SLC39A13

solute carrier family 39 member 13

Summary

This gene encodes a member of the LIV-1 subfamily of the ZIP transporter family. The encoded transmembrane protein functions as a zinc transporter. Mutations in this gene have been associated with the spondylocheiro dysplastic form of Ehlers-Danlos syndrome. Alternate transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]

Known Variants278 total

rsidPosition (GRCh37)AllelesClassClinVar
rs6189743111:47,427,667T/A——
rs1103922111:47,427,739C/Tupstream gene variant—
rs710772611:47,429,245T/G——
rs53884517011:47,430,189G/C—likely benign
rs55206064611:47,430,190G/T—likely benign
rs92003387011:47,430,216G/T—uncertain significance
rs793733111:47,430,458T/C—benign
rs249591314811:47,430,469T/C—uncertain significance
rs7979356911:47,431,290T/G—benign
rs1182164611:47,431,303A/G—likely benign
rs14034695711:47,431,510C/T—likely benign
rs75381211:47,431,529G/A—benign
rs7859872711:47,431,565G/A—benign
rs155513450811:47,431,620G/T—likely benign
rs155513452011:47,431,622C/A—likely benign
rs77957037811:47,431,668G/T—uncertain significance
rs76859286611:47,431,676A/G—uncertain significance
rs115947721711:47,431,677T/C—uncertain significance
rs55602306911:47,431,680C/T—uncertain significance
rs74800556411:47,431,681G/A—likely benign
rs14816566711:47,431,683G/T—uncertain significance
rs159587734911:47,431,684C/T—likely benign
rs77572870511:47,431,696C/T—likely benign
rs6199593811:47,431,700C/T—uncertain significance
rs6189743211:47,431,703A/G—likely benign
rs134790808411:47,431,714C/T—likely benign
rs215329067111:47,431,717G/A—uncertain significance
rs14084492111:47,431,723C/A—likely benign
rs201051911:47,431,728A/G—benign
rs75121015111:47,431,731G/A—uncertain significance
rs249593197511:47,431,738G/C—likely benign
rs75455803311:47,431,740G/T—uncertain significance
rs37468066511:47,431,749C/T—uncertain significance
rs139881770611:47,431,750G/A—likely benign
rs215329085911:47,431,753C/T—likely benign
rs75596904911:47,431,754C/T—uncertain significance
rs77771907711:47,431,756C/T—likely benign
rs14993022911:47,431,757C/T—conflicting classifications of pathogenicity
rs77083926811:47,431,758G/A—uncertain significance
rs77591876111:47,431,761G/A—uncertain significance
rs36879670711:47,431,763C/T—conflicting classifications of pathogenicity
rs3574141211:47,431,764A/G—benign
rs76241364711:47,431,773C/T—uncertain significance
rs76559527511:47,431,774G/A—likely benign
rs77357927311:47,431,776C/T—uncertain significance
rs20142563111:47,431,777G/A—conflicting classifications of pathogenicity
rs98932760111:47,431,778G/A—uncertain significance
rs209599124111:47,431,779C/T—uncertain significance
rs76670127711:47,431,784C/T—uncertain significance
rs75453869911:47,431,785G/A—uncertain significance
rs249593346411:47,431,786C/T—likely benign
rs56365271511:47,431,794A/G—uncertain significance
rs52929952411:47,431,798G/A—likely benign
rs249593377211:47,431,801A/G—likely benign
rs249593405711:47,431,808T/C—uncertain significance
rs215329123911:47,431,814G/C—uncertain significance
rs76872070011:47,431,828C/T—likely benign
rs20072604511:47,431,829G/A—uncertain significance
rs156566043811:47,431,830G/C—uncertain significance
rs36851944011:47,431,836G/A—uncertain significance
rs98398355111:47,431,856T/C—uncertain significance
rs3498669511:47,431,861C/T—likely benign
rs12143436311:47,431,866G/Amissense variantpathogenic
rs75366596811:47,431,867T/A—conflicting classifications of pathogenicity
rs14029883811:47,431,879G/A—uncertain significance
rs209599195711:47,431,885C/T—likely benign
rs131443327511:47,431,894C/T—likely benign
rs76366322311:47,431,899C/T—uncertain significance
rs14530950011:47,431,900G/A—likely benign
rs75472949411:47,431,910A/G—uncertain significance
rs129137756311:47,431,915C/T—likely benign
rs131701879511:47,431,929C/T—uncertain significance
rs89555979411:47,431,931A/G—uncertain significance
rs249593813311:47,431,936G/A—likely benign
rs36985401811:47,431,937C/T—uncertain significance
rs215329185311:47,431,944A/C—uncertain significance
rs135166448311:47,431,951G/A—uncertain significance
rs74982748411:47,431,960C/T—likely benign
rs6100076211:47,431,961G/A—benign
rs75555511:47,431,966C/T—benign
rs75555411:47,432,034G/C—benign
rs1074280211:47,432,725T/Gupstream gene variant—
rs77587286211:47,433,460G/A—likely benign
rs74668734411:47,433,470C/G—likely benign
rs159588087411:47,433,471T/C—likely benign
rs139119954011:47,433,473G/C—likely benign
rs37141474411:47,433,474T/C—conflicting classifications of pathogenicity
rs215329551411:47,433,477C/T—uncertain significance
rs37446834911:47,433,488C/T—uncertain significance
rs76290052511:47,433,489G/A—uncertain significance
rs156566280211:47,433,498A/G—uncertain significance
rs14684804211:47,433,500C/G—uncertain significance
rs75130224611:47,433,511C/T—likely benign
rs75634371811:47,433,522G/C—uncertain significance
rs20208020911:47,433,523A/G—likely benign
rs209600162111:47,433,527T/C—likely benign
rs89285923111:47,433,530G/T—uncertain significance
rs74638058011:47,433,544G/C—likely benign
rs249596050211:47,433,553G/T—likely benign
rs78028187511:47,433,556C/T—likely benign

Showing 100 of 278 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.