ABCA8
ATP binding cassette subfamily A member 8
Summary
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Known Variants107 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs369120203 | 17:66,864,266 | G/T | — | uncertain significance |
| rs759805595 | 17:66,864,281 | T/C | — | uncertain significance |
| rs2509368136 | 17:66,864,285 | A/T | — | uncertain significance |
| rs377751712 | 17:66,865,909 | A/G | — | uncertain significance |
| rs765746708 | 17:66,871,459 | C/T | — | uncertain significance |
| rs146578986 | 17:66,871,777 | T/A | — | uncertain significance |
| rs752694814 | 17:66,871,824 | G/T | — | uncertain significance |
| rs756028935 | 17:66,871,836 | C/A | — | uncertain significance |
| rs757030835 | 17:66,871,843 | C/T | — | uncertain significance |
| rs372083205 | 17:66,872,640 | G/A | — | uncertain significance |
| rs771230510 | 17:66,872,646 | T/C | — | uncertain significance |
| rs147157569 | 17:66,872,662 | A/T | — | uncertain significance |
| rs150780497 | 17:66,872,807 | A/C | — | likely benign |
| rs184510635 | 17:66,872,845 | C/G | — | benign |
| rs768328938 | 17:66,873,661 | G/A | — | uncertain significance |
| rs1054911177 | 17:66,873,678 | G/A | — | uncertain significance |
| rs2066238882 | 17:66,873,708 | G/A | — | uncertain significance |
| rs1360191619 | 17:66,873,795 | C/T | — | uncertain significance |
| rs4148008 | 17:66,875,294 | C/G | intron variant | — |
| rs2509415939 | 17:66,877,269 | C/A | — | uncertain significance |
| rs1207858126 | 17:66,877,325 | T/C | — | uncertain significance |
| rs148753714 | 17:66,877,343 | A/G | — | uncertain significance |
| rs753490813 | 17:66,878,066 | C/G | — | uncertain significance |
| rs202208717 | 17:66,878,094 | G/A | — | uncertain significance |
| rs2509422449 | 17:66,878,808 | C/T | — | uncertain significance |
| rs765124693 | 17:66,878,832 | G/T | — | uncertain significance |
| rs2509422781 | 17:66,878,858 | A/G | — | uncertain significance |
| rs753305267 | 17:66,879,952 | C/T | — | uncertain significance |
| rs141932821 | 17:66,879,965 | C/T | — | benign |
| rs145796352 | 17:66,879,975 | A/G | — | uncertain significance |
| rs1044747804 | 17:66,879,990 | G/A | — | uncertain significance |
| rs771652105 | 17:66,880,477 | G/C | — | uncertain significance |
| rs550451294 | 17:66,880,506 | C/T | — | uncertain significance |
| rs758743607 | 17:66,880,513 | C/T | — | uncertain significance |
| rs980361945 | 17:66,880,537 | G/A | — | uncertain significance |
| rs148021217 | 17:66,883,172 | A/C | — | uncertain significance |
| rs1157651192 | 17:66,883,279 | C/A | — | uncertain significance |
| rs146019279 | 17:66,883,497 | T/C | — | uncertain significance |
| rs757791638 | 17:66,883,524 | T/A | — | uncertain significance |
| rs780617537 | 17:66,883,529 | C/G | — | uncertain significance |
| rs2066490973 | 17:66,883,531 | C/T | — | uncertain significance |
| rs1378226132 | 17:66,883,626 | G/A | — | likely benign |
| rs781006841 | 17:66,883,638 | G/A | — | uncertain significance |
| rs10852765 | 17:66,884,879 | G/A | intron variant | — |
| rs2509456380 | 17:66,887,637 | T/A | — | uncertain significance |
| rs770509486 | 17:66,887,676 | G/A | — | uncertain significance |
| rs575143135 | 17:66,887,716 | C/T | — | uncertain significance |
| rs750655943 | 17:66,887,719 | T/C | — | uncertain significance |
| rs749781948 | 17:66,887,728 | C/T | — | uncertain significance |
