SLC39A12

solute carrier family 39 member 12

Summary

Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A12 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Aug 2008]

Known Variants46 total

rsidPosition (GRCh37)AllelesClassClinVar
rs2848223410:18,239,863C/Gupstream gene variant—
rs78272531710:18,242,215C/T—likely benign
rs37514875510:18,242,251C/G—uncertain significance
rs14294867810:18,242,333C/T—likely benign
rs37336232410:18,242,344C/A—uncertain significance
rs78187666010:18,242,371C/T—uncertain significance
rs78272373610:18,242,400C/G—uncertain significance
rs19982898210:18,242,462A/G—uncertain significance
rs1082790210:18,243,144G/T——
rs1082791110:18,246,730C/Aintron variant—
rs11812557610:18,247,340T/Cintron variant—
rs69115910:18,249,664T/C——
rs249133740310:18,250,612A/G—uncertain significance
rs78233168410:18,250,621C/G—uncertain significance
rs125734555510:18,250,627G/C—uncertain significance
rs128137172610:18,250,642A/G—uncertain significance
rs55180869210:18,250,901A/G——
rs1226290710:18,253,092C/G——
rs57484869110:18,254,437A/G—uncertain significance
rs4127735210:18,254,477T/A—uncertain significance
rs75715711910:18,254,539A/C—uncertain significance
rs76823156910:18,254,565T/C—uncertain significance
rs56504639710:18,254,587C/T—likely benign
rs13923969310:18,260,610G/Cintron variant—
rs708130610:18,260,748C/Aintron variant—
rs13909768210:18,266,842C/G—uncertain significance
rs77580747710:18,266,960C/T—uncertain significance
rs6261866910:18,270,310G/A—benign
rs14405699710:18,270,334A/G—uncertain significance
rs249783210:18,271,962T/G——
rs249783310:18,271,970A/Tintron variant—
rs249120596610:18,276,408A/C—uncertain significance
rs11270026410:18,276,419A/G—uncertain significance
rs249120610710:18,276,452T/C—uncertain significance
rs20119320710:18,276,536G/A—uncertain significance
rs15068870910:18,276,556C/T—likely benign
rs37074381610:18,280,129A/G—uncertain significance
rs77003632010:18,280,137G/C—uncertain significance
rs75359413110:18,280,174T/A—uncertain significance
rs14705802210:18,280,190G/C—uncertain significance
rs78037043910:18,280,227G/C—uncertain significance
rs76967260510:18,284,621A/G—uncertain significance
rs147911208410:18,289,608G/T—uncertain significance
rs135334174310:18,289,722C/A—uncertain significance
rs11289083710:18,293,751C/Tintron variant—
rs56820282910:18,314,424G/A——

Gene information from NCBI Gene. Variant classifications from ClinVar.