SLC37A4

solute carrier family 37 member 4

Summary

This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009]

Known Variants782 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1100611:118,895,202A/G—benign
rs88604774411:118,895,260G/C—uncertain significance
rs101408366611:118,895,282A/G—uncertain significance
rs88604774511:118,895,322G/A—uncertain significance
rs88604774611:118,895,337A/G—uncertain significance
rs18396517111:118,895,357A/G—uncertain significance
rs129905231011:118,895,416G/A—uncertain significance
rs88604774711:118,895,481C/A—uncertain significance
rs86758082711:118,895,482G/A—uncertain significance
rs830111:118,895,495C/G—benign
rs56477517411:118,895,589G/A—uncertain significance
rs78222572811:118,895,603C/T—benign
rs122126410311:118,895,608C/T—uncertain significance
rs97830116911:118,895,609C/T—likely benign
rs36924369811:118,895,613A/C—uncertain significance
rs37305074111:118,895,615T/G—uncertain significance
rs78242257011:118,895,619T/C—uncertain significance
rs249700918411:118,895,621C/T—likely benign
rs148372478611:118,895,623C/G—uncertain significance
rs14997479411:118,895,624T/G—conflicting classifications of pathogenicity
rs124575200811:118,895,627G/A—uncertain significance
rs78213774311:118,895,629C/T—likely benign
rs3487137711:118,895,632C/T—benign
rs249700939111:118,895,633T/C—uncertain significance
rs3501054111:118,895,635G/A—likely benign
rs78214302611:118,895,639A/T—uncertain significance
rs143894488811:118,895,640C/A—uncertain significance
rs78184957511:118,895,642C/A—uncertain significance
rs213462626611:118,895,643G/A—pathogenic
rs213462627911:118,895,645C/G—uncertain significance
rs155519034711:118,895,646C/T—uncertain significance
rs89091379211:118,895,652T/C—uncertain significance
rs126821539911:118,895,653G/A—likely benign
rs78259441111:118,895,654G/A—uncertain significance
rs37614099011:118,895,658G/A—uncertain significance
rs249700967211:118,895,661T/C—uncertain significance
rs213462636011:118,895,662G/A—likely benign
rs12190897911:118,895,667G/Astop gainedpathogenic
rs213462640411:118,895,668T/C—likely benign
rs155519035911:118,895,669A/G—uncertain significance
rs20070332111:118,895,670G/A—conflicting classifications of pathogenicity
rs78223309411:118,895,673G/A—uncertain significance
rs78192205611:118,895,675A/G—uncertain significance
rs155519036711:118,895,680G/A—likely benign
rs88604774811:118,895,685C/T—benign
rs819269611:118,895,686C/T—benign
rs159210787711:118,895,689G/A—likely benign
rs86322421211:118,895,690C/G—uncertain significance
rs78210684011:118,895,694C/G—uncertain significance
rs104372170911:118,895,695C/T—likely benign
rs78275304411:118,895,696G/A—uncertain significance
rs249701001711:118,895,698A/T—pathogenic
rs78181828011:118,895,699C/G—uncertain significance
rs78207448811:118,895,701A/G—likely benign
rs155519037411:118,895,702A/G—uncertain significance
rs78190979811:118,895,704C/A—likely benign
rs155519037811:118,895,709C/G—uncertain significance
rs213462667811:118,895,713C/G—likely benign
rs155519038111:118,895,715C/T—uncertain significance
rs155519038811:118,895,725T/C—likely benign
rs90277592711:118,895,731C/T—pathogenic
rs213462676511:118,895,732C/T—pathogenic
rs249701017811:118,895,733A/C—uncertain significance
rs78255298911:118,895,734A/T—uncertain significance
rs103519934011:118,895,735C/T—uncertain significance
rs155519039411:118,895,737G/A—likely benign
rs123462843611:118,895,740G/A—likely benign
rs19976488811:118,895,742G/A—conflicting classifications of pathogenicity
rs194351101211:118,895,743C/T—likely benign
rs155519039511:118,895,745T/C—uncertain significance
rs146419906711:118,895,746G/C—likely benign
rs78248030311:118,895,751T/C—uncertain significance
rs194351145611:118,895,752G/A—likely benign
rs144049852011:118,895,755G/T—uncertain significance
rs78260381811:118,895,756C/G—uncertain significance
rs194351187911:118,895,758G/A—likely benign
rs155519039911:118,895,760A/G—uncertain significance
rs213462701011:118,895,761G/C—likely benign
rs155519040011:118,895,762G/A—uncertain significance
rs115709365411:118,895,768C/G—uncertain significance
rs96237766111:118,895,775G/A—likely benign
rs249701050811:118,895,776A/G—likely benign
rs78266549311:118,895,780C/T—uncertain significance
rs78225529911:118,895,781C/T—uncertain significance
rs20071358611:118,895,782G/A—likely benign
rs78196256911:118,895,783C/T—uncertain significance
rs19330289711:118,895,784C/T—not provided
rs194351394011:118,895,786A/G—uncertain significance
rs78220267511:118,895,787C/T—likely pathogenic
rs173197159011:118,895,789G/T—uncertain significance
rs141606945211:118,895,790T/C—likely benign
rs78232356711:118,895,792A/C—likely benign
rs101722921711:118,895,793G/T—likely benign
rs155519040411:118,895,794G/A—uncertain significance
rs159210819811:118,895,795G/A—likely benign
rs194351510311:118,895,796G/C—likely benign
rs132803120411:118,895,797G/T—likely benign
rs213462731611:118,895,798A/T—likely benign
rs155519040511:118,895,800A/G—likely benign
rs249701072011:118,895,801G/C—likely benign

Showing 100 of 782 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.