SLC30A10

solute carrier family 30 member 10

Summary

This gene is highly expressed in the liver and is inducible by manganese. Its protein product appears to be critical in maintaining manganese levels, and has higher specificity for manganese than zinc. Loss of function mutations appear to result in a pleomorphic phenotype, including dystonia and adult-onset parkinsonism. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]

Known Variants217 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs535541750	1:220,087,603	A/G	—	likely benign
rs2275706	1:220,087,703	C/T	—	uncertain significance
rs115277486	1:220,087,846	G/A	—	likely benign
rs143476893	1:220,087,944	C/T	—	uncertain significance
rs2275707	1:220,088,047	A/C	—	benign
rs750495262	1:220,088,161	C/T	—	uncertain significance
rs972827342	1:220,088,325	T/A	—	uncertain significance
rs1230409448	1:220,088,339	A/C	—	uncertain significance
rs747429986	1:220,088,394	G/A	—	uncertain significance
rs1659501427	1:220,088,435	C/T	—	uncertain significance
rs1009314082	1:220,088,476	C/T	—	uncertain significance
rs138571819	1:220,088,515	A/G	—	benign
rs886046000	1:220,088,552	T/C	—	uncertain significance
rs1383718158	1:220,088,619	A/G	—	uncertain significance
rs917343883	1:220,088,674	C/G	—	uncertain significance
rs2231736	1:220,088,676	G/C	—	likely benign
rs748772564	1:220,088,721	C/T	—	uncertain significance
rs148203711	1:220,088,800	C/T	—	conflicting classifications of pathogenicity
rs138457091	1:220,088,801	G/A	—	uncertain significance
rs144010718	1:220,088,812	A/G	—	conflicting classifications of pathogenicity
rs774446472	1:220,088,822	T/C	—	uncertain significance
rs149443882	1:220,088,841	G/T	—	uncertain significance
rs369343170	1:220,088,846	T/C	—	uncertain significance
rs372826011	1:220,088,850	C/T	—	uncertain significance
rs148517155	1:220,088,851	G/A	—	likely benign
rs763073204	1:220,088,862	G/A	—	likely benign
rs1422455305	1:220,088,877	A/T	—	uncertain significance
rs1659514322	1:220,088,889	C/A	—	uncertain significance
rs761771918	1:220,088,893	T/C	—	likely benign
rs755664863	1:220,088,897	C/T	—	uncertain significance
rs368970531	1:220,088,901	C/T	—	uncertain significance
rs146096083	1:220,088,902	G/A	—	likely benign
rs767250708	1:220,088,912	C/T	—	uncertain significance
rs1571788975	1:220,088,923	A/G	—	likely benign
rs769974391	1:220,088,929	G/C	—	uncertain significance
rs1273946507	1:220,088,931	A/G	—	uncertain significance
rs113588126	1:220,088,936	T/A	—	uncertain significance
rs775374396	1:220,088,940	G/A	—	likely benign
rs144098238	1:220,088,954	T/C	—	uncertain significance
rs79106013	1:220,088,956	G/T	—	conflicting classifications of pathogenicity
rs2527852387	1:220,088,959	C/T	—	likely benign
rs544895572	1:220,088,977	G/A	—	likely benign
rs2527852517	1:220,088,978	T/A	—	uncertain significance
rs375331656	1:220,088,979	G/A	—	uncertain significance
rs202169262	1:220,088,997	C/G	—	uncertain significance
rs754692918	1:220,088,998	G/T	—	likely benign
rs377640108	1:220,088,999	G/A	—	uncertain significance
rs757737775	1:220,089,000	G/C	—	uncertain significance
rs781687046	1:220,089,001	G/A	—	conflicting classifications of pathogenicity
rs281860292	1:220,089,014	—	—	pathogenic
rs1349393962	1:220,089,025	G/T	—	likely benign
rs1659520346	1:220,089,042	G/A	—	uncertain significance
rs780212700	1:220,089,064	G/C	—	uncertain significance
rs1207616870	1:220,089,069	T/C	—	uncertain significance
rs762014945	1:220,089,081	G/A	—	uncertain significance
rs564303811	1:220,089,085	C/T	—	likely benign
rs922315420	1:220,089,092	T/C	—	uncertain significance
rs375288113	1:220,089,118	A/G	—	likely benign
rs1305423202	1:220,089,119	T/C	—	uncertain significance
rs202111121	1:220,089,131	G/T	—	conflicting classifications of pathogenicity
rs1659526183	1:220,089,150	G/A	—	uncertain significance
rs2527853243	1:220,089,160	G/T	—	uncertain significance
rs2527853257	1:220,089,168	C/T	—	uncertain significance
rs886046001	1:220,089,181	G/A	—	uncertain significance
rs765468456	1:220,089,194	T/G	—	uncertain significance
rs281860291	1:220,089,203	A/G	missense variant	not provided
rs1659528560	1:220,089,209	G/A	—	uncertain significance
rs772219560	1:220,089,211	A/G	—	likely benign
rs1304113547	1:220,089,218	T/C	—	uncertain significance
rs1659529526	1:220,089,228	C/T	—	uncertain significance
rs773025168	1:220,089,240	T/C	—	uncertain significance
rs770740586	1:220,089,243	G/A	missense variant	pathogenic
rs759514230	1:220,089,255	C/T	—	uncertain significance
rs149301485	1:220,089,284	T/C	—	uncertain significance
rs766759426	1:220,089,294	T/C	—	likely benign
rs116597246	1:220,089,328	G/A	—	likely benign
rs2231735	1:220,089,333	A/C	—	likely benign
rs2231734	1:220,089,352	A/C	—	benign
rs2231732	1:220,089,370	T/G	—	likely benign
rs6694129	1:220,091,299	C/T	—	benign
rs4846606	1:220,091,318	A/G	—	benign
rs2527859132	1:220,091,579	A/C	—	likely benign
rs1261107351	1:220,091,589	C/G	—	likely benign
rs372264976	1:220,091,609	T/C	—	uncertain significance
rs773938384	1:220,091,613	G/A	—	likely benign
rs2527859260	1:220,091,629	A/G	—	uncertain significance
rs2527859272	1:220,091,632	T/G	—	uncertain significance
rs281860290	1:220,091,633	G/A	stop gained	likely pathogenic
rs760071039	1:220,091,634	T/C	—	likely benign
rs34097842	1:220,091,648	C/T	—	uncertain significance
rs376599710	1:220,091,656	T/C	—	uncertain significance
rs769688652	1:220,091,667	G/A	—	likely benign
rs2527859440	1:220,091,684	T/C	—	uncertain significance
rs1223498729	1:220,091,690	T/C	—	uncertain significance
rs2527859478	1:220,091,699	G/A	—	uncertain significance
rs2527859552	1:220,091,725	C/T	—	uncertain significance
rs761372248	1:220,091,732	A/T	—	uncertain significance
rs113370181	1:220,091,739	C/T	—	likely benign
rs371800776	1:220,091,740	G/A	—	uncertain significance
rs1280130208	1:220,091,751	C/T	—	likely benign

Showing 100 of 217 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.