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/Tlikely benign
rs37514875510:18,242,251C/Guncertain significance
rs14294867810:18,242,333C/Tlikely benign
rs37336232410:18,242,344C/Auncertain significance
rs78187666010:18,242,371C/Tuncertain significance
rs78272373610:18,242,400C/Guncertain significance
rs19982898210:18,242,462A/Guncertain 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/Guncertain significance
rs78233168410:18,250,621C/Guncertain significance
rs125734555510:18,250,627G/Cuncertain significance
rs128137172610:18,250,642A/Guncertain significance
rs55180869210:18,250,901A/G
rs1226290710:18,253,092C/G
rs57484869110:18,254,437A/Guncertain significance
rs4127735210:18,254,477T/Auncertain significance
rs75715711910:18,254,539A/Cuncertain significance
rs76823156910:18,254,565T/Cuncertain significance
rs56504639710:18,254,587C/Tlikely benign
rs13923969310:18,260,610G/Cintron variant
rs708130610:18,260,748C/Aintron variant
rs13909768210:18,266,842C/Guncertain significance
rs77580747710:18,266,960C/Tuncertain significance
rs6261866910:18,270,310G/Abenign
rs14405699710:18,270,334A/Guncertain significance
rs249783210:18,271,962T/G
rs249783310:18,271,970A/Tintron variant
rs249120596610:18,276,408A/Cuncertain significance
rs11270026410:18,276,419A/Guncertain significance
rs249120610710:18,276,452T/Cuncertain significance
rs20119320710:18,276,536G/Auncertain significance
rs15068870910:18,276,556C/Tlikely benign
rs37074381610:18,280,129A/Guncertain significance
rs77003632010:18,280,137G/Cuncertain significance
rs75359413110:18,280,174T/Auncertain significance
rs14705802210:18,280,190G/Cuncertain significance
rs78037043910:18,280,227G/Cuncertain significance
rs76967260510:18,284,621A/Guncertain significance
rs147911208410:18,289,608G/Tuncertain significance
rs135334174310:18,289,722C/Auncertain significance
rs11289083710:18,293,751C/Tintron variant
rs56820282910:18,314,424G/A

Gene information from NCBI Gene. Variant classifications from ClinVar.