ABCA5

ATP binding cassette subfamily A member 5

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, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]

Known Variants138 total

rsidPosition (GRCh37)AllelesClassClinVar
rs37439000817:67,243,706C/T—uncertain significance
rs14752327617:67,244,441T/C—uncertain significance
rs77822362417:67,244,447A/T—uncertain significance
rs20167760317:67,246,043T/C—likely benign
rs76885023717:67,246,051T/C—uncertain significance
rs55997455817:67,246,623G/A—uncertain significance
rs36980115217:67,246,635G/A—uncertain significance
rs20077988617:67,246,665G/A—uncertain significance
rs250950524917:67,246,709A/C—uncertain significance
rs37502687217:67,246,727A/G—uncertain significance
rs76391207917:67,247,881C/T—likely benign
rs15069634417:67,247,893C/G—uncertain significance
rs136688910217:67,247,894T/C—uncertain significance
rs19984842517:67,247,902C/T—likely benign
rs75711390417:67,247,991C/A—uncertain significance
rs7726277317:67,249,711C/T—likely benign
rs74651267917:67,249,748T/C—uncertain significance
rs77307351817:67,249,790T/C—uncertain significance
rs14409576817:67,249,797A/C—likely benign
rs19975330417:67,249,934C/G—pathogenic
rs37252362017:67,249,940G/A—likely pathogenic
rs20081005417:67,249,997G/A—uncertain significance
rs19964109317:67,250,466C/G—uncertain significance
rs75328857317:67,250,496T/G—uncertain significance
rs76261897317:67,251,745C/T—uncertain significance
rs20062120417:67,251,884A/G—benign
rs250951625617:67,251,885C/A—uncertain significance
rs14317155517:67,251,907C/T—likely benign
rs7883714417:67,251,995A/G—benign
rs14233426417:67,252,378C/A—uncertain significance
rs14645174317:67,252,413G/A—likely benign
rs36830551917:67,255,871G/A—uncertain significance
rs7834918217:67,257,281T/C—benign
rs13825213517:67,257,313T/C—likely benign
rs14961989517:67,257,330T/C—uncertain significance
rs14437677317:67,257,355C/T—likely benign
rs76261634417:67,257,737C/G—uncertain significance
rs7594413217:67,257,812T/C—benign
rs74612980017:67,257,830G/T—uncertain significance
rs74740639017:67,257,850A/G—uncertain significance
rs76137905817:67,257,889C/T—uncertain significance
rs14619651217:67,260,904T/C—uncertain significance
rs76516261517:67,260,913T/C—uncertain significance
rs13909666417:67,260,917G/T—uncertain significance
rs55156456317:67,260,919A/G—uncertain significance
rs56677902317:67,260,924C/T—benign
rs1244964917:67,260,926A/G—benign
rs37048618317:67,260,940A/T—uncertain significance
rs159815832217:67,261,021A/C—uncertain significance
rs250953670817:67,264,105C/T—uncertain significance
rs250953674517:67,264,118G/A—uncertain significance
rs53222910317:67,264,137T/C—uncertain significance
rs128405747317:67,264,175T/G—uncertain significance
rs37169187517:67,266,782A/G—uncertain significance
rs14530010517:67,266,828T/C—likely benign
rs15025510417:67,267,376G/A—uncertain significance
rs207527063917:67,267,393G/C—uncertain significance
rs74829509317:67,267,413G/C—uncertain significance
rs250954708617:67,270,124T/C—uncertain significance
rs13786443917:67,270,209A/G—benign
rs8026479517:67,270,252A/G—benign
rs55896665417:67,270,277G/A—likely benign
rs74766700417:67,273,807G/A—likely pathogenic
rs74891075117:67,273,834C/T—uncertain significance
rs15057312517:67,273,839G/T—likely benign
rs76741692717:67,273,857C/G—uncertain significance
rs76191115017:67,273,867T/C—uncertain significance
rs14216569817:67,273,927C/A—likely benign
rs57343121017:67,276,383T/G——
rs250956251917:67,280,102T/A—uncertain significance
rs76308897817:67,280,149C/T—likely benign
rs14043074617:67,280,184T/C—benign
rs139383008217:67,282,074T/C—uncertain significance
rs75721315517:67,282,369G/A—uncertain significance
rs20173059017:67,282,421C/T—likely benign
rs37289427717:67,282,449C/T—uncertain significance
rs121208755217:67,283,757C/A—uncertain significance
rs18601597417:67,283,844G/A—uncertain significance
rs207547433817:67,283,849G/A—uncertain significance
rs75895875917:67,283,859C/A—uncertain significance
rs76807313317:67,283,874G/C—uncertain significance
rs14524145717:67,285,396T/A—uncertain significance
rs37617907017:67,285,397T/C—uncertain significance
rs75542473817:67,285,436A/G—uncertain significance
rs207550620717:67,286,038T/C—uncertain significance
rs37204804917:67,286,122T/G—likely benign
rs75494276217:67,286,165T/C—uncertain significance
rs18460748017:67,287,379A/G—likely benign
rs77026182817:67,287,450A/G—uncertain significance
rs77275583417:67,287,451T/C—uncertain significance
rs20051665717:67,290,025G/A——
rs77030160917:67,290,806C/T—likely benign
rs13849628117:67,290,812A/G—likely benign
rs37312802217:67,290,835T/C—uncertain significance
rs1768656917:67,290,840C/T—benign
rs11479050017:67,293,363A/C—benign
rs20102334617:67,293,425T/C—uncertain significance
rs37735625117:67,293,459G/C—uncertain significance
rs159819404317:67,297,314G/A—likely benign
rs76570267217:67,297,316C/T—uncertain significance

Showing 100 of 138 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.