SLC22A2

solute carrier family 22 member 2

Pharmacogene

Summary

Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. It is found primarily in the kidney, where it may mediate the first step in cation reabsorption. [provided by RefSeq, Jul 2008]

Known Variants49 total

rsidPosition (GRCh37)AllelesClassClinVar
rs81775186:160,242,437A/Gintron variant
rs81775106:160,250,552G/Asynonymous variant
rs81775096:160,256,651A/Gmissense variant
rs1397375556:160,645,763T/Gbenign
rs1445119046:160,645,766C/Guncertain significance
rs3160066:160,646,365T/C
rs1389684496:160,650,291C/Tintron variant
rs117533496:160,652,678A/Gintron variant
rs1840910766:160,654,815G/Aintron variant
rs1382810886:160,656,533C/A
rs39072386:160,658,422G/A
rs3159866:160,659,952C/A
rs1131871096:160,660,943T/Aintron variant
rs31018236:160,661,168T/G
rs24830951306:160,662,592G/Auncertain significance
rs5303520586:160,662,617T/Cuncertain significance
rs31276066:160,662,910T/C
rs81775176:160,663,420T/Gmissense variant
rs14526221746:160,664,607C/Tuncertain significance
rs81775156:160,664,680G/Alikely benign
rs81775166:160,664,685G/Tmissense variant
rs3715679306:160,664,689G/Alikely benign
rs12980957926:160,664,739A/Cuncertain significance
rs7560835996:160,664,765C/Tuncertain significance
rs2014726186:160,664,778T/Cuncertain significance
rs7668449246:160,666,576C/Tuncertain significance
rs7581367366:160,666,577G/Auncertain significance
rs3160226:160,667,600G/C
rs22794636:160,668,389A/T
rs3160206:160,669,081A/T
rs7565845386:160,670,272T/Auncertain significance
rs3160196:160,670,282A/Tmissense variant
rs7628809846:160,670,318C/Tuncertain significance
rs7505001626:160,670,350A/Guncertain significance
rs3715864296:160,670,399G/Auncertain significance
rs9479823746:160,670,410T/Guncertain significance
rs2019198746:160,671,657G/Amissense variant
rs3767441526:160,671,673T/Cuncertain significance
rs3160146:160,672,506A/Tintron variant
rs31275796:160,674,632G/Aintron variant
rs3698557666:160,677,692C/Tuncertain significance
rs9316513726:160,677,730T/Cuncertain significance
rs7739719256:160,679,417C/Tuncertain significance
rs7731925896:160,679,428G/Cuncertain significance
rs7552173036:160,679,519G/Auncertain significance
rs5327118656:160,679,545C/Tuncertain significance
rs7754548996:160,679,575T/Guncertain significance
rs10176554806:160,679,605C/Tuncertain significance
rs31275736:160,681,393A/Gupstream gene variant

Gene information from NCBI Gene. Variant classifications from ClinVar.