TRPM6

transient receptor potential cation channel subfamily M member 6

Summary

This gene is predominantly expressed in the kidney and colon, and encodes a protein containing an ion channel domain and a protein kinase domain. It is crucial for magnesium homeostasis, and plays an essential role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Mutations in this gene are associated with hypomagnesemia with secondary hypocalcemia. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Apr 2010]

Known Variants547 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1057515626	9:77,337,512	C/T	—	uncertain significance
rs1057515627	9:77,337,532	G/C	—	uncertain significance
rs1057515628	9:77,337,615	T/G	—	uncertain significance
rs532377785	9:77,337,642	C/T	—	uncertain significance
rs192845997	9:77,337,661	G/A	—	uncertain significance
rs143290917	9:77,337,745	T/C	—	likely benign
rs779366656	9:77,337,796	T/C	—	uncertain significance
rs1322407942	9:77,337,904	T/C	—	uncertain significance
rs1057515629	9:77,338,040	C/T	—	uncertain significance
rs761376874	9:77,338,149	A/G	—	uncertain significance
rs773269259	9:77,338,226	C/T	—	uncertain significance
rs752883751	9:77,338,284	T/G	—	uncertain significance
rs190131362	9:77,338,307	G/A	—	likely benign
rs563649179	9:77,338,369	G/A	—	likely benign
rs1177503365	9:77,338,415	C/T	—	uncertain significance
rs184870782	9:77,338,445	G/A	—	benign
rs1263413323	9:77,338,457	G/A	—	uncertain significance
rs371692085	9:77,338,610	C/A	—	likely benign
rs113586292	9:77,338,616	A/G	—	benign
rs550306103	9:77,338,643	G/A	—	uncertain significance
rs1057515630	9:77,338,686	C/T	—	uncertain significance
rs1200585707	9:77,338,723	A/T	—	uncertain significance
rs545113884	9:77,338,727	T/A	—	uncertain significance
rs28660614	9:77,338,741	T/A	—	uncertain significance
rs866350903	9:77,338,742	A/T	—	uncertain significance
rs989876129	9:77,338,761	T/C	—	uncertain significance
rs1349257411	9:77,338,767	T/A	—	uncertain significance
rs1247881616	9:77,338,783	T/C	—	uncertain significance
rs1057515631	9:77,338,789	C/A	—	uncertain significance
rs1825224251	9:77,338,790	C/A	—	uncertain significance
rs1057515632	9:77,338,792	T/C	—	uncertain significance
rs144874847	9:77,338,859	T/G	—	likely benign
rs1057515633	9:77,338,978	T/C	—	uncertain significance
rs202063887	9:77,339,002	C/T	—	uncertain significance
rs1057515634	9:77,339,013	T/C	—	uncertain significance
rs1057515635	9:77,339,016	T/C	—	uncertain significance
rs1035679768	9:77,339,048	T/C	—	uncertain significance
rs1057515636	9:77,339,227	A/G	—	uncertain significance
rs11144075	9:77,339,291	T/C	—	uncertain significance
rs527880339	9:77,339,294	G/A	—	likely benign
rs1825244168	9:77,339,295	C/A	—	uncertain significance
rs561411832	9:77,339,340	C/T	—	uncertain significance
rs1056108119	9:77,339,349	G/A	—	uncertain significance
rs1024110997	9:77,339,367	T/C	—	uncertain significance
rs141484675	9:77,339,373	T/C	—	uncertain significance
rs530527539	9:77,339,421	G/A	—	uncertain significance
rs369609402	9:77,339,433	G/C	—	likely benign
rs1057515637	9:77,339,447	C/T	—	uncertain significance
rs1433858736	9:77,339,468	A/G	—	uncertain significance
rs1237651358	9:77,339,481	G/A	—	uncertain significance
rs189939361	9:77,339,488	G/A	—	uncertain significance
rs752611015	9:77,339,534	G/C	—	uncertain significance
rs1390362404	9:77,339,537	G/A	—	uncertain significance
rs1825254729	9:77,339,543	C/T	—	uncertain significance
rs139342869	9:77,339,565	C/T	—	benign
rs150039342	9:77,339,566	G/A	—	conflicting classifications of pathogenicity
rs1825256215	9:77,339,590	G/A	—	uncertain significance
rs1563984198	9:77,339,599	A/C	—	uncertain significance
rs769242388	9:77,339,608	T/G	—	uncertain significance
rs938008725	9:77,339,618	A/C	—	uncertain significance
rs201794531	9:77,339,627	T/G	—	uncertain significance
rs773846287	9:77,339,629	A/T	—	uncertain significance
rs767038418	9:77,339,631	C/T	—	likely benign
rs753724429	9:77,339,668	A/G	—	uncertain significance
rs746674627	9:77,339,670	G/A	—	uncertain significance
rs376014459	9:77,339,677	A/C	—	likely benign
rs79983737	9:77,339,697	A/T	—	benign
rs514209	9:77,342,815	G/C	—	benign
rs514348	9:77,342,863	A/T	—	benign
rs2274527	9:77,342,894	G/A	—	benign
rs748626753	9:77,343,156	C/T	—	uncertain significance
rs145398520	9:77,343,157	G/A	—	uncertain significance
rs2489758127	9:77,343,165	G/A	—	likely benign
rs559742806	9:77,343,173	G/A	—	uncertain significance
rs55889089	9:77,343,230	A/T	—	uncertain significance
rs1396571168	9:77,343,235	G/C	—	uncertain significance
rs143161006	9:77,343,238	G/T	—	uncertain significance
rs1264867879	9:77,343,239	G/A	—	uncertain significance
rs771254698	9:77,347,609	T/C	—	likely benign
rs1479831683	9:77,347,613	G/A	—	uncertain significance
rs776005961	9:77,347,643	T/C	—	uncertain significance
rs187823226	9:77,347,667	C/T	—	likely benign
rs35804026	9:77,352,340	T/C	intron variant	—
rs77196129	9:77,353,165	T/C	—	benign
rs506973	9:77,353,300	T/C	—	benign
rs146677759	9:77,353,353	G/A	—	uncertain significance
rs1446407268	9:77,353,364	T/C	—	uncertain significance
rs143047185	9:77,353,390	C/T	—	likely benign
rs757763880	9:77,353,414	G/T	—	likely benign
rs747860468	9:77,353,448	C/T	—	uncertain significance
rs757918637	9:77,353,463	A/G	—	uncertain significance
rs771049990	9:77,353,468	C/G	—	uncertain significance
rs771877503	9:77,353,475	A/G	—	uncertain significance
rs775096237	9:77,353,484	C/A	—	uncertain significance
rs483352743	9:77,353,499	T/C	—	uncertain significance
rs750923733	9:77,353,542	A/G	—	likely benign
rs1825766138	9:77,353,547	C/T	—	likely benign
rs4468002	9:77,354,230	G/A	—	likely benign
rs35618857	9:77,354,303	T/C	—	likely benign
rs371990882	9:77,354,369	C/T	—	conflicting classifications of pathogenicity

Showing 100 of 547 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.