SLC34A1

solute carrier family 34 member 1

Summary

Enables sodium:phosphate symporter activity. Involved in several processes, including phosphate ion homeostasis; response to cadmium ion; and response to lead ion. Located in several cellular components, including apical plasma membrane; mitotic spindle; and nuclear speck. Implicated in several diseases, including Fanconi syndrome (multiple); chronic kidney disease; hereditary hypophosphatemic rickets with hypercalciuria; hypophosphatemic nephrolithiasis/osteoporosis 1; and nephrolithiasis. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants340 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7747742025:176,811,468G/Auncertain significance
rs10218159225:176,811,484C/Auncertain significance
rs8860604665:176,811,488G/Cuncertain significance
rs3685693335:176,812,732G/Cbenign
rs24810076665:176,812,742G/Auncertain significance
rs7476078495:176,812,754C/Tlikely benign
rs1939207675:176,812,755G/Auncertain significance
rs3684986205:176,812,760G/Alikely benign
rs3760268485:176,812,763G/Cuncertain significance
rs13481373405:176,812,765T/Cuncertain significance
rs1486694335:176,812,767G/Tconflicting classifications of pathogenicity
rs5564102145:176,812,786C/Guncertain significance
rs7624460185:176,812,788C/Tuncertain significance
rs14576417195:176,812,797C/Tuncertain significance
rs7657666005:176,812,798G/Aconflicting classifications of pathogenicity
rs7665851955:176,812,802G/Alikely benign
rs1468120615:176,812,814G/Tuncertain significance
rs2008939515:176,812,815C/Tstop gainedpathogenic
rs1125282305:176,812,816G/Aconflicting classifications of pathogenicity
rs1396403405:176,812,822C/Tuncertain significance
rs5703450735:176,812,823G/Alikely benign
rs1442021475:176,812,835C/Tlikely benign
rs7788036365:176,812,836G/Auncertain significance
rs7770191945:176,812,850G/Tuncertain significance
rs13640126825:176,812,852G/Alikely pathogenic
rs3761426975:176,812,856G/Auncertain significance
rs3691686495:176,812,864C/Tlikely benign
rs7737731535:176,812,871C/Alikely benign
rs1144609865:176,812,880T/Cbenign
rs738043375:176,812,882G/Cbenign
rs738043385:176,812,908A/Gbenign
rs13062998955:176,812,980C/Tlikely benign
rs7731157415:176,812,982C/Tconflicting classifications of pathogenicity
rs9336746985:176,812,983C/Tlikely benign
rs7599077075:176,813,001C/Tlikely benign
rs7678072525:176,813,003C/Tuncertain significance
rs7601994745:176,813,004G/Auncertain significance
rs7663255525:176,813,077G/Alikely benign
rs5557450045:176,813,086C/Tuncertain significance
rs12837189325:176,813,088C/Tlikely benign
rs2003279765:176,813,097A/Tlikely benign
rs617534405:176,813,101C/Tbenign
rs3771869265:176,813,122G/Tconflicting classifications of pathogenicity
rs9514260025:176,813,151G/Clikely benign
rs13729073825:176,813,157G/Alikely benign
rs7574509055:176,813,205T/Clikely benign
rs788513085:176,813,208C/Tbenign
rs24810090845:176,813,209T/Glikely benign
rs7787809965:176,813,214C/Tlikely benign
rs2005802835:176,813,218C/Abenign
rs3756937135:176,813,223G/Alikely benign
rs7478501545:176,813,228G/Auncertain significance
rs11665943575:176,813,241G/Cuncertain significance
rs5705302835:176,813,245C/Tuncertain significance
rs1457988985:176,813,246G/Alikely benign
rs7672690395:176,813,256C/Tlikely benign
rs2004936245:176,813,265G/Alikely benign
rs2015898305:176,813,268C/Tlikely benign
rs7584092285:176,813,277A/Cuncertain significance
rs14491621885:176,813,278C/Tlikely benign
rs7520293345:176,813,282T/Guncertain significance
rs7775741215:176,813,305G/Aconflicting classifications of pathogenicity
rs7720449905:176,813,327G/Tuncertain significance
rs7604738725:176,813,331G/Alikely benign
rs2016892595:176,813,359C/Tlikely benign
rs597508685:176,813,360G/Clikely benign
rs9164251465:176,813,365G/Alikely benign
rs2013111935:176,813,370G/Clikely benign
rs38120365:176,813,404T/Cbenign
rs3684384525:176,813,405G/Alikely benign
rs1897942655:176,813,419C/Tlikely benign
rs7711782955:176,813,432G/Alikely benign
rs1489768975:176,813,433C/Tconflicting classifications of pathogenicity
rs1470954855:176,813,450G/Tuncertain significance
rs2001880415:176,813,455C/Tlikely benign
rs1387197455:176,813,456G/Auncertain significance
rs5488445735:176,813,472C/Tconflicting classifications of pathogenicity
rs7579318465:176,813,473G/Alikely benign
rs1219186115:176,813,474G/Amissense variantpathogenic
rs3767302645:176,813,479C/Tlikely benign
rs13376057125:176,813,486G/Auncertain significance
rs7694097055:176,813,493G/Tmissense variantpathogenic
rs3697707605:176,813,499T/Cconflicting classifications of pathogenicity
rs7756837495:176,813,506C/Tlikely benign
rs5502488105:176,813,507G/Auncertain significance
rs24810101875:176,813,520G/Cuncertain significance
rs24810102255:176,813,536A/Glikely benign
rs5521768125:176,813,545C/Tlikely benign
rs5704630285:176,813,546G/Aconflicting classifications of pathogenicity
rs17625822255:176,813,569T/Cconflicting classifications of pathogenicity
rs594518325:176,813,769A/Gbenign
rs339214625:176,814,656G/Abenign
rs3687431885:176,814,745C/Tlikely benign
rs1148707905:176,814,746G/Alikely benign
rs1427727705:176,814,766T/Cuncertain significance
rs7776940255:176,814,767G/Aconflicting classifications of pathogenicity
rs2013874665:176,814,809C/Tlikely benign
rs3709838815:176,814,810G/Auncertain significance
rs5373433305:176,814,833C/Tlikely benign
rs1469197625:176,814,834G/Aconflicting classifications of pathogenicity

Showing 100 of 340 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.