SLC7A7

solute carrier family 7 member 7

Summary

The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]

Known Variants592 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14357598114:23,242,547G/A—conflicting classifications of pathogenicity
rs88605040414:23,242,573C/G—uncertain significance
rs124665973614:23,242,584C/G—uncertain significance
rs75434025214:23,242,592C/T—uncertain significance
rs55593463214:23,242,594C/T—uncertain significance
rs57441412414:23,242,614T/G—uncertain significance
rs54548920514:23,242,678A/C—likely benign
rs14814946714:23,242,685T/C—likely benign
rs203851612014:23,242,705G/A—uncertain significance
rs37510835014:23,242,803G/A—uncertain significance
rs105752400514:23,242,811G/C—likely benign
rs77744608814:23,242,820T/C—likely benign
rs250182871014:23,242,822G/A—likely benign
rs106104014:23,242,828C/T—benign
rs213938194114:23,242,831G/C—likely benign
rs74577956414:23,242,834A/G—likely benign
rs105549959414:23,242,835T/C—uncertain significance
rs13850642714:23,242,839G/A—uncertain significance
rs213938198514:23,242,840T/C—likely benign
rs122106315814:23,242,844T/A—uncertain significance
rs76233527514:23,242,850A/G—uncertain significance
rs156643838414:23,242,858T/G—likely benign
rs76568260414:23,242,861A/G—conflicting classifications of pathogenicity
rs75100766414:23,242,866C/T—uncertain significance
rs159494194214:23,242,874A/G—uncertain significance
rs118891906614:23,242,879T/C—likely benign
rs99878737214:23,242,887C/G—uncertain significance
rs213938216014:23,242,888T/A—likely benign
rs38683381014:23,242,890A/Gmissense variantpathogenic
rs75160125914:23,242,892A/G—uncertain significance
rs250182950714:23,242,894A/T—likely pathogenic
rs38683380914:23,242,895——pathogenic
rs75516303614:23,242,895C/T—uncertain significance
rs134322747814:23,242,897C/G—likely benign
rs78154682614:23,242,898A/G—uncertain significance
rs213938222014:23,242,902C/T—uncertain significance
rs203852604014:23,242,903C/T—likely benign
rs77363599414:23,242,904T/C—uncertain significance
rs76096319914:23,242,906G/A—likely benign
rs74836060614:23,242,912C/A—uncertain significance
rs75709579914:23,242,919G/C—uncertain significance
rs20199341114:23,242,924C/T—likely benign
rs203852744514:23,242,929C/T—uncertain significance
rs131087828414:23,242,933G/A—likely benign
rs74583265814:23,242,943A/G—likely benign
rs213938238014:23,242,945T/C—uncertain significance
rs1156842214:23,242,980A/G—benign
rs1156842614:23,243,090G/T—likely benign
rs20012598914:23,243,123T/C—likely benign
rs213938279714:23,243,124T/G—likely benign
rs76684552914:23,243,127G/T—likely benign
rs128631076414:23,243,130T/G—likely benign
rs137752729614:23,243,131G/A—likely benign
rs250183168414:23,243,132C/T—likely benign
rs213938283114:23,243,133A/G—likely benign
rs20176673814:23,243,134C/T—likely benign
rs55233117214:23,243,135G/A—likely benign
rs250183175214:23,243,140A/G—pathogenic
rs135400460414:23,243,141C/G—pathogenic
rs37315610614:23,243,146G/A—likely benign
rs140708510214:23,243,147A/G—uncertain significance
rs250183186214:23,243,152T/A—likely benign
rs38683380814:23,243,154G/Astop gainedpathogenic
rs75015768514:23,243,157G/A—uncertain significance
rs118278001714:23,243,164C/T—likely benign
rs14273920014:23,243,165G/A—uncertain significance
rs20155065514:23,243,166G/A—uncertain significance
rs74690761914:23,243,168C/T—uncertain significance
rs38683380714:23,243,169G/Astop gainedpathogenic
rs19952252714:23,243,171T/A—uncertain significance
rs250183222014:23,243,179T/C—likely benign
rs250183226414:23,243,182C/T—likely benign
rs75539658414:23,243,183A/T—uncertain significance
rs38683380614:23,243,184——pathogenic
rs14738372814:23,243,190T/C—likely benign
rs13941528514:23,243,191G/C—likely benign
rs159494251914:23,243,197G/A—likely benign
rs38683380414:23,243,200G/Tstop gainedpathogenic
rs14385313414:23,243,209C/G—likely benign
rs159494255214:23,243,211G/A—likely benign
rs77118980614:23,243,212G/C—likely benign
rs134618514514:23,243,215T/C—likely benign
rs250183274614:23,243,218G/C—likely benign
rs213938318414:23,243,221G/A—likely benign
rs14163282814:23,243,222G/A—uncertain significance
rs15057651714:23,243,226T/C—uncertain significance
rs213938321914:23,243,227G/A—likely benign
rs250183290614:23,243,230A/G—likely benign
rs145995001314:23,243,231A/G—uncertain significance
rs75272130914:23,243,235C/T—uncertain significance
rs76089878514:23,243,236G/A—likely benign
rs76423132414:23,243,238T/C—uncertain significance
rs250183303614:23,243,239G/A—likely benign
rs75827024814:23,243,241G/A—uncertain significance
rs136344714114:23,243,242G/A—likely benign
rs142364116914:23,243,248G/A—likely benign
rs250183317714:23,243,249A/C—uncertain significance
rs20161121514:23,243,250T/C—conflicting classifications of pathogenicity
rs213938335314:23,243,251A/G—likely benign
rs75155574914:23,243,255T/C—uncertain significance

Showing 100 of 592 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.