SIAE

sialic acid acetylesterase

Summary

This gene encodes an enzyme which removes 9-O-acetylation modifications from sialic acids. Mutations in this gene are associated with susceptibility to autoimmune disease 6. Multiple transcript variants encoding different isoforms, found either in the cytosol or in the lysosome, have been found for this gene.[provided by RefSeq, Feb 2011]

Known Variants328 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs762731994	11:124,506,875	G/A	—	uncertain significance
rs1317477504	11:124,506,877	A/G	—	likely benign
rs1942754853	11:124,506,884	T/A	—	uncertain significance
rs2496873857	11:124,506,899	A/C	—	uncertain significance
rs2496874008	11:124,506,927	T/G	—	uncertain significance
rs745823916	11:124,506,928	G/T	—	likely benign
rs143258969	11:124,506,937	T/C	—	benign
rs780579758	11:124,506,940	G/A	—	likely benign
rs747470616	11:124,506,943	A/G	—	likely benign
rs200855729	11:124,506,947	T/C	—	uncertain significance
rs781746246	11:124,506,955	T/G	—	uncertain significance
rs769411422	11:124,506,964	C/T	—	uncertain significance
rs7941327	11:124,506,967	C/T	—	benign
rs748949092	11:124,506,968	G/A	—	uncertain significance
rs770660147	11:124,506,970	G/A	—	likely benign
rs2496874414	11:124,506,976	A/G	—	likely benign
rs140354193	11:124,506,979	A/G	—	likely benign
rs767336791	11:124,506,983	C/T	—	uncertain significance
rs376857712	11:124,506,984	G/A	—	uncertain significance
rs2496874478	11:124,506,989	G/A	—	uncertain significance
rs1444961789	11:124,506,994	C/T	—	likely benign
rs765363693	11:124,506,996	C/T	—	uncertain significance
rs150382361	11:124,507,003	A/G	—	likely benign
rs1186440421	11:124,507,005	G/A	—	uncertain significance
rs758718405	11:124,507,014	C/T	—	uncertain significance
rs7941523	11:124,507,019	G/A	—	benign
rs143668140	11:124,507,034	T/C	—	uncertain significance
rs2496874768	11:124,507,040	G/A	—	uncertain significance
rs188195886	11:124,507,044	C/A	—	uncertain significance
rs770537556	11:124,507,046	G/A	—	uncertain significance
rs201702369	11:124,507,052	A/C	—	uncertain significance
rs372062245	11:124,507,054	A/T	—	likely benign
rs2496874918	11:124,507,064	A/G	—	uncertain significance
rs1942762367	11:124,507,068	A/G	—	uncertain significance
rs1239354600	11:124,507,071	T/A	—	uncertain significance
rs747106590	11:124,507,074	A/T	—	uncertain significance
rs972604088	11:124,507,076	C/G	—	uncertain significance
rs766694488	11:124,507,077	G/A	—	uncertain significance
rs147161431	11:124,507,079	T/C	—	uncertain significance
rs919369105	11:124,507,094	G/A	—	uncertain significance
rs2496875036	11:124,507,095	A/C	—	uncertain significance
rs755230410	11:124,507,097	A/C	—	uncertain significance
rs767937574	11:124,507,098	T/G	—	uncertain significance
rs550505825	11:124,507,108	G/A	—	likely benign
rs2496875154	11:124,507,114	T/C	—	likely benign
rs1942763644	11:124,507,116	A/C	—	likely benign
rs764574428	11:124,508,422	C/T	—	likely benign
rs1236000858	11:124,508,436	A/C	—	uncertain significance
rs202195003	11:124,508,457	T/G	—	uncertain significance
rs746800236	11:124,508,459	T/C	—	likely benign
rs768637533	11:124,508,467	C/T	—	uncertain significance
rs190144348	11:124,508,475	T/A	—	uncertain significance
rs748108384	11:124,508,479	G/A	—	uncertain significance
rs774599983	11:124,508,484	T/C	—	uncertain significance
rs1456012346	11:124,508,493	T/C	—	uncertain significance
rs181772922	11:124,508,500	G/A	—	likely benign
rs117548122	11:124,508,502	C/T	—	benign
rs1340434125	11:124,508,511	G/A	—	uncertain significance
rs2496879430	11:124,508,512	C/T	—	uncertain significance
rs761097909	11:124,508,518	G/T	—	uncertain significance
rs201877149	11:124,508,547	A/G	—	uncertain significance
rs766047951	11:124,508,558	C/A	—	uncertain significance
rs2496879658	11:124,508,560	T/C	—	uncertain significance
rs527559371	11:124,508,563	C/T	—	uncertain significance
rs2496879683	11:124,508,565	C/A	—	uncertain significance
rs376576221	11:124,508,578	C/T	—	uncertain significance
rs552372846	11:124,508,580	C/A	—	uncertain significance
rs144420048	11:124,508,581	G/A	—	uncertain significance
rs768960927	11:124,508,588	C/T	—	likely benign
rs373597474	11:124,508,598	C/T	—	likely benign
rs142442221	11:124,508,605	C/T	—	uncertain significance
rs1366403804	11:124,508,617	T/G	—	uncertain significance
rs200445560	11:124,508,623	G/A	—	uncertain significance
rs767318977	11:124,508,640	G/A	—	likely benign
rs1942794281	11:124,508,645	G/A	—	likely benign
rs2496882670	11:124,509,594	A/T	—	likely benign
rs748501578	11:124,509,606	C/T	—	uncertain significance
rs777881887	11:124,509,617	C/T	—	likely benign
rs773707778	11:124,509,618	G/T	—	uncertain significance
rs2496882728	11:124,509,620	G/C	—	uncertain significance
rs146397917	11:124,509,622	C/G	—	uncertain significance
rs773703064	11:124,509,623	T/G	—	uncertain significance
rs752462371	11:124,509,629	A/G	—	likely benign
rs2496882810	11:124,509,632	G/C	—	likely benign
rs753761206	11:124,509,646	C/T	—	uncertain significance
rs201332360	11:124,509,651	A/T	—	uncertain significance
rs940569554	11:124,509,652	T/C	—	uncertain significance
rs144430729	11:124,509,660	T/C	—	uncertain significance
rs2496883005	11:124,509,680	G/A	—	likely benign
rs749579541	11:124,509,684	T/C	—	uncertain significance
rs377298089	11:124,509,688	C/G	—	uncertain significance
rs78879979	11:124,509,689	G/A	—	benign
rs1942814632	11:124,509,692	G/A	—	likely benign
rs1942814863	11:124,509,704	A/T	—	uncertain significance
rs139734968	11:124,509,708	C/T	—	uncertain significance
rs35451312	11:124,509,710	A/G	—	benign
rs771710413	11:124,509,711	C/T	—	uncertain significance
rs956977113	11:124,509,712	G/A	—	uncertain significance
rs200225018	11:124,509,713	G/A	—	likely benign
rs760427753	11:124,509,714	A/G	—	uncertain significance

Showing 100 of 328 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.