [GRCh38]
Chr6:32821051 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.6(TAP1):c.639C>T (p.Asp213=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001408556] Chr6:32852462 [GRCh38]
Chr6:32820239 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.6(TAP1):c.1746T>C (p.Ala582=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001403863] Chr6:32847670 [GRCh38]
Chr6:32815447 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.6(TAP1):c.2041-13T>C single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001424154] Chr6:32845798 [GRCh38]
Chr6:32813575 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.6(TAP1):c.552G>C (p.Thr184=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001416169] Chr6:32853085 [GRCh38]
Chr6:32820862 [GRCh37]
Chr6:6p21.32
likely benign
NM_000593.6(TAP1):c.1593C>G (p.Gly531=) single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001398648] Chr6:32848066 [GRCh38]
Chr6:32815843 [GRCh37]
Chr6:6p21.32
likely benign
NC_000006.11:g.32821507A>G single nucleotide variant Bare lymphocyte syndrome type 1 [RCV001405085] Chr6:32853730 [GRCh38]
Chr6:32821507 [GRCh37]
Chr6:6p21.32
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:43 AgrOrtholog
COSMIC TAP1 COSMIC
Ensembl Genes ENSG00000168394 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000206297 UniProtKB/Swiss-Prot
  ENSG00000224212 UniProtKB/Swiss-Prot
  ENSG00000224748 UniProtKB/TrEMBL
  ENSG00000226173 UniProtKB/Swiss-Prot
  ENSG00000227816 UniProtKB/Swiss-Prot
  ENSG00000230705 UniProtKB/Swiss-Prot
  ENSG00000232367 UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000346206 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000372722 UniProtKB/Swiss-Prot
  ENSP00000401149 UniProtKB/Swiss-Prot
  ENSP00000402316 UniProtKB/Swiss-Prot
  ENSP00000405356 UniProtKB/Swiss-Prot
  ENSP00000412933 UniProtKB/TrEMBL
  ENSP00000413080 UniProtKB/Swiss-Prot
  ENSP00000415660 UniProtKB/Swiss-Prot
  ENSP00000494148 UniProtKB/TrEMBL
Ensembl Transcript ENST00000354258 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000383235 UniProtKB/Swiss-Prot
  ENST00000414467 UniProtKB/Swiss-Prot
  ENST00000418205 UniProtKB/Swiss-Prot
  ENST00000424897 UniProtKB/Swiss-Prot
  ENST00000428324 UniProtKB/TrEMBL
  ENST00000439781 UniProtKB/Swiss-Prot
  ENST00000440894 UniProtKB/Swiss-Prot
  ENST00000643049 UniProtKB/TrEMBL
  ENST00000645078 ENTREZGENE
Gene3D-CATH 1.20.1560.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000168394 GTEx
  ENSG00000206297 GTEx
  ENSG00000224212 GTEx
  ENSG00000224748 GTEx
  ENSG00000226173 GTEx
  ENSG00000227816 GTEx
  ENSG00000230705 GTEx
  ENSG00000232367 GTEx
HGNC ID HGNC:43 ENTREZGENE
Human Proteome Map TAP1 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC1_TM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC1_TM_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_Tap-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tap1/ABCB2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Type_I_exporter UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6890 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6890 ENTREZGENE
OMIM 170260 OMIM
  604571 OMIM
PANTHER PTHR24221 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR24221:SF249 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ABC_membrane UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_tran UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35021 PharmGKB, RGD
PROSITE ABC_TM1F UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_TRANSPORTER_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_TRANSPORTER_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF90123 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs 3a01208 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z4R8_HUMAN UniProtKB/TrEMBL
  A0A0S2Z5A6_HUMAN UniProtKB/TrEMBL
  A0A140T9T7_HUMAN UniProtKB/TrEMBL
  B7Z7P4 ENTREZGENE, UniProtKB/TrEMBL
  L8E792_HUMAN UniProtKB/TrEMBL
  Q03518 ENTREZGENE
  Q12847_HUMAN UniProtKB/TrEMBL
  Q12848_HUMAN UniProtKB/TrEMBL
  Q13013_HUMAN UniProtKB/TrEMBL
  Q16148_HUMAN UniProtKB/TrEMBL
  Q53WZ1_HUMAN UniProtKB/TrEMBL
  Q69DM1_HUMAN UniProtKB/TrEMBL
  Q6QWC0_HUMAN UniProtKB/TrEMBL
  Q6QWC1_HUMAN UniProtKB/TrEMBL
  Q8TD77_HUMAN UniProtKB/TrEMBL
  TAP1_HUMAN UniProtKB/Swiss-Prot
  X5CKB3_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q16149 UniProtKB/Swiss-Prot
  Q96CP4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-28 TAP1  transporter 1, ATP binding cassette subfamily B member    transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)  Symbol and/or name change 5135510 APPROVED
2011-08-16 TAP1  transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)  TAP1  transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)  Symbol and/or name change 5135510 APPROVED