ABCB5
ATP binding cassette subfamily B member 5
Summary
ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008]
Known Variants89 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1474544715 | 7:20,662,952 | A/G | — | uncertain significance |
| rs75494098 | 7:20,663,096 | C/T | intron variant | — |
| rs563029385 | 7:20,666,190 | G/C | — | uncertain significance |
| rs369958537 | 7:20,666,206 | G/T | — | uncertain significance |
| rs569259461 | 7:20,668,341 | C/A | — | uncertain significance |
| rs539406911 | 7:20,668,349 | C/G | — | uncertain significance |
| rs774669156 | 7:20,668,371 | G/A | — | uncertain significance |
| rs2534883429 | 7:20,668,378 | G/A | — | uncertain significance |
| rs767568928 | 7:20,668,381 | C/A | — | uncertain significance |
| rs745680917 | 7:20,668,443 | C/G | — | uncertain significance |
| rs1194532103 | 7:20,668,453 | C/T | — | uncertain significance |
| rs2534888812 | 7:20,671,694 | A/G | — | uncertain significance |
| rs77923898 | 7:20,680,049 | A/G | downstream gene variant | — |
| rs73276602 | 7:20,681,850 | A/G | — | — |
| rs202100779 | 7:20,682,857 | A/T | — | uncertain significance |
| rs757454697 | 7:20,682,868 | T/C | — | uncertain significance |
| rs770339087 | 7:20,682,874 | T/C | — | uncertain significance |
| rs17143212 | 7:20,682,884 | C/T | missense variant | — |
| rs767761999 | 7:20,682,988 | C/T | — | uncertain significance |
| rs569006123 | 7:20,683,122 | T/C | — | uncertain significance |
| rs1784339323 | 7:20,683,164 | T/C | — | uncertain significance |
| rs572751870 | 7:20,683,169 | G/A | — | likely benign |
| rs751894548 | 7:20,683,182 | A/G | — | uncertain significance |
| rs1434401090 | 7:20,683,230 | T/A | — | uncertain significance |
| rs757579249 | 7:20,683,254 | G/T | — | uncertain significance |
| rs77094935 | 7:20,685,369 | T/G | — | benign |
| rs151287364 | 7:20,685,397 | A/C | — | uncertain significance |
| rs2534915329 | 7:20,685,625 | A/C | — | uncertain significance |
| rs771816493 | 7:20,687,173 | A/T | — | uncertain significance |
| rs183727655 | 7:20,687,224 | G/A | — | likely benign |
| rs1490611073 | 7:20,687,234 | G/A | — | uncertain significance |
| rs909405795 | 7:20,687,264 | T/C | — | uncertain significance |
| rs767932235 | 7:20,689,705 | A/G | — | uncertain significance |
| rs2534931653 | 7:20,691,061 | G/A | — | uncertain significance |
| rs1205696645 | 7:20,691,190 | A/T | — | uncertain significance |
| rs149065510 | 7:20,698,191 | C/T | — | likely benign |
| rs201692652 | 7:20,698,247 | C/T | — | uncertain significance |
| rs78859324 | 7:20,698,251 | T/G | — | likely benign |
| rs2301641 | 7:20,698,270 | G/A | — | uncertain significance |
| rs2534952556 | 7:20,698,279 | G/C | — | uncertain significance |
| rs2158852 | 7:20,715,133 | C/G | — | — |
| rs2535015306 | 7:20,721,128 | G/T | — | uncertain significance |
| rs764961888 | 7:20,721,137 | G/T | — | uncertain significance |
| rs114238979 | 7:20,721,152 | G/A | — | benign |
| rs758458740 | 7:20,721,158 | G/T | — | uncertain significance |
| rs139913454 | 7:20,721,165 | G/A | — | uncertain significance |
| rs371474880 | 7:20,721,207 | A/C | — | uncertain significance |
| rs775739574 | 7:20,721,222 | C/T | — | likely benign |
| rs550329623 | 7:20,721,245 | C/G | — | uncertain significance |
| rs768069724 | 7:20,721,249 | T/C | — | uncertain significance |
| rs1318429477 | 7:20,721,282 | T/C | — | uncertain significance |
| rs745696978 | 7:20,725,407 | G/A | — | uncertain significance |
| rs763265331 | 7:20,738,039 | C/T | — | uncertain significance |
| rs774039470 | 7:20,738,045 | G/A | — | uncertain significance |
| rs1234810873 | 7:20,738,048 | T/C | — | uncertain significance |
| rs749773246 | 7:20,738,088 | C/G | — | uncertain significance |
| rs2535061342 | 7:20,738,144 | T/A | — | uncertain significance |
| rs1273295634 | 7:20,739,511 | G/A | — | uncertain significance |
| rs373783857 | 7:20,739,693 | G/A | — | uncertain significance |
| rs150850020 | 7:20,739,718 | T/C | — | uncertain significance |
| rs2535077258 | 7:20,744,408 | T/C | — | uncertain significance |
| rs2535123218 | 7:20,762,756 | G/C | — | uncertain significance |
| rs1164214238 | 7:20,762,774 | A/G | — | uncertain significance |
| rs1781929548 | 7:20,762,787 | C/T | — | uncertain significance |
| rs775820951 | 7:20,762,799 | G/C | — | uncertain significance |
| rs35885925 | 7:20,766,752 | G/T | — | benign |
| rs4721940 | 7:20,767,815 | C/T | intron variant | — |
| rs1782101917 | 7:20,767,950 | G/C | — | uncertain significance |
| rs10254317 | 7:20,768,013 | G/A | synonymous variant | — |
| rs149344459 | 7:20,768,033 | C/A | — | uncertain significance |
| rs201830783 | 7:20,778,671 | A/G | — | uncertain significance |
| rs768266776 | 7:20,782,546 | A/C | — | uncertain significance |
| rs750902829 | 7:20,782,596 | G/C | — | uncertain significance |
| rs756540270 | 7:20,782,598 | G/C | — | uncertain significance |
| rs1782610966 | 7:20,782,651 | C/T | — | uncertain significance |
| rs891349274 | 7:20,784,887 | T/G | — | uncertain significance |
| rs200758602 | 7:20,784,896 | G/C | — | uncertain significance |
| rs143407594 | 7:20,784,952 | T/C | — | uncertain significance |
| rs59334881 | 7:20,785,002 | G/A | — | benign |
| rs376528064 | 7:20,785,006 | T/A | — | uncertain significance |
| rs2535174803 | 7:20,785,041 | T/G | — | uncertain significance |
| rs771116956 | 7:20,785,044 | A/C | — | uncertain significance |
| rs2108258 | 7:20,791,998 | A/G | intron variant | — |
| rs779510312 | 7:20,793,086 | T/C | — | uncertain significance |
| rs745507733 | 7:20,795,050 | G/T | — | uncertain significance |
| rs144181270 | 7:20,795,099 | T/C | — | likely benign |
| rs558313470 | 7:20,795,180 | C/T | — | uncertain significance |
| rs147340449 | 7:20,795,208 | C/T | — | likely benign |
| rs202199638 | 7:20,795,220 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.