SLC13A3

solute carrier family 13 member 3

Summary

Mammalian sodium-dicarboxylate cotransporters transport succinate and other Krebs cycle intermediates. They fall into 2 categories based on their substrate affinity: low affinity and high affinity. Both the low- and high-affinity transporters play an important role in the handling of citrate by the kidneys. The protein encoded by this gene represents the high-affinity form. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been characterized yet. [provided by RefSeq, Jul 2008]

Known Variants175 total

rsidPosition (GRCh37)AllelesClassClinVar
rs43011420:45,186,397T/G——
rs251652789120:45,188,666G/A—uncertain significance
rs54146927820:45,188,672G/A—uncertain significance
rs251652795620:45,188,674A/T—uncertain significance
rs20187798820:45,188,713T/C—uncertain significance
rs20120473020:45,188,722T/A—uncertain significance
rs37759681620:45,188,725A/C—uncertain significance
rs206191806420:45,188,733C/T—uncertain significance
rs128135139720:45,188,740G/A—uncertain significance
rs75108855120:45,188,750C/T—uncertain significance
rs206191863320:45,188,779T/G—uncertain significance
rs214606816720:45,188,811C/G—likely benign
rs156890487220:45,188,828C/T—pathogenic
rs18870067620:45,188,833C/T—uncertain significance
rs74592992720:45,188,834G/A—uncertain significance
rs20239920:45,191,804A/T——
rs76379343020:45,192,033T/C—likely benign
rs251653638320:45,192,047A/G—uncertain significance
rs54631816220:45,192,083G/A—likely benign
rs76370546120:45,192,114G/A—uncertain significance
rs76147791720:45,192,139C/T—uncertain significance
rs75881548520:45,192,142C/T—uncertain significance
rs14745215920:45,192,152A/C—uncertain significance
rs13988731320:45,192,167G/C—benign
rs77015659020:45,192,172G/A—uncertain significance
rs74574373020:45,192,178T/G—likely benign
rs251653727820:45,192,209G/A—likely benign
rs74686216120:45,194,884G/A—likely pathogenic
rs206197917720:45,194,899A/G—uncertain significance
rs20239120:45,194,904C/G—benign
rs56444758920:45,194,905G/A—uncertain significance
rs77485355320:45,194,936C/T—uncertain significance
rs13835465320:45,194,945C/T—uncertain significance
rs251654443020:45,194,954G/A—uncertain significance
rs14912370120:45,194,970G/A—benign
rs76076653320:45,194,974G/A—uncertain significance
rs14928292220:45,194,978C/T—likely benign
rs101915379520:45,194,991G/A—likely benign
rs77419671020:45,194,997C/A—uncertain significance
rs74553797020:45,195,002C/T—uncertain significance
rs15120465920:45,195,018C/T—likely benign
rs811697320:45,195,033C/T—likely benign
rs55221507120:45,195,034G/A—likely benign
rs86835097620:45,195,045C/T—likely benign
rs20239320:45,195,738T/G——
rs86367220:45,199,926C/G——
rs269487720:45,202,637A/Gintron variant—
rs77649783820:45,204,233G/A—likely benign
rs188089820:45,204,266A/G—benign
rs76593463620:45,204,272T/C—likely benign
rs74858137420:45,204,303G/A—uncertain significance
rs100864459120:45,204,309G/A—uncertain significance
rs75779642420:45,212,203C/A—likely benign
rs74602718420:45,212,233G/T—uncertain significance
rs54812375520:45,212,251C/T—likely benign
rs78047129820:45,212,261A/T—uncertain significance
rs251658347820:45,212,267A/T—uncertain significance
rs14641312020:45,212,283C/T—uncertain significance
rs20016287420:45,212,284G/A—likely benign
rs37426377620:45,212,286C/T—uncertain significance
rs14081273020:45,212,287G/A—likely benign
rs11370078020:45,212,296A/G—likely benign
rs18807938720:45,216,680G/A—benign
rs76554185120:45,216,683T/C—likely benign
rs128780728420:45,216,704T/C—uncertain significance
rs37398817220:45,216,709G/A—uncertain significance
rs251659544920:45,216,710A/G—uncertain significance
rs75883029120:45,216,713C/T—uncertain significance
rs136280350920:45,216,736C/T—uncertain significance
rs26760596620:45,216,743C/T—uncertain significance
rs14585099220:45,216,744G/A—uncertain significance
rs36798946420:45,216,757G/A—likely benign
rs3539301320:45,216,784A/T—benign
rs77820505620:45,216,795C/T—uncertain significance
rs19996197620:45,217,796T/C—conflicting classifications of pathogenicity
rs36940433520:45,217,813G/A—likely benign
rs76757699520:45,217,821A/T—uncertain significance
rs119832039720:45,217,825T/C—likely benign
rs102880148720:45,217,828C/T—likely benign
rs14333484120:45,217,841C/T—uncertain significance
rs19116155120:45,217,858A/G—benign
rs117558798120:45,217,865C/G—uncertain significance
rs14835855520:45,221,044T/A—uncertain significance
rs14155497020:45,221,055C/G—benign
rs77076572420:45,221,059C/T—uncertain significance
rs14617291020:45,221,060G/A—benign
rs53347195020:45,221,072G/A—benign
rs130680716720:45,221,085C/G—uncertain significance
rs18149258120:45,221,106A/G—uncertain significance
rs251660739020:45,221,128A/G—uncertain significance
rs76737902420:45,221,138G/A—likely benign
rs76368532620:45,221,149C/T—uncertain significance
rs13920911920:45,221,150G/A—benign
rs13981911620:45,221,159C/T—likely benign
rs37579207720:45,221,180C/T—likely benign
rs36953876120:45,224,787C/A—likely benign
rs76475909520:45,224,800T/C—uncertain significance
rs206231026720:45,224,804C/T—likely benign
rs74946196620:45,224,813C/A—likely benign
rs212269380520:45,224,823T/C—uncertain significance

Showing 100 of 175 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.