SETD2

SET domain containing 2, histone lysine methyltransferase

Summary

Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 2008]

Known Variants996 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2038014136	3:47,058,593	T/C	—	uncertain significance
rs2107484397	3:47,058,596	G/A	—	likely benign
rs768564000	3:47,058,618	C/T	—	conflicting classifications of pathogenicity
rs773606468	3:47,058,629	T/G	—	likely benign
rs1042058100	3:47,058,636	T/C	—	uncertain significance
rs368761115	3:47,058,653	T/G	—	likely benign
rs902794659	3:47,058,670	C/T	—	likely benign
rs1248081279	3:47,058,676	C/T	—	likely benign
rs1064795661	3:47,058,745	C/A	—	pathogenic
rs1244994348	3:47,059,146	A/G	—	likely benign
rs148499835	3:47,059,161	G/A	—	likely benign
rs772135964	3:47,059,193	G/A	—	uncertain significance
rs2107488152	3:47,059,194	G/A	—	likely benign
rs895374808	3:47,059,197	A/T	—	likely benign
rs141852778	3:47,059,214	C/T	—	conflicting classifications of pathogenicity
rs1221536539	3:47,059,215	G/A	—	likely benign
rs761150552	3:47,059,217	T/C	—	uncertain significance
rs1173846557	3:47,059,233	C/G	—	uncertain significance
rs374312905	3:47,059,239	G/A	—	likely benign
rs2385867	3:47,059,323	C/T	—	benign
rs150163751	3:47,059,331	T/A	—	likely benign
rs2290547	3:47,061,183	G/C	—	benign
rs2545376730	3:47,061,247	T/A	—	uncertain significance
rs775487978	3:47,061,307	T/C	—	likely benign
rs775780402	3:47,061,326	G/A	—	conflicting classifications of pathogenicity
rs587778667	3:47,061,329	G/A	—	not provided
rs776986628	3:47,061,334	A/C	—	likely benign
rs10510752	3:47,061,453	C/T	—	benign
rs17784127	3:47,061,700	T/C	intron variant	—
rs11707736	3:47,069,504	G/T	intron variant	—
rs6768722	3:47,079,112	G/A	—	benign
rs369951554	3:47,079,150	A/G	—	conflicting classifications of pathogenicity
rs2545412547	3:47,079,157	T/C	—	uncertain significance
rs559045162	3:47,079,160	A/G	—	uncertain significance
rs2545412573	3:47,079,163	G/A	—	uncertain significance
rs1270169187	3:47,079,174	A/G	—	likely benign
rs140828600	3:47,079,201	A/G	—	likely benign
rs760469263	3:47,079,216	G/A	—	likely benign
rs201285612	3:47,079,222	A/G	—	benign
rs751118723	3:47,079,236	T/C	—	uncertain significance
rs76132393	3:47,079,245	T/C	—	likely benign
rs2545412836	3:47,079,257	A/G	—	uncertain significance
rs2545412843	3:47,079,264	C/A	—	uncertain significance
rs375557161	3:47,079,275	G/A	—	likely benign
rs79545841	3:47,083,782	C/G	—	likely benign
rs139159960	3:47,083,998	C/T	—	likely benign
rs1575676238	3:47,084,044	C/T	—	likely benign
rs2107539392	3:47,084,079	T/C	—	uncertain significance
rs1200573511	3:47,084,102	T/C	—	uncertain significance
rs1468250923	3:47,084,121	C/T	—	uncertain significance
rs144752494	3:47,084,125	G/A	—	likely benign
rs771580579	3:47,084,146	G/C	—	likely benign
rs2039334411	3:47,084,147	G/T	—	uncertain significance
rs768154988	3:47,084,152	C/T	—	likely benign
rs149025565	3:47,084,188	A/C	—	likely benign
rs1575676472	3:47,084,195	A/G	—	likely benign
rs138535378	3:47,087,657	G/A	—	likely benign
rs144641521	3:47,087,742	G/A	—	likely benign
rs13063578	3:47,087,837	T/A	—	benign
rs78188645	3:47,087,849	A/G	—	benign
rs776056138	3:47,087,967	C/T	—	likely benign
rs2107548940	3:47,087,979	G/A	—	uncertain significance
rs894915057	3:47,087,982	G/C	—	likely benign
rs552916928	3:47,087,992	A/T	—	likely benign
rs775632004	3:47,088,002	G/T	—	uncertain significance
rs140288461	3:47,088,004	T/C	—	likely benign
rs200525700	3:47,088,007	A/G	—	benign
rs995303125	3:47,088,012	T/C	—	benign
rs145377213	3:47,088,015	T/C	—	likely benign
rs765890389	3:47,088,026	G/T	—	benign
rs199739297	3:47,088,027	C/A	—	conflicting classifications of pathogenicity
rs1024557543	3:47,088,036	G/C	—	uncertain significance
rs754588966	3:47,088,045	C/A	—	uncertain significance
rs2107549477	3:47,088,047	C/T	—	uncertain significance
rs2039539616	3:47,088,054	G/A	—	conflicting classifications of pathogenicity
rs2107549623	3:47,088,071	T/C	—	likely benign
rs2107549649	3:47,088,074	T/C	—	uncertain significance
rs749235253	3:47,088,076	C/T	—	likely benign
rs1232434419	3:47,088,093	G/C	—	uncertain significance
rs1018953967	3:47,088,094	A/T	—	uncertain significance
rs1468649782	3:47,088,096	T/C	—	uncertain significance
rs1162711197	3:47,088,105	C/A	—	conflicting classifications of pathogenicity
rs2039543267	3:47,088,106	A/G	—	likely benign
rs964769481	3:47,088,120	T/C	—	likely benign
rs776968785	3:47,088,130	A/C	—	likely benign
rs9831464	3:47,088,394	A/C	—	benign
rs62246406	3:47,097,985	G/C	—	—
rs1553683838	3:47,098,306	G/C	—	likely benign
rs374228543	3:47,098,321	G/C	—	uncertain significance
rs770500112	3:47,098,324	G/A	—	uncertain significance
rs771957568	3:47,098,328	T/C	—	uncertain significance
rs762073578	3:47,098,332	C/T	—	likely benign
rs2545459697	3:47,098,343	G/A	—	uncertain significance
rs773305513	3:47,098,357	T/C	—	uncertain significance
rs774810866	3:47,098,371	T/C	—	likely benign
rs2545459791	3:47,098,373	T/C	—	uncertain significance
rs1193656443	3:47,098,379	C/T	—	uncertain significance
rs150476239	3:47,098,389	T/C	—	likely benign
rs759219467	3:47,098,391	T/C	—	benign
rs763541766	3:47,098,405	T/A	—	benign

Showing 100 of 996 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.