SLC18A3

solute carrier family 18 member A3

Summary

This gene is a member of the vesicular amine transporter family. The encoded transmembrane protein transports acetylcholine into secretory vesicles for release into the extracellular space. Acetylcholine transport utilizes a proton gradient established by a vacuolar ATPase. This gene is located within the first intron of the choline acetyltransferase gene. [provided by RefSeq, Jul 2008]

Known Variants210 total

rsidPosition (GRCh37)AllelesClassClinVar
rs117591267410:50,818,795C/T—likely benign
rs183826877310:50,818,797C/G—uncertain significance
rs135795725610:50,818,798G/A—likely benign
rs818773210:50,818,818G/T—uncertain significance
rs75999042910:50,818,822G/A—likely benign
rs818773310:50,818,823G/C—benign
rs75513416110:50,818,825G/A—likely benign
rs19952065110:50,818,827C/A—uncertain significance
rs75397126410:50,818,832A/G—uncertain significance
rs14143976310:50,818,850G/A—uncertain significance
rs818773410:50,818,871C/T—conflicting classifications of pathogenicity
rs818773510:50,818,874C/T—uncertain significance
rs14048985010:50,818,876G/A—likely benign
rs249626946010:50,818,894T/A—likely benign
rs213268567010:50,818,896T/C—uncertain significance
rs183827385710:50,818,898A/T—uncertain significance
rs134434875710:50,818,900C/T—likely benign
rs132573632610:50,818,923A/G—uncertain significance
rs101679364410:50,818,937A/G—uncertain significance
rs95502579810:50,818,961G/A—uncertain significance
rs127408880910:50,818,963C/G—uncertain significance
rs7767217310:50,818,969C/G—uncertain significance
rs77567483410:50,818,979C/G—uncertain significance
rs144975571410:50,818,981C/T—likely benign
rs75856787110:50,818,994G/A—likely benign
rs123554664810:50,819,002C/A—likely benign
rs75236910710:50,819,011C/T—likely benign
rs91958574210:50,819,024C/T—uncertain significance
rs77851320710:50,819,025C/T—uncertain significance
rs213268599410:50,819,026C/T—likely benign
rs74732470210:50,819,030C/T—likely benign
rs15043660910:50,819,035G/T—likely benign
rs77323959710:50,819,047G/A—likely benign
rs249627029110:50,819,065C/T—uncertain significance
rs183827978310:50,819,066A/G—conflicting classifications of pathogenicity
rs249627035110:50,819,074C/T—likely benign
rs77899759610:50,819,082C/G—uncertain significance
rs53844291410:50,819,088C/T—uncertain significance
rs76888048310:50,819,104A/G—likely benign
rs135164926110:50,819,109G/C—uncertain significance
rs101800877410:50,819,115C/A—uncertain significance
rs77108006310:50,819,133C/T—uncertain significance
rs20089404710:50,819,136C/T—uncertain significance
rs125809353310:50,819,137G/A—likely benign
rs14498977110:50,819,165C/T—likely benign
rs76525145510:50,819,171G/T—uncertain significance
rs89246987010:50,819,178A/G—uncertain significance
rs75781624810:50,819,179G/A—likely benign
rs249627083510:50,819,204C/T—uncertain significance
rs213268642610:50,819,214G/C—uncertain significance
rs20183961310:50,819,228C/T—uncertain significance
rs124270762810:50,819,229G/T—uncertain significance
rs77444589110:50,819,240G/T—uncertain significance
rs142842501110:50,819,242C/A—uncertain significance
rs75030647610:50,819,296C/A—likely benign
rs76626206610:50,819,299C/T—likely benign
rs75450067310:50,819,301C/T—uncertain significance
rs14225994510:50,819,305G/A—likely benign
rs99409745510:50,819,310A/G—uncertain significance
rs37517147810:50,819,311C/T—likely benign
rs14477703310:50,819,316C/T—uncertain significance
rs74964207610:50,819,320G/C—likely benign
rs77140283810:50,819,325C/G—uncertain significance
rs74594620710:50,819,329G/T—likely benign
rs121369900210:50,819,356C/T—likely benign
rs77421620210:50,819,377A/G—uncertain significance
rs144689717610:50,819,381A/C—uncertain significance
rs155480062110:50,819,385T/A—conflicting classifications of pathogenicity
rs183828881510:50,819,386C/T—likely benign
rs14856666710:50,819,389C/G—likely benign
rs135001980510:50,819,390G/T—uncertain significance
rs818772610:50,819,401G/C—benign
rs37416024510:50,819,409C/T—uncertain significance
rs77673496910:50,819,420C/A—uncertain significance
rs818772710:50,819,422T/C—benign
rs75941704510:50,819,428G/A—likely benign
rs14041432010:50,819,432G/T—uncertain significance
rs76019163710:50,819,437G/A—likely benign
rs213268693810:50,819,442C/A—uncertain significance
rs76378861710:50,819,455C/T—likely benign
rs75893419210:50,819,466T/C—uncertain significance
rs139154687910:50,819,468G/T—uncertain significance
rs75507512010:50,819,473G/T—likely benign
rs136830123010:50,819,490T/A—uncertain significance
rs122824912510:50,819,493A/G—uncertain significance
rs127008333710:50,819,494T/C—likely benign
rs77521308610:50,819,501G/T—uncertain significance
rs77007438410:50,819,503C/T—likely benign
rs91384893610:50,819,504G/C—uncertain significance
rs77193550010:50,819,513G/T—uncertain significance
rs94529052210:50,819,527G/T—likely benign
rs143929651010:50,819,551C/T—likely benign
rs76132522210:50,819,554G/A—likely benign
rs126957587810:50,819,555C/T—likely benign
rs76342828610:50,819,564C/A—uncertain significance
rs13973205310:50,819,567G/A—uncertain significance
rs103956866810:50,819,574C/T—uncertain significance
rs145453627410:50,819,580C/A—uncertain significance
rs75285163310:50,819,589C/A—uncertain significance
rs55914729310:50,819,597C/A—likely benign

Showing 100 of 210 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.