| rs1401628082 | 17:66,890,385 | C/T | — | likely benign |
| rs751214809 | 17:66,890,426 | T/C | — | uncertain significance |
| rs368314276 | 17:66,890,447 | T/C | — | uncertain significance |
| rs2509469341 | 17:66,891,029 | T/C | — | uncertain significance |
| rs2509469579 | 17:66,891,082 | G/C | — | uncertain significance |
| rs369130116 | 17:66,891,117 | G/A | — | likely benign |
| rs140095797 | 17:66,891,131 | G/C | — | conflicting classifications of pathogenicity |
| rs1403093087 | 17:66,898,867 | G/C | — | uncertain significance |
| rs748235883 | 17:66,898,887 | G/A | — | uncertain significance |
| rs2509491659 | 17:66,898,979 | T/C | — | uncertain significance |
| rs753536798 | 17:66,898,983 | C/T | — | uncertain significance |
| rs2509494162 | 17:66,899,526 | A/C | — | uncertain significance |
| rs553722908 | 17:66,899,552 | G/T | — | uncertain significance |
| rs575245439 | 17:66,899,588 | C/G | — | uncertain significance |
| rs545924794 | 17:66,899,599 | C/T | — | uncertain significance |
| rs2509503209 | 17:66,902,292 | T/A | — | uncertain significance |
| rs140010342 | 17:66,902,302 | G/T | missense variant | — |
| rs375564696 | 17:66,903,932 | C/T | — | uncertain significance |
| rs1265170172 | 17:66,913,565 | T/C | — | likely benign |
| rs144777539 | 17:66,914,289 | G/C | missense variant | — |
| rs747801610 | 17:66,914,307 | G/A | — | uncertain significance |
| rs747462716 | 17:66,915,461 | G/T | — | uncertain significance |
| rs199613232 | 17:66,915,474 | T/C | — | uncertain significance |
| rs1271470764 | 17:66,915,529 | A/T | — | uncertain significance |
| rs1199274317 | 17:66,915,533 | G/C | — | uncertain significance |
| rs201033115 | 17:66,915,594 | T/G | — | uncertain significance |
| rs4147989 | 17:66,915,598 | G/T | — | uncertain significance |
| rs148466160 | 17:66,915,604 | G/A | — | likely benign |
| rs2509548944 | 17:66,917,558 | A/G | — | uncertain significance |
| rs144697364 | 17:66,917,582 | C/T | — | uncertain significance |
| rs200496485 | 17:66,918,391 | G/C | — | uncertain significance |
| rs775281074 | 17:66,918,401 | T/C | — | uncertain significance |
| rs545438229 | 17:66,920,848 | G/T | — | uncertain significance |
| rs1343101396 | 17:66,920,849 | C/T | — | uncertain significance |
| rs143566631 | 17:66,924,155 | G/A | — | likely benign |
| rs2509566254 | 17:66,924,170 | G/A | — | uncertain significance |
| rs147262358 | 17:66,925,703 | A/G | — | uncertain significance |
| rs1164866852 | 17:66,925,759 | G/T | — | likely benign |
| rs766499930 | 17:66,925,784 | A/T | — | uncertain significance |
| rs573542578 | 17:66,925,824 | A/G | — | uncertain significance |
| rs372117339 | 17:66,928,448 | G/T | — | uncertain significance |
| rs149486717 | 17:66,928,473 | C/T | — | benign |
| rs369445913 | 17:66,928,606 | T/C | — | uncertain significance |
| rs1043526561 | 17:66,929,331 | G/T | — | uncertain significance |
| rs763535801 | 17:66,929,334 | G/C | — | uncertain significance |
| rs779473257 | 17:66,929,341 | G/A | — | likely benign |
| rs191099127 | 17:66,929,367 | A/G | — | uncertain significance |
| rs142326781 | 17:66,929,397 | G/C | — | uncertain significance |
| rs8070184 | 17:66,932,396 | C/G | — | — |
| rs761273862 | 17:66,933,133 | C/T | — | uncertain significance |
| rs775980906 | 17:66,936,923 | C/G | — | uncertain significance |
Showing 100 of 107 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.