SLC10A2

solute carrier family 10 member 2

Summary

This gene encodes a sodium/bile acid cotransporter. This transporter is the primary mechanism for uptake of intestinal bile acids by apical cells in the distal ileum. Bile acids are the catabolic product of cholesterol metabolism, so this protein is also critical for cholesterol homeostasis. Mutations in this gene cause primary bile acid malabsorption (PBAM); muatations in this gene may also be associated with other diseases of the liver and intestines, such as familial hypertriglyceridemia (FHTG). [provided by RefSeq, Mar 2010]

Known Variants254 total

rsidPosition (GRCh37)AllelesClassClinVar
rs230115913:103,697,728G/A3 prime UTR variant—
rs76277138913:103,698,485A/G—uncertain significance
rs76611454313:103,698,491C/T—uncertain significance
rs14749812913:103,698,492G/A—conflicting classifications of pathogenicity
rs75274983413:103,698,506C/T—uncertain significance
rs20169038913:103,698,510A/T—uncertain significance
rs126325124513:103,698,515C/T—uncertain significance
rs98204724613:103,698,519A/G—likely benign
rs20157145013:103,698,525C/G—conflicting classifications of pathogenicity
rs37035713313:103,698,526G/A—uncertain significance
rs146329726013:103,698,528T/C—likely benign
rs14879166913:103,698,540C/T—likely benign
rs74763185313:103,698,548T/C—uncertain significance
rs250180543413:103,698,551C/T—uncertain significance
rs250180545213:103,698,562G/A—uncertain significance
rs126020689113:103,698,598T/C—uncertain significance
rs77543681813:103,698,605C/G—uncertain significance
rs141757164213:103,698,608A/T—uncertain significance
rs76409511013:103,698,612T/C—uncertain significance
rs250180560913:103,698,619C/A—likely benign
rs27994013:103,698,630C/T—benign
rs14945513:103,700,602A/T——
rs56179779613:103,701,641C/T—uncertain significance
rs6196607413:103,701,648A/G—conflicting classifications of pathogenicity
rs146937275913:103,701,651T/C—uncertain significance
rs20182235713:103,701,654C/T—uncertain significance
rs19967971413:103,701,655G/A—likely benign
rs75678885913:103,701,660A/G—uncertain significance
rs20183954813:103,701,664G/A—likely benign
rs75812187613:103,701,665A/G—uncertain significance
rs20000124213:103,701,666G/C—uncertain significance
rs77970919813:103,701,667C/G—uncertain significance
rs20092393213:103,701,668T/A—uncertain significance
rs20161531613:103,701,670G/C—likely benign
rs7164024813:103,701,672A/G—likely benign
rs20103948113:103,701,678T/C—uncertain significance
rs37031060513:103,701,688C/T—conflicting classifications of pathogenicity
rs13902416813:103,701,689G/A—uncertain significance
rs5639883013:103,701,690G/Amissense variantlikely benign
rs20221284713:103,701,696T/A—uncertain significance
rs20146154113:103,701,702C/T—uncertain significance
rs57107507213:103,701,703G/A—likely benign
rs74675036513:103,701,712C/T—conflicting classifications of pathogenicity
rs36820839913:103,701,720G/C—uncertain significance
rs14909639613:103,701,723T/A—uncertain significance
rs76993094413:103,701,729A/G—uncertain significance
rs250181045913:103,701,733C/A—uncertain significance
rs18202136113:103,701,743G/A—uncertain significance
rs77579167813:103,701,750A/T—uncertain significance
rs20087513013:103,701,751T/C—likely benign
rs20188783113:103,701,757C/T—likely benign
rs14671212013:103,701,758G/C—uncertain significance
rs75467370913:103,701,768T/C—uncertain significance
rs187570612813:103,701,771C/T—uncertain significance
rs20141265413:103,701,772C/T—likely benign
rs7254750513:103,701,773G/Tmissense variantuncertain significance
rs77789296313:103,701,774T/G—uncertain significance
rs74933709013:103,701,787C/T—likely benign
rs14554177413:103,701,788G/A—uncertain significance
rs14809431413:103,701,790T/A—likely benign
rs20182150613:103,701,791C/T—uncertain significance
rs14183817913:103,701,792G/A—uncertain significance
rs19073451213:103,701,799A/G—conflicting classifications of pathogenicity
rs147472997313:103,701,806A/G—likely benign
rs76912058013:103,701,809T/G—likely benign
rs800095613:103,703,579C/T—benign
rs20048402213:103,703,603A/T—uncertain significance
rs15022916313:103,703,609G/C—uncertain significance
rs77706782113:103,703,611A/G—uncertain significance
rs155533412013:103,703,612C/A—uncertain significance
rs117221365513:103,703,615G/C—conflicting classifications of pathogenicity
rs105458248413:103,703,616G/A—uncertain significance
rs77027433713:103,703,622C/A—uncertain significance
rs13881160313:103,703,631C/G—uncertain significance
rs19971447213:103,703,632T/C—uncertain significance
rs76048512913:103,703,638G/T—uncertain significance
rs12191784813:103,703,640A/Gmissense variantpathogenic
rs76398250013:103,703,644A/T—uncertain significance
rs75375076713:103,703,647C/A—uncertain significance
rs187577199113:103,703,651G/A—likely benign
rs78020157313:103,703,662C/T—uncertain significance
rs250181386013:103,703,671A/G—uncertain significance
rs77363588513:103,703,698G/T—uncertain significance
rs77171827113:103,703,704T/G—uncertain significance
rs14751541013:103,703,713C/T—uncertain significance
rs14005092313:103,703,714G/A—conflicting classifications of pathogenicity
rs187577505113:103,703,719G/A—uncertain significance
rs250181407313:103,703,728T/C—uncertain significance
rs55010172113:103,703,736A/G—uncertain significance
rs250181412613:103,703,748A/C—uncertain significance
rs139930784413:103,703,753A/C—uncertain significance
rs88720035113:103,703,758G/A—uncertain significance
rs19997011513:103,703,759G/C—uncertain significance
rs14413513213:103,703,764C/T—uncertain significance
rs14437980713:103,703,765G/A—likely benign
rs14841587013:103,703,769G/A—uncertain significance
rs77512510513:103,703,770C/T—uncertain significance
rs14250618513:103,703,771G/A—likely benign
rs77617967513:103,703,783C/T—uncertain significance
rs250181430013:103,703,784T/C—uncertain significance

Showing 100 of 254 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.