SNCA

synuclein alpha

Summary

Alpha-synuclein is a member of the synuclein family, which also includes beta- and gamma-synuclein. Synucleins are abundantly expressed in the brain and alpha- and beta-synuclein inhibit phospholipase D2 selectively. SNCA may serve to integrate presynaptic signaling and membrane trafficking. Defects in SNCA have been implicated in the pathogenesis of Parkinson disease. SNCA peptides are a major component of amyloid plaques in the brains of patients with Alzheimer's disease. Alternatively spliced transcripts encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2016]

Known Variants164 total

rsidPosition (GRCh37)AllelesClassClinVar
rs8860597114:90,645,278G/T—uncertain significance
rs9247169624:90,645,383C/T—uncertain significance
rs8860597124:90,645,449G/A—uncertain significance
rs5295532594:90,645,459T/A—likely benign
rs5508956884:90,645,488G/A—likely benign
rs3758157144:90,645,502T/G—likely benign
rs8860597134:90,645,510G/A—uncertain significance
rs1838024414:90,645,549C/T—benign
rs5518867764:90,645,552G/T—likely benign
rs10457224:90,645,671T/A—benign
rs5556979334:90,645,673C/T—likely benign
rs38570534:90,645,674C/T—benign
rs17247217524:90,645,732C/T—uncertain significance
rs5530703444:90,645,742A/G—uncertain significance
rs7660044594:90,645,796T/C—uncertain significance
rs1861898624:90,645,883G/A—benign
rs5617173034:90,645,886A/G—uncertain significance
rs7650294564:90,646,063T/A—uncertain significance
rs8860597144:90,646,077C/T—uncertain significance
rs9987740824:90,646,101C/T—uncertain significance
rs170160724:90,646,102G/A—benign
rs17247618784:90,646,261A/G—uncertain significance
rs8860597154:90,646,454T/C—uncertain significance
rs13053498884:90,646,468G/A—uncertain significance
rs8860597194:90,646,469T/A—uncertain significance
rs8672722124:90,646,487G/A—uncertain significance
rs5277984134:90,646,490A/G—conflicting classifications of pathogenicity
rs3773566384:90,646,492C/A—uncertain significance
rs14022616554:90,646,494A/T—uncertain significance
rs2002683194:90,646,499A/G—uncertain significance
rs2013516094:90,646,503G/A—uncertain significance
rs8860597234:90,646,701T/A—uncertain significance
rs5320254774:90,646,732A/C—conflicting classifications of pathogenicity
rs5505212824:90,646,746A/G—uncertain significance
rs1827224354:90,646,777A/C—benign
rs9257205524:90,646,856T/C—uncertain significance
rs1921790634:90,646,885C/T—benign
rs3561654:90,646,886G/Adownstream gene variantbenign
rs5774900904:90,646,919A/T—likely benign
rs1506450394:90,646,927C/T—uncertain significance
rs8860597254:90,647,149A/C—uncertain significance
rs351017234:90,647,186G/T—benign
rs17248806244:90,647,275A/G—uncertain significance
rs170160744:90,647,278G/A—benign
rs8860597264:90,647,314T/A—uncertain significance
rs1832046104:90,647,315G/T—uncertain significance
rs8860597274:90,647,502C/A—uncertain significance
rs5535995184:90,647,530C/T—benign
rs8860597284:90,647,568C/T—uncertain significance
rs797266804:90,647,606C/T—benign
rs100247434:90,647,640A/C—likely benign
rs1445118864:90,647,663G/A—likely benign
rs17249206074:90,647,665G/C—uncertain significance
rs7486313424:90,647,667T/C—uncertain significance
rs1453045674:90,647,702G/A—likely benign
rs7784437524:90,647,723G/C—uncertain significance
rs766426364:90,647,794G/A—likely benign
rs25302908764:90,647,801T/C—uncertain significance
rs25302909834:90,647,806C/A—likely benign
rs21100651324:90,647,811C/G—uncertain significance
rs21100651584:90,647,818T/C—uncertain significance
rs25302911074:90,647,825A/G—uncertain significance
rs3710140924:90,647,827T/C—likely benign
rs68420934:90,647,865T/C—benign
rs1442747524:90,650,309A/G—likely benign
rs5463665324:90,650,334T/G—likely benign
rs3707979234:90,650,338C/G—likely benign
rs7508998744:90,650,353G/T—uncertain significance
rs1910556374:90,650,354C/T—likely benign
rs3675569744:90,650,360A/G—likely benign
rs13585667254:90,650,365C/A—uncertain significance
rs2000561494:90,650,368C/T—uncertain significance
rs10242880014:90,650,376G/A—uncertain significance
rs1451383724:90,650,386G/T—uncertain significance
rs7708048784:90,650,393T/G—uncertain significance
rs7635273394:90,650,441G/A—likely benign
rs76843184:90,655,003T/Cintron variant—
rs38220864:90,664,794C/Tregulatory region variant—
rs3561684:90,674,431G/T——
rs38570594:90,675,238A/T——
rs27369904:90,678,541G/T——
rs39101054:90,682,571A/Gintron variant—
rs3561864:90,705,364A/Gintron variant—
rs27370294:90,711,770T/Cintron variant—
rs37754424:90,715,231C/Tintron variant—
rs8942784:90,734,535T/Gintron variant—
rs100052334:90,743,331C/Tintron variantbenign
rs352085444:90,743,377C/T—likely benign
rs7585136694:90,743,389A/G—likely benign
rs21104601394:90,743,390G/A—likely benign
rs1389694704:90,743,405A/G—conflicting classifications of pathogenicity
rs5485238994:90,743,416T/C—likely benign
rs3863523634:90,743,452C/A—uncertain significance
rs17372244834:90,743,454C/T—likely benign
rs21104604844:90,743,456C/G—uncertain significance
rs7751798954:90,743,457C/T—likely benign
rs5684365894:90,743,460T/C—likely benign
rs1494019684:90,743,478T/A—conflicting classifications of pathogenicity
rs7741135874:90,743,486C/T—uncertain significance
rs1447588714:90,743,487C/T—conflicting classifications of pathogenicity

Showing 100 of 164 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.