SLC25A12

solute carrier family 25 member 12

Summary

This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be associated with autism, and mutations in this gene may also be a cause of global cerebral hypomyelination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]

Known Variants418 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs189758490	2:172,640,790	G/A	—	uncertain significance
rs368874798	2:172,641,779	T/C	—	likely benign
rs768492510	2:172,641,788	T/A	—	uncertain significance
rs772577546	2:172,641,792	T/A	—	uncertain significance
rs761108884	2:172,641,801	C/G	—	uncertain significance
rs78523632	2:172,641,812	G/A	—	uncertain significance
rs1355923599	2:172,641,820	C/T	—	likely benign
rs764606563	2:172,641,823	A/G	—	likely benign
rs758268906	2:172,641,840	T/G	—	uncertain significance
rs2105829416	2:172,641,842	A/T	—	uncertain significance
rs2545147307	2:172,641,844	T/C	—	likely benign
rs751410102	2:172,641,847	C/T	—	likely benign
rs754742634	2:172,641,848	G/A	—	uncertain significance
rs2545147330	2:172,641,852	G/A	—	uncertain significance
rs749429197	2:172,641,858	G/A	—	uncertain significance
rs757378622	2:172,641,868	G/A	—	likely benign
rs778800333	2:172,641,873	C/T	—	uncertain significance
rs199526039	2:172,641,874	G/C	—	uncertain significance
rs772765206	2:172,641,878	C/T	—	uncertain significance
rs369901246	2:172,641,886	C/T	—	likely benign
rs747419483	2:172,641,887	G/A	—	uncertain significance
rs200391757	2:172,641,897	C/T	—	uncertain significance
rs113486658	2:172,641,898	G/A	—	likely benign
rs2545147470	2:172,641,906	A/G	—	uncertain significance
rs772668725	2:172,641,912	C/T	—	uncertain significance
rs762432729	2:172,641,913	G/A	—	likely benign
rs952197382	2:172,641,918	G/A	—	uncertain significance
rs2105829539	2:172,641,925	G/T	—	uncertain significance
rs898014866	2:172,641,928	G/A	—	likely benign
rs1690470236	2:172,641,950	C/T	—	uncertain significance
rs1414259441	2:172,641,952	T/C	—	likely benign
rs1690470511	2:172,641,961	T/C	—	likely benign
rs2545147574	2:172,641,962	G/A	—	uncertain significance
rs1690470559	2:172,641,966	G/C	—	uncertain significance
rs2545147603	2:172,641,973	A/C	—	likely benign
rs369666236	2:172,641,978	C/T	—	uncertain significance
rs551188942	2:172,641,979	G/A	—	likely benign
rs1316820057	2:172,642,003	G/A	—	likely benign
rs542542639	2:172,644,071	G/T	—	likely benign
rs772825491	2:172,644,087	C/T	—	uncertain significance
rs2545150730	2:172,644,095	A/C	—	uncertain significance
rs762487612	2:172,644,096	A/G	—	uncertain significance
rs1690512314	2:172,644,097	T/A	—	uncertain significance
rs1446490780	2:172,644,105	C/A	—	uncertain significance
rs375819100	2:172,644,108	C/T	—	uncertain significance
rs142891505	2:172,644,122	A/G	—	likely benign
rs1363822319	2:172,644,125	A/G	—	likely benign
rs1690512788	2:172,644,126	G/A	—	uncertain significance
rs1574670497	2:172,644,131	C/T	—	uncertain significance
rs1060501189	2:172,644,139	C/T	—	uncertain significance
rs121434396	2:172,644,147	T/C	missense variant	pathogenic
rs1690513297	2:172,644,153	G/C	—	uncertain significance
rs370973358	2:172,644,160	G/T	—	likely benign
rs760496959	2:172,644,162	A/G	—	uncertain significance
rs1369539430	2:172,644,167	T/G	—	likely benign
rs765417421	2:172,644,175	A/G	—	conflicting classifications of pathogenicity
rs750636311	2:172,644,185	G/A	—	likely benign
rs2292813	2:172,644,229	T/C	intron variant	—
rs1690515930	2:172,644,285	C/T	—	likely benign
rs370060615	2:172,644,288	C/A	—	likely benign
rs377004451	2:172,644,294	C/T	—	uncertain significance
rs748887957	2:172,644,305	T/C	—	uncertain significance
rs188048899	2:172,644,306	C/T	—	likely benign
rs1368008717	2:172,644,324	G/A	—	likely benign
rs911319543	2:172,644,326	G/A	—	uncertain significance
rs530436359	2:172,644,327	C/A	—	likely benign
rs2545151227	2:172,644,329	C/T	—	uncertain significance
rs773781970	2:172,644,337	C/T	—	uncertain significance
rs1378635484	2:172,644,338	G/A	—	uncertain significance
rs1417635052	2:172,644,341	G/A	—	uncertain significance
rs1690517077	2:172,644,343	A/G	—	uncertain significance
rs745378330	2:172,644,350	T/G	—	likely benign
rs771960655	2:172,644,351	G/T	—	uncertain significance
rs775466306	2:172,644,358	T/A	—	uncertain significance
rs1332081148	2:172,644,359	C/T	—	uncertain significance
rs370935201	2:172,644,360	G/A	—	likely benign
rs1203070682	2:172,644,362	T/C	—	uncertain significance
rs2105832767	2:172,644,364	A/T	—	uncertain significance
rs145746525	2:172,644,378	C/T	—	likely benign
rs142912356	2:172,644,389	C/T	—	conflicting classifications of pathogenicity
rs767946235	2:172,644,390	G/A	—	likely benign
rs1690518291	2:172,644,392	G/A	—	uncertain significance
rs1690518407	2:172,644,398	C/T	—	uncertain significance
rs753205346	2:172,644,405	C/G	—	likely benign
rs2105832837	2:172,644,412	G/C	—	uncertain significance
rs1056421102	2:172,644,419	T/C	—	uncertain significance
rs756455673	2:172,644,424	T/C	—	uncertain significance
rs1553469156	2:172,644,425	C/T	—	likely pathogenic
rs778051864	2:172,644,427	G/A	—	uncertain significance
rs1690518844	2:172,644,432	G/A	—	likely benign
rs748942976	2:172,644,437	C/T	—	uncertain significance
rs1690519309	2:172,644,470	A/G	—	likely benign
rs771572577	2:172,644,472	C/G	—	likely benign
rs1690519504	2:172,644,477	T/C	—	likely benign
rs2545156514	2:172,647,946	A/T	—	likely benign
rs1466033458	2:172,647,949	A/G	—	likely benign
rs754257699	2:172,647,950	T/A	—	likely benign
rs1574673699	2:172,647,951	T/G	—	likely benign
rs1334325649	2:172,647,956	G/A	—	uncertain significance
rs2105837445	2:172,647,962	T/C	—	uncertain significance

Showing 100 of 418 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.