ABCA6

ATP binding cassette subfamily A member 6

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, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24 and may play a role in macrophage lipid homeostasis. [provided by RefSeq, Jul 2008]

Known Variants105 total

rsidPosition (GRCh37)AllelesClassClinVar
rs134871373517:67,075,178T/C—uncertain significance
rs14549071517:67,075,361G/A—uncertain significance
rs37767352617:67,079,080G/T—uncertain significance
rs127093061417:67,079,120G/A—likely benign
rs125503939717:67,079,121T/A—uncertain significance
rs18125824117:67,079,384G/A—uncertain significance
rs20170288017:67,079,400C/T—likely benign
rs75216986217:67,079,453C/T—likely benign
rs14008718517:67,080,435G/C—uncertain significance
rs77718886517:67,080,624A/T—uncertain significance
rs77116766817:67,081,179C/T—uncertain significance
rs76778742417:67,081,187G/T—uncertain significance
rs52746159617:67,081,193G/A—likely benign
rs207274845817:67,081,269C/G—uncertain significance
rs18815811317:67,081,274G/T—uncertain significance
rs18237717617:67,081,275G/C—uncertain significance
rs7754216217:67,081,278A/Gmissense variant—
rs124864411917:67,081,292C/A—uncertain significance
rs26760502117:67,081,771C/T—uncertain significance
rs14101717617:67,081,837C/T—uncertain significance
rs77620887017:67,082,785C/A—uncertain significance
rs13891756017:67,082,787T/C—likely benign
rs14425650017:67,082,799C/A—uncertain significance
rs14832491617:67,082,807T/A—uncertain significance
rs77043176517:67,083,554T/G—uncertain significance
rs20006591517:67,083,603T/C—uncertain significance
rs76841876517:67,084,326C/T—likely benign
rs76203457217:67,084,357T/C—uncertain significance
rs207291259017:67,087,285A/T—likely benign
rs56553803117:67,087,335C/T—uncertain significance
rs250998232517:67,087,342G/A—uncertain significance
rs56829104417:67,087,394T/C—uncertain significance
rs57709205017:67,092,835C/T—uncertain significance
rs250998655317:67,092,870C/T—uncertain significance
rs15122028317:67,092,887C/T—uncertain significance
rs77983428917:67,092,922T/C—likely benign
rs13899270517:67,092,929G/A—uncertain significance
rs14705536417:67,094,075T/C—likely benign
rs14553538617:67,094,147C/A—uncertain significance
rs75790082217:67,096,950G/T—uncertain significance
rs1293624217:67,100,805C/A——
rs1293625017:67,100,813C/T——
rs37637071617:67,102,211C/T—uncertain significance
rs20133597017:67,102,219T/A—likely benign
rs86809984817:67,102,305T/C—uncertain significance
rs74878613717:67,102,320C/T—uncertain significance
rs77194646017:67,103,881T/C—uncertain significance
rs128586837017:67,103,917C/T—uncertain significance
rs75315726717:67,107,015A/T—uncertain significance
rs75654678917:67,107,017C/T—uncertain significance
rs20178705217:67,107,057G/T—uncertain significance
rs74884829517:67,108,347C/A—uncertain significance
rs15074948817:67,108,398C/T—uncertain significance
rs250999911117:67,109,401A/G—uncertain significance
rs122835113417:67,109,452T/C—uncertain significance
rs214467459117:67,109,782T/C—uncertain significance
rs76630921217:67,109,796T/C—uncertain significance
rs77720318417:67,109,811T/G—uncertain significance
rs207347857817:67,109,815T/C—uncertain significance
rs207962873217:67,109,867T/C—uncertain significance
rs928255517:67,109,997A/Gintron variant—
rs386351817:67,110,090T/Cintron variant—
rs207350484617:67,110,943G/T—uncertain significance
rs75339023617:67,110,968C/T—uncertain significance
rs37228521717:67,111,007C/T—uncertain significance
rs36960765717:67,111,041C/T—uncertain significance
rs77540877517:67,111,063T/C—uncertain significance
rs13847959717:67,111,065G/A—likely benign
rs77855184717:67,111,066A/T—uncertain significance
rs251000073317:67,111,067T/C—uncertain significance
rs76005157617:67,111,564T/G—uncertain significance
rs13836277817:67,111,579T/C—uncertain significance
rs77783058317:67,111,582C/A—uncertain significance
rs105448078817:67,111,583C/A—uncertain significance
rs14261073117:67,114,065T/C—uncertain significance
rs138009404017:67,119,417G/A—uncertain significance
rs14720430817:67,119,448A/T—uncertain significance
rs14050753717:67,119,455T/C—uncertain significance
rs74552126517:67,119,536C/T—uncertain significance
rs14079423617:67,119,548T/A—uncertain significance
rs92899656717:67,121,040T/C—uncertain significance
rs14569678017:67,121,110T/C—uncertain significance
rs87895532617:67,121,115T/C—uncertain significance
rs104111725717:67,124,774T/G—uncertain significance
rs250934014217:67,124,921C/T—uncertain significance
rs19953093217:67,125,900A/G—likely benign
rs74777579017:67,129,806A/G—uncertain significance
rs89145518417:67,129,893A/T—uncertain significance
rs37615342517:67,129,909T/C—uncertain significance
rs37607466117:67,129,973C/T—uncertain significance
rs91729496217:67,130,002T/C—uncertain significance
rs14716821917:67,130,808T/C—uncertain significance
rs74996342817:67,130,860C/T—uncertain significance
rs250935000117:67,130,868C/G—uncertain significance
rs14046976117:67,132,257G/A—uncertain significance
rs75656258317:67,132,286T/C—uncertain significance
rs20109593617:67,132,299T/G—uncertain significance
rs74700993217:67,132,348T/G—uncertain significance
rs55347110317:67,132,374C/T—uncertain significance
rs11229999217:67,133,420G/Aintron variant—

Showing 100 of 105 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.