SLC1A2

solute carrier family 1 member 2

Summary

This gene encodes a member of a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Improper regulation of this gene is thought to be associated with several neurological disorders. Alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2017]

Known Variants402 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1076812211:35,280,852A/G3 prime UTR variant—
rs1074233911:35,281,100A/G——
rs157021611:35,282,334T/Cregulatory region variant—
rs103396302411:35,282,447C/T—likely benign
rs249758109711:35,282,450A/G—likely benign
rs76688569011:35,282,451C/T—conflicting classifications of pathogenicity
rs76017228811:35,282,452G/A—likely benign
rs213458760011:35,282,457C/G—uncertain significance
rs249758126911:35,282,459A/T—likely benign
rs57095469611:35,282,465T/C—likely benign
rs249758133911:35,282,467C/T—uncertain significance
rs11494530311:35,282,468C/T—benign
rs37062499211:35,282,472A/G—benign
rs14960971511:35,282,473C/T—uncertain significance
rs20145495011:35,282,479A/T—uncertain significance
rs89220313511:35,282,482C/T—conflicting classifications of pathogenicity
rs54131984311:35,282,483G/A—likely benign
rs195038492711:35,282,486T/C—likely benign
rs249758170911:35,282,488A/G—uncertain significance
rs78132415511:35,282,495A/G—likely benign
rs37460707611:35,282,496T/C—likely benign
rs76992543511:35,282,507A/C—likely benign
rs213458806711:35,282,510T/C—likely benign
rs74954940811:35,282,530C/T—likely benign
rs74617809111:35,287,050G/A—likely benign
rs77249012511:35,287,058T/C—likely benign
rs36896832611:35,287,065G/A—likely benign
rs142174449711:35,287,069T/C—uncertain significance
rs127069495211:35,287,079A/G—uncertain significance
rs159140222811:35,287,083A/G—uncertain significance
rs195046731011:35,287,084T/A—uncertain significance
rs14435705611:35,287,087A/G—uncertain significance
rs76348847011:35,287,088C/T—uncertain significance
rs89708478911:35,287,089T/A—likely benign
rs37227680411:35,287,093A/T—likely benign
rs195046777111:35,287,101G/T—uncertain significance
rs249761732811:35,287,102T/C—likely pathogenic
rs14879527511:35,287,105G/C—likely benign
rs55466938111:35,287,111T/C—likely benign
rs14160026811:35,287,115C/T—uncertain significance
rs18269375711:35,287,117C/G—likely benign
rs249761776411:35,287,126G/T—uncertain significance
rs249761778811:35,287,127A/G—uncertain significance
rs18547503711:35,287,128G/A—likely benign
rs249761807111:35,287,144T/C—benign
rs125468164211:35,287,153T/G—uncertain significance
rs117624779311:35,287,162A/G—uncertain significance
rs77227542611:35,287,163T/C—benign
rs37213633511:35,287,177G/C—uncertain significance
rs76929429511:35,287,178T/C—uncertain significance
rs136888587311:35,287,186A/G—uncertain significance
rs76272001611:35,287,189T/C—likely benign
rs249761904311:35,287,194A/C—benign
rs75937974511:35,287,201C/T—uncertain significance
rs249761920011:35,287,204T/C—uncertain significance
rs119619669411:35,287,208G/C—uncertain significance
rs54344382711:35,287,217T/C—uncertain significance
rs119050216911:35,287,220T/C—uncertain significance
rs77915506811:35,287,221A/T—uncertain significance
rs75065065011:35,287,222T/C—uncertain significance
rs213461132411:35,287,231G/T—uncertain significance
rs96762136011:35,287,234T/G—benign
rs36958026611:35,287,244G/A—uncertain significance
rs146430520711:35,287,245A/G—likely benign
rs132797582011:35,287,246T/C—uncertain significance
rs37427031211:35,287,247A/G—uncertain significance
rs3553874411:35,287,251T/A—benign
rs249762005411:35,287,254C/A—likely benign
rs129223581811:35,287,259C/T—uncertain significance
rs37551510511:35,287,266A/T—likely benign
rs159140268311:35,287,269G/A—likely benign
rs76891110111:35,287,287T/C—likely benign
rs249762055611:35,287,296C/T—benign
rs249762062511:35,287,308G/A—likely benign
rs145351036911:35,287,311G/C—likely benign
rs1103304811:35,289,043C/Tregulatory region variant—
rs1083636011:35,289,240C/G——
rs157021511:35,289,683A/Tintron variant—
rs18277947111:35,297,191G/Aregulatory region variant—
rs383879611:35,299,335———
rs249770640211:35,302,396C/A—likely benign
rs19986006311:35,302,401C/G—benign
rs185061033211:35,302,437C/G—likely benign
rs104211511:35,302,439G/A—likely benign
rs118017115511:35,302,440G/A—likely benign
rs75366403311:35,302,454T/C—likely benign
rs249770697711:35,302,462C/T—likely benign
rs74862812911:35,302,466C/T—uncertain significance
rs1692723911:35,302,467G/A—likely benign
rs710294911:35,302,470T/C—benign
rs249770712611:35,302,476A/T—likely benign
rs57541977111:35,302,482G/A—benign
rs159142183111:35,302,484G/C—uncertain significance
rs13980477311:35,302,500G/A—likely benign
rs213468610011:35,302,514T/C—uncertain significance
rs14971493311:35,302,518C/T—likely benign
rs77196981011:35,302,519G/A—likely benign
rs76068348311:35,302,521G/A—likely benign
rs76418250111:35,302,523C/T—uncertain significance
rs117817931511:35,302,524G/A—likely benign

Showing 100 of 402 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.