SNAP25

synaptosome associated protein 25

Summary

Synaptic vesicle membrane docking and fusion is mediated by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) located on the vesicle membrane (v-SNAREs) and the target membrane (t-SNAREs). The assembled v-SNARE/t-SNARE complex consists of a bundle of four helices, one of which is supplied by v-SNARE and the other three by t-SNARE. For t-SNAREs on the plasma membrane, the protein syntaxin supplies one helix and the protein encoded by this gene contributes the other two. Therefore, this gene product is a presynaptic plasma membrane protein involved in the regulation of neurotransmitter release. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

Known Variants201 total

rsidPosition (GRCh37)AllelesClassClinVar
rs603976920:10,198,954A/G——
rs36303520:10,218,958C/Tintron variant—
rs36303920:10,220,496G/Aintron variant—
rs610457120:10,224,750A/G—benign
rs36304320:10,226,146C/Tintron variant—
rs36305020:10,234,257G/Aintron variantbenign
rs36301820:10,236,231A/T——
rs36256220:10,243,186G/Aintron variant—
rs36258220:10,254,287T/Aintron variant—
rs36258420:10,254,475G/Aintron variant—
rs11575350020:10,255,791T/C—likely benign
rs1154787220:10,256,106C/A—likely benign
rs4130679220:10,256,131A/G—likely benign
rs76995082120:10,256,143G/A—uncertain significance
rs1154785820:10,256,145C/T—likely benign
rs53552506420:10,256,146G/A—uncertain significance
rs1154786120:10,256,150A/G—uncertain significance
rs76928528020:10,256,151C/T—likely benign
rs20177006020:10,256,152G/A—likely benign
rs55546170020:10,256,161C/A—uncertain significance
rs37411526920:10,256,162G/A—uncertain significance
rs251477894220:10,256,163C/A—likely benign
rs206367713020:10,256,164A/C—uncertain significance
rs136436108820:10,256,165A/G—benign
rs145525664320:10,256,166T/C—likely benign
rs76033963020:10,256,186G/A—uncertain significance
rs143923161520:10,256,190G/A—likely benign
rs76599362920:10,256,196C/A—uncertain significance
rs89520120920:10,256,199G/A—likely benign
rs75333089620:10,256,200T/C—likely benign
rs127824383720:10,256,208T/G—uncertain significance
rs212300385820:10,256,212G/A—likely pathogenic
rs160073358320:10,256,218A/C—likely benign
rs75264379320:10,256,224G/A—likely benign
rs36258520:10,256,252G/T—benign
rs18492887520:10,256,321G/A—likely benign
rs11580481720:10,258,272T/C—likely benign
rs74738819420:10,258,321T/C—likely benign
rs37188344420:10,258,324A/G—likely benign
rs77626960720:10,258,328C/T—likely benign
rs251478521320:10,258,334C/T—likely pathogenic
rs14786609920:10,258,335G/T—likely benign
rs95659907920:10,258,344C/T—likely benign
rs251478528720:10,258,348C/T—uncertain significance
rs57779152120:10,258,349G/A—conflicting classifications of pathogenicity
rs134105808420:10,258,352G/A—uncertain significance
rs212301920420:10,258,353T/A—likely benign
rs141505826020:10,258,363C/A—uncertain significance
rs76292693920:10,258,365G/A—likely benign
rs76399714120:10,258,374G/C—uncertain significance
rs212301942120:10,258,376T/G—likely pathogenic
rs251478541820:10,258,377A/C—uncertain significance
rs206371495620:10,258,381A/G—likely benign
rs212301945720:10,258,382G/A—likely benign
rs37661291620:10,258,387A/G—likely benign
rs20010780920:10,258,392T/C—likely benign
rs6802161120:10,258,527G/A—benign
rs603980620:10,258,654C/A—benign
rs607771620:10,258,684A/T—benign
rs207623920:10,265,180A/T—benign
rs20155599620:10,265,352C/G—likely benign
rs55272351820:10,265,357A/G—benign
rs77417131720:10,265,360A/G—likely benign
rs212306380220:10,265,375A/G—likely pathogenic
rs212306383020:10,265,384G/C—pathogenic
rs206384267820:10,265,393A/C—uncertain significance
rs212306388920:10,265,398G/A—likely benign
rs79704487320:10,265,399G/Tmissense variantpathogenic
rs212306398420:10,265,406T/C—likely pathogenic
rs90871829920:10,265,432T/C—likely benign
rs145784835520:10,265,440G/A—likely benign
rs7926230920:10,265,597G/T—likely benign
rs610846120:10,267,270A/Gintron variant—
rs11536713320:10,273,299T/C—likely benign
rs77313174620:10,273,546C/T—likely benign
rs206403094120:10,273,574G/C—uncertain significance
rs156862392920:10,273,655C/A—uncertain significance
rs37027006820:10,273,799G/T—likely benign
rs251483452620:10,273,801T/A—likely benign
rs13807812520:10,273,805T/C—likely benign
rs212312016420:10,273,810A/G—likely benign
rs212312018420:10,273,815T/G—likely pathogenic
rs206403572820:10,273,821G/C—uncertain significance
rs212312028420:10,273,825T/C—likely benign
rs212312031720:10,273,828G/A—likely benign
rs212312033820:10,273,831A/G—likely benign
rs105126720:10,273,834G/A—likely benign
rs206403593920:10,273,842A/C—conflicting classifications of pathogenicity
rs155579428620:10,273,845T/A—pathogenic
rs212312054420:10,273,857T/C—pathogenic
rs105127320:10,273,864A/G—uncertain significance
rs160077532620:10,273,865G/A—uncertain significance
rs105127720:10,273,882G/C—likely benign
rs76305491620:10,273,901G/A—uncertain significance
rs212312098620:10,273,926A/G—uncertain significance
rs251483501420:10,273,939T/A—likely benign
rs37576449220:10,273,942C/T—benign
rs134409074420:10,273,943T/C—likely benign
rs251483502620:10,273,944G/C—likely benign
rs36299020:10,276,221A/Tintron variant—

Showing 100 of 201 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.