SLC27A5

solute carrier family 27 member 5

Summary

The protein encoded by this gene is an isozyme of very long-chain acyl-CoA synthetase (VLCS). It is capable of activating very long-chain fatty-acids containing 24- and 26-carbons. It is expressed in liver and associated with endoplasmic reticulum but not with peroxisomes. Its primary role is in fatty acid elongation or complex lipid synthesis rather than in degradation. This gene has a mouse ortholog. [provided by RefSeq, Jul 2008]

Known Variants196 total

rsidPosition (GRCh37)AllelesClassClinVar
rs75706447219:59,009,873G/C—uncertain significance
rs104657360119:59,009,874C/A—likely benign
rs18499440819:59,009,885G/C—conflicting classifications of pathogenicity
rs53622254119:59,009,903A/G—likely benign
rs55259746819:59,009,906C/A—uncertain significance
rs135768533319:59,009,920T/C—uncertain significance
rs14641560019:59,009,937C/T—conflicting classifications of pathogenicity
rs20139367019:59,009,938G/A—uncertain significance
rs14561812219:59,009,949G/C—likely benign
rs76182140919:59,009,953G/A—uncertain significance
rs251421908819:59,009,954G/C—uncertain significance
rs119366084819:59,009,965C/T—likely benign
rs251421914019:59,009,967A/G—uncertain significance
rs205323545219:59,009,971G/A—likely benign
rs14463835219:59,009,980C/A—uncertain significance
rs56429534619:59,010,015C/T—uncertain significance
rs251421934319:59,010,027A/T—uncertain significance
rs251421936819:59,010,042G/A—uncertain significance
rs76161526919:59,010,046C/G—uncertain significance
rs57814245019:59,010,153T/C—uncertain significance
rs138167986119:59,010,155G/C—uncertain significance
rs77994843119:59,010,156A/C—uncertain significance
rs77078607219:59,010,171G/T—uncertain significance
rs119331722719:59,010,172G/A—uncertain significance
rs75776399919:59,010,196C/T—uncertain significance
rs56398965719:59,010,202C/A—uncertain significance
rs20205447119:59,010,207T/C—conflicting classifications of pathogenicity
rs127103500719:59,010,215C/G—uncertain significance
rs156862571519:59,010,218C/A—uncertain significance
rs14339790019:59,010,221C/T—uncertain significance
rs75402311419:59,010,299T/A—uncertain significance
rs77138833519:59,010,512G/A—uncertain significance
rs7780786419:59,010,524C/T—benign
rs14157472819:59,010,545C/T—uncertain significance
rs118905566719:59,010,559C/T—uncertain significance
rs20121757519:59,010,569C/T—benign
rs37090221619:59,010,587T/C—conflicting classifications of pathogenicity
rs480127419:59,010,593A/G—benign
rs156862612319:59,010,596A/T—uncertain significance
rs37578512519:59,010,597G/A—uncertain significance
rs227849719:59,010,819G/T—benign
rs156862632719:59,010,850G/A—uncertain significance
rs37185844119:59,010,855G/A—uncertain significance
rs129002888719:59,010,869C/G—uncertain significance
rs37515668719:59,010,884G/A—uncertain significance
rs76519678719:59,010,909C/A—uncertain significance
rs14746495919:59,010,910A/G—conflicting classifications of pathogenicity
rs37011644919:59,010,914C/T—uncertain significance
rs75111055019:59,010,920C/A—uncertain significance
rs52995504519:59,010,948C/G—likely benign
rs118255324819:59,010,949G/A—uncertain significance
rs205325002719:59,010,964C/A—uncertain significance
rs74826912219:59,010,971G/C—uncertain significance
rs77534485919:59,010,991C/A—uncertain significance
rs75683970919:59,010,999G/A—likely benign
rs74977197919:59,011,016G/T—uncertain significance
rs74858484819:59,011,028C/A—conflicting classifications of pathogenicity
rs77217717819:59,011,030A/T—uncertain significance
rs156862667719:59,011,048C/T—uncertain significance
rs205325207019:59,011,065A/G—likely benign
rs20137286119:59,011,067G/T—likely benign
rs20198139219:59,011,706C/G—uncertain significance
rs18348670019:59,011,739C/T—uncertain significance
rs55381915619:59,011,745C/T—uncertain significance
rs155579368619:59,011,748G/A—uncertain significance
rs37587011419:59,011,755C/T—uncertain significance
rs56781209419:59,011,756G/A—uncertain significance
rs53682673119:59,011,767G/A—conflicting classifications of pathogenicity
rs144875372519:59,011,777A/C—uncertain significance
rs37384768119:59,011,806A/C—uncertain significance
rs20025251919:59,011,868C/T—conflicting classifications of pathogenicity
rs14626740819:59,011,869G/A—conflicting classifications of pathogenicity
rs37222369519:59,011,911C/T—uncertain significance
rs78101592319:59,011,916C/T—uncertain significance
rs55886385119:59,011,917G/A—uncertain significance
rs14845955019:59,011,918C/T—conflicting classifications of pathogenicity
rs88604409119:59,011,941T/C—conflicting classifications of pathogenicity
rs77388210719:59,011,959C/T—uncertain significance
rs75287095919:59,011,991C/T—uncertain significance
rs57461750219:59,012,021C/G—uncertain significance
rs14970908419:59,012,027C/T—conflicting classifications of pathogenicity
rs14454544519:59,012,046G/A—uncertain significance
rs14848876419:59,012,060C/T—uncertain significance
rs37601347419:59,012,646G/A—conflicting classifications of pathogenicity
rs37268797819:59,012,650C/T—likely benign
rs156862795919:59,012,658G/A—uncertain significance
rs74656740819:59,012,671G/A—likely benign
rs14267224119:59,012,675C/T—likely benign
rs97276873819:59,012,705G/T—uncertain significance
rs251422791219:59,012,707C/T—likely benign
rs14429567119:59,012,710G/A—benign
rs57665074119:59,012,711C/T—uncertain significance
rs78046468419:59,012,720C/T—uncertain significance
rs54604504019:59,012,721G/A—uncertain significance
rs13979786319:59,012,749G/A—likely benign
rs251422808419:59,012,759G/T—uncertain significance
rs480127519:59,021,049G/A—benign
rs160004498219:59,021,205T/A—likely benign
rs251424623519:59,021,237C/T—uncertain significance
rs19984467719:59,021,241C/T—uncertain significance

Showing 100 of 196 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.