SLC51A

solute carrier family 51 member A

Summary

Predicted to enable protein heterodimerization activity; protein homodimerization activity; and transmembrane transporter activity. Involved in bile acid secretion. Located in basolateral plasma membrane. Implicated in progressive familial intrahepatic cholestasis. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants51 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7475500663:195,943,578G/Alikely benign
rs7791435993:195,943,583G/Alikely benign
rs2017451043:195,943,590C/Tlikely benign
rs5367876793:195,943,591C/Guncertain significance
rs1489138703:195,943,592G/Alikely benign
rs17235893933:195,943,598G/Cuncertain significance
rs1997247313:195,944,752C/Tlikely benign
rs343520443:195,944,764C/Tbenign
rs3704238513:195,944,798C/Tuncertain significance
rs5386706633:195,953,828T/Clikely benign
rs3745340213:195,953,832C/Tlikely benign
rs7704889413:195,953,836C/Auncertain significance
rs1408375223:195,953,837C/Tlikely benign
rs1450687183:195,953,840G/Tlikely benign
rs12607633473:195,953,853C/Alikely benign
rs1387267873:195,953,919G/Auncertain significance
rs7598534153:195,953,959G/Cuncertain significance
rs1469409053:195,953,971G/Cuncertain significance
rs1494378913:195,954,554G/Clikely benign
rs5387704643:195,954,594A/Tuncertain significance
rs7811444063:195,954,977C/Tlikely benign
rs1481315793:195,954,995C/Tlikely benign
rs12334916093:195,954,996G/Auncertain significance
rs1419598093:195,955,043G/Tuncertain significance
rs1460785153:195,955,060G/Auncertain significance
rs1435769723:195,955,084T/Cuncertain significance
rs7775086083:195,955,129G/Auncertain significance
rs7792328953:195,955,670C/Tlikely benign
rs14885347733:195,955,673C/Tlikely benign
rs7682212263:195,955,701G/Cuncertain significance
rs13882852323:195,955,714C/Tpathogenic
rs1391912413:195,955,720G/Auncertain significance
rs1451144743:195,955,744C/Guncertain significance
rs7800068593:195,955,761C/Tlikely benign
rs9398853:195,955,762A/Gbenign
rs1444175583:195,955,767C/Tlikely benign
rs1924752713:195,955,799G/Alikely benign
rs3764731253:195,956,778G/Tlikely benign
rs24740052783:195,956,807C/Tlikely benign
rs7593663373:195,956,823T/Guncertain significance
rs178526873:195,956,827T/Cbenign
rs98498883:195,956,874G/Alikely benign
rs3722599303:195,956,893G/Alikely benign
rs2020179433:195,956,909G/Clikely benign
rs3726910073:195,959,285C/Tlikely benign
rs1407259143:195,959,323A/Guncertain significance
rs2021521493:195,959,341A/Guncertain significance
rs9636679143:195,959,348G/Auncertain significance
rs14763313:195,959,924T/Cbenign
rs5305652063:195,959,951C/Tlikely benign
rs7752395783:195,960,059C/Guncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.