SLC5A2

solute carrier family 5 member 2

Summary

This gene encodes a member of the sodium glucose cotransporter family which are sodium-dependent glucose transport proteins. The encoded protein is the major cotransporter involved in glucose reabsorption in the kidney. Mutations in this gene are associated with renal glucosuria. Two transcript variants, one protein-coding and one not, have been found for this gene. [provided by RefSeq, Feb 2015]

Known Variants167 total

rsidPosition (GRCh37)AllelesClassClinVar
rs76892265516:31,494,461G/A—uncertain significance
rs76974625616:31,494,476G/A—uncertain significance
rs56424998316:31,494,483C/T—uncertain significance
rs14061792416:31,494,509G/C—uncertain significance
rs11405046116:31,494,517T/C—benign
rs1164605416:31,495,671G/C—benign
rs20212983416:31,495,976C/G—likely benign
rs39812280116:31,495,978C/Tregulatory region variantpathogenic
rs208248122016:31,496,019C/T—uncertain significance
rs254488087716:31,496,030T/C—uncertain significance
rs20158641016:31,496,045C/T—uncertain significance
rs7657732816:31,496,057T/G—uncertain significance
rs74674684116:31,496,064C/T—uncertain significance
rs75054204516:31,496,167A/G—uncertain significance
rs76290527516:31,496,168T/A—uncertain significance
rs75581237116:31,496,195C/A—uncertain significance
rs88603785016:31,496,206G/Amissense variantpathogenic
rs39812280216:31,496,235C/Amissense variantpathogenic
rs208248399916:31,496,236G/C—uncertain significance
rs75595505316:31,497,051C/T—uncertain significance
rs20036965816:31,497,052G/A—likely benign
rs20210850416:31,497,096A/G—uncertain significance
rs77130747216:31,497,117C/T—uncertain significance
rs88605196016:31,497,135G/A—uncertain significance
rs76857923416:31,497,140C/A—uncertain significance
rs19392081816:31,497,141G/A—uncertain significance
rs208249070816:31,497,149G/A—uncertain significance
rs14587404316:31,497,152C/T—uncertain significance
rs56492953116:31,497,153G/A—conflicting classifications of pathogenicity
rs137807628216:31,497,162G/A—uncertain significance
rs74615968716:31,497,176G/A—uncertain significance
rs14655222116:31,497,197A/C—uncertain significance
rs36922151616:31,497,488A/T—uncertain significance
rs74906512716:31,497,489A/T—pathogenic
rs144979016716:31,497,499G/A—uncertain significance
rs76719866616:31,497,506G/A—conflicting classifications of pathogenicity
rs26760706716:31,497,522——pathogenic
rs129404444816:31,497,525A/G—conflicting classifications of pathogenicity
rs37613573816:31,497,553C/T—uncertain significance
rs13880374816:31,497,590G/A—uncertain significance
rs381300716:31,497,808A/T—benign
rs124731805116:31,498,665C/T—uncertain significance
rs254488420516:31,498,668A/G—uncertain significance
rs100112704516:31,498,685G/T—uncertain significance
rs75831854516:31,498,726G/A—uncertain significance
rs77998424616:31,498,727G/C—uncertain significance
rs36754866816:31,498,852C/T—likely benign
rs14595753316:31,498,868G/A—uncertain significance
rs139831477916:31,498,878G/T—uncertain significance
rs120212523216:31,498,892T/C—uncertain significance
rs13879553116:31,498,899G/A—conflicting classifications of pathogenicity
rs36870619016:31,498,953G/A—uncertain significance
rs137791647416:31,498,962A/G—uncertain significance
rs103996709916:31,498,971G/A—uncertain significance
rs18810510116:31,498,984C/T—likely benign
rs122161700316:31,499,038C/A—uncertain significance
rs75345582816:31,499,067G/A—likely pathogenic
rs20022814216:31,499,085G/A—conflicting classifications of pathogenicity
rs75207231416:31,499,087G/T—likely benign
rs77827382816:31,499,359G/C—uncertain significance
rs105535551016:31,499,363T/C—uncertain significance
rs134569953416:31,499,383G/A—uncertain significance
rs127617480816:31,499,432T/C—uncertain significance
rs76456302716:31,499,441C/A—uncertain significance
rs77923303416:31,499,455A/G—uncertain significance
rs77999335516:31,499,480G/A—uncertain significance
rs76852361516:31,499,481C/T—uncertain significance
rs134997935716:31,499,508C/T—uncertain significance
rs37770496216:31,499,700G/A—likely benign
rs76654816516:31,499,713C/T—conflicting classifications of pathogenicity
rs75510110916:31,499,718G/A—uncertain significance
rs134852919216:31,499,724C/A—uncertain significance
rs146839047616:31,499,757G/A—uncertain significance
rs14841016616:31,499,784C/T—likely pathogenic
rs208252057616:31,499,817G/A—uncertain significance
rs36845787016:31,499,939G/A—likely benign
rs53405716016:31,499,943G/C—uncertain significance
rs93990904516:31,499,946T/C—uncertain significance
rs76186329416:31,499,950C/T—uncertain significance
rs14162769416:31,499,958T/C—uncertain significance
rs214262943816:31,499,966G/C—uncertain significance
rs37160509216:31,499,967T/C—uncertain significance
rs75215740416:31,499,976C/T—uncertain significance
rs77944159616:31,499,985T/C—uncertain significance
rs254488741316:31,499,986G/A—uncertain significance
rs90764354116:31,500,074G/A—uncertain significance
rs119834093216:31,500,078T/C—uncertain significance
rs53764388816:31,500,082G/T—uncertain significance
rs208252542016:31,500,087T/A—uncertain significance
rs18310355416:31,500,088G/A—uncertain significance
rs55437214116:31,500,094G/A—likely pathogenic
rs254488804116:31,500,208G/A—uncertain significance
rs15054673216:31,500,217A/G—conflicting classifications of pathogenicity
rs88605196116:31,500,227T/C—uncertain significance
rs156739082616:31,500,229T/C—uncertain significance
rs12191862116:31,500,240G/Astop gainedpathogenic
rs77328971316:31,500,265G/T—likely pathogenic
rs76810448216:31,500,273G/C—uncertain significance
rs19962601716:31,500,276C/G—likely benign
rs208252926116:31,500,286A/C—uncertain significance

Showing 100 of 167 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.