SLC25A26

solute carrier family 25 member 26

Summary

This gene is a member of the mitochondrial carrier family which includes nuclear-encoded transporters localized on the inner mitochondrial membranes. Members of the family transport important small molecules across the mitochondrial inner membrane. This protein is involved in the transport of S-adenosylmethionine (SAM) into the mitochondria. Mutations in this gene are associated with combined oxidative phosphorylation deficiency 28. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2017]

Known Variants145 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs36162483	3:66,270,951	G/C	—	benign
rs36137829	3:66,270,961	C/T	—	benign
rs146641884	3:66,270,969	G/A	—	benign
rs141331547	3:66,271,169	T/A	—	benign
rs137909944	3:66,271,247	C/G	—	benign
rs36139379	3:66,271,298	C/A	—	benign
rs370822424	3:66,271,323	C/G	—	likely benign
rs149071055	3:66,271,371	G/T	—	likely benign
rs148202338	3:66,271,473	C/T	—	likely benign
rs371220823	3:66,271,508	G/A	—	uncertain significance
rs531650947	3:66,271,524	G/T	—	uncertain significance
rs189816697	3:66,271,553	G/A	—	likely benign
rs781798317	3:66,271,554	G/A	splice region variant	pathogenic
rs141327145	3:66,271,590	C/T	—	benign
rs147424344	3:66,271,601	C/T	—	likely benign
rs138215846	3:66,271,603	T/C	—	benign
rs36196715	3:66,271,617	G/C	—	benign
rs193253916	3:66,271,745	C/T	—	likely benign
rs36174201	3:66,271,784	C/G	—	benign
rs36145851	3:66,275,312	T/C	intron variant	—
rs185555999	3:66,286,658	G/A	—	benign
rs36197639	3:66,286,677	G/A	—	benign
rs139788303	3:66,286,697	T/G	—	likely benign
rs149338577	3:66,286,748	A/G	—	likely benign
rs36169063	3:66,286,808	A/G	—	benign
rs188291587	3:66,286,831	G/T	—	benign
rs180760147	3:66,286,832	C/G	—	benign
rs1483149274	3:66,286,964	A/G	—	conflicting classifications of pathogenicity
rs782542054	3:66,286,976	G/A	—	likely benign
rs373565149	3:66,286,979	A/G	—	likely benign
rs782189005	3:66,287,003	A/G	—	uncertain significance
rs1187474452	3:66,287,022	A/G	—	uncertain significance
rs2471335976	3:66,287,042	T/A	—	uncertain significance
rs146159281	3:66,287,056	G/A	—	benign
rs374377154	3:66,287,082	T/C	—	uncertain significance
rs782711829	3:66,287,089	G/A	—	uncertain significance
rs1312131978	3:66,287,090	C/T	—	likely benign
rs533493130	3:66,287,091	G/A	—	uncertain significance
rs1186102990	3:66,287,106	A/G	—	likely benign
rs148761079	3:66,287,134	T/C	—	likely benign
rs142408865	3:66,287,334	A/C	—	benign
rs150944873	3:66,287,363	C/A	—	benign
rs147780924	3:66,287,417	T/C	—	benign
rs2311298	3:66,293,480	G/A	—	benign
rs28589457	3:66,293,582	T/C	—	benign
rs1316228094	3:66,293,626	G/T	—	likely pathogenic
rs868946716	3:66,293,632	G/A	—	uncertain significance
rs3772197	3:66,293,688	A/G	—	benign
rs150226514	3:66,293,701	A/G	—	likely benign
rs138128704	3:66,293,721	C/G	—	likely benign
rs782311010	3:66,293,723	C/G	—	uncertain significance
rs146026411	3:66,293,734	G/A	—	uncertain significance
rs66918103	3:66,293,766	T/C	—	benign
rs1678091	3:66,293,786	A/G	—	benign
rs1678092	3:66,293,851	T/C	—	benign
rs78864804	3:66,312,168	T/C	—	benign
rs2306495	3:66,312,318	C/A	—	benign
rs774532404	3:66,312,475	G/A	—	uncertain significance
rs869025314	3:66,312,479	C/T	missense variant	pathogenic
rs767839051	3:66,312,487	A/C	—	uncertain significance
rs2107283343	3:66,312,536	C/T	—	uncertain significance
rs139071338	3:66,312,541	A/G	—	uncertain significance
rs891775469	3:66,312,544	A/G	—	uncertain significance
rs780816066	3:66,312,551	A/C	—	uncertain significance
rs367902266	3:66,312,560	C/A	—	uncertain significance
rs1421470735	3:66,312,575	A/T	—	uncertain significance
rs200331952	3:66,312,590	T/C	—	likely benign
rs9830590	3:66,312,839	G/A	—	likely benign
rs61298322	3:66,313,600	C/A	—	benign
rs368595173	3:66,313,736	C/T	—	likely benign
rs371644160	3:66,313,737	G/A	—	likely benign
rs374894859	3:66,313,749	G/C	—	likely benign
rs545353680	3:66,313,767	G/T	—	likely benign
rs755461919	3:66,313,774	C/T	—	pathogenic
rs779427588	3:66,313,775	G/A	—	uncertain significance
rs199592553	3:66,313,781	A/G	—	uncertain significance
rs869025313	3:66,313,793	T/G	missense variant	pathogenic
rs141974918	3:66,313,795	T/G	—	benign
rs6770372	3:66,314,113	C/T	—	benign
rs139843727	3:66,316,022	A/C	intron variant	—
rs782725	3:66,325,074	A/T	intron variant	—
rs545822396	3:66,325,217	A/C	—	—
rs73129917	3:66,326,785	G/C	intron variant	—
rs782722	3:66,338,718	A/T	downstream gene variant	—
rs149197151	3:66,387,391	G/A	regulatory region variant	—
rs62243212	3:66,389,550	T/G	regulatory region variant	—
rs78301035	3:66,390,633	T/G	intron variant	—
rs332355	3:66,396,480	G/T	—	benign
rs528592411	3:66,396,776	T/C	—	likely benign
rs1333979762	3:66,396,781	T/C	—	likely benign
rs2471990177	3:66,396,784	T/C	—	likely benign
rs1177785824	3:66,396,819	G/C	—	uncertain significance
rs332354	3:66,396,845	G/A	—	benign
rs73833476	3:66,413,051	A/G	—	benign
rs332387	3:66,413,111	G/T	—	benign
rs332386	3:66,413,130	T/A	—	benign
rs75118606	3:66,413,203	C/G	—	likely benign
rs2472094952	3:66,413,286	C/T	—	likely benign
rs751973282	3:66,413,332	G/T	—	uncertain significance
rs2472095599	3:66,413,339	G/A	—	uncertain significance

Showing 100 of 145 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.