SLC25A13

solute carrier family 25 member 13

Summary

This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

Known Variants656 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5503234817:95,749,594G/C—uncertain significance
rs7690908407:95,749,622A/C—uncertain significance
rs5741190697:95,749,711G/A—conflicting classifications of pathogenicity
rs7705639447:95,749,753A/G—uncertain significance
rs3731539957:95,749,774C/T—uncertain significance
rs5753759237:95,749,881G/A—uncertain significance
rs1477166877:95,749,933C/T—conflicting classifications of pathogenicity
rs8860625237:95,749,986T/C—uncertain significance
rs8860625247:95,749,996A/G—uncertain significance
rs8860625257:95,750,173C/A—uncertain significance
rs5308697047:95,750,193G/A—uncertain significance
rs14277394787:95,750,223C/A—uncertain significance
rs5298358317:95,750,312A/G—uncertain significance
rs1448778977:95,750,328T/C—likely benign
rs5378862717:95,750,410C/T—uncertain significance
rs7553103277:95,750,431C/T—uncertain significance
rs5428288457:95,750,463G/A—uncertain significance
rs7598652347:95,750,505A/G—uncertain significance
rs24855388977:95,750,518A/G—likely benign
rs15627735887:95,750,527T/C—likely benign
rs24855390007:95,750,533A/G—likely benign
rs9774559997:95,750,536T/C—likely benign
rs7785450927:95,750,545C/T—likely benign
rs21163801377:95,750,548G/A—likely benign
rs24855391287:95,750,554A/G—likely benign
rs17914890017:95,750,559G/A—likely benign
rs24855392157:95,750,560G/A—likely benign
rs8792555017:95,750,573T/C—uncertain significance
rs24855393957:95,750,575G/T—no classification for the single variant
rs24855394067:95,750,576T/C—uncertain significance
rs17914904767:95,750,583T/C—uncertain significance
rs7573178447:95,750,586C/G—conflicting classifications of pathogenicity
rs17914912137:95,750,587T/G—likely benign
rs7684970287:95,750,588G/A—uncertain significance
rs24855395527:95,750,593T/C—likely benign
rs12506768957:95,750,596A/C—likely benign
rs21163805087:95,750,607G/A—likely benign
rs7696105977:95,750,614G/A—likely benign
rs15543353517:95,750,615C/T—uncertain significance
rs1489621107:95,750,621A/G—conflicting classifications of pathogenicity
rs1513303137:95,750,622C/G—uncertain significance
rs21163807057:95,750,623G/A—likely benign
rs17914937407:95,750,626A/G—likely benign
rs14666628877:95,750,627T/C—uncertain significance
rs7610357917:95,750,628C/A—likely benign
rs7643884597:95,750,635C/T—likely benign
rs5734207167:95,750,636G/A—uncertain significance
rs21163808267:95,750,637G/A—uncertain significance
rs355398077:95,750,647G/A—likely benign
rs2019313827:95,750,662A/G—likely benign
rs7605720567:95,750,677T/G—likely benign
rs7511990347:95,750,686T/C—likely benign
rs2014684577:95,750,701G/T—likely benign
rs11963487797:95,750,948G/A—likely benign
rs24855412907:95,750,949A/G—likely benign
rs17915106477:95,750,950T/C—likely benign
rs17915108767:95,750,954G/T—likely benign
rs24855413197:95,750,955C/G—likely benign
rs3705466717:95,750,956A/G—likely benign
rs21163824807:95,750,958G/A—likely benign
rs7660445367:95,750,966C/A—likely pathogenic
rs10538615387:95,750,984G/A—conflicting classifications of pathogenicity
rs7547130317:95,750,985T/C—uncertain significance
rs8939060657:95,750,990C/A—uncertain significance
rs21163826307:95,750,991C/T—likely pathogenic
rs5481942767:95,750,994C/T—uncertain significance
rs803387297:95,750,995G/Astop gainedpathogenic
rs17915130997:95,750,996C/T—likely benign
rs7558231407:95,750,999T/C—likely benign
rs21163827447:95,751,002C/T—likely benign
rs803387277:95,751,007C/Tmissense variantpathogenic
rs7659196677:95,751,008G/T—pathogenic
rs7571772797:95,751,011A/T—conflicting classifications of pathogenicity
rs13141716947:95,751,016G/T—uncertain significance
rs24855416927:95,751,019A/G—likely benign
rs17915148137:95,751,020A/G—likely benign
rs15627742767:95,751,029A/C—uncertain significance
rs7699938717:95,751,038T/A—likely benign
rs13231747347:95,751,039G/T—pathogenic
rs1219085327:95,751,045C/Tmissense variantpathogenic
rs12610588977:95,751,046G/A—pathogenic
rs3677701437:95,751,054C/T—uncertain significance
rs21163832637:95,751,064A/G—likely benign
rs24855420037:95,751,066A/C—likely benign
rs7590649107:95,751,069T/C—likely benign
rs117621367:95,751,071G/A—likely benign
rs7522275967:95,751,078C/T—likely benign
rs21163833757:95,751,079A/G—likely benign
rs14453752767:95,751,080C/A—likely benign
rs3755550607:95,751,081A/G—likely benign
rs24855422177:95,751,083A/G—likely benign
rs3681633327:95,751,084T/C—likely benign
rs7486761907:95,751,085A/G—likely benign
rs7788000457:95,751,086T/C—likely benign
rs24855424637:95,751,133A/G—likely benign
rs24855424737:95,751,135C/T—likely benign
rs17915216877:95,751,137C/T—likely benign
rs7780397637:95,751,138A/G—likely benign
rs7496377507:95,751,143T/A—likely benign
rs24855425627:95,751,149A/G—likely pathogenic

Showing 100 of 656 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.