TMEM165

transmembrane protein 165

Summary

This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts. Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation, type IIk. Knockdown of this gene's expression causes decreased sialylation in HEK cells and suggests this gene plays a role in terminal Golgi glycosylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

Known Variants148 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs116554825	4:56,261,930	C/G	—	benign
rs117926813	4:56,261,939	A/G	—	benign
rs1962453	4:56,261,999	C/T	—	benign
rs115066689	4:56,262,022	G/A	—	benign
rs886059488	4:56,262,104	C/T	—	uncertain significance
rs886059489	4:56,262,105	C/A	—	uncertain significance
rs116687212	4:56,262,210	T/C	—	benign
rs770675509	4:56,262,364	C/T	—	uncertain significance
rs764693617	4:56,262,371	T/C	—	likely benign
rs1128141	4:56,262,374	A/G	—	benign
rs1057522519	4:56,262,383	C/G	—	likely benign
rs1211858023	4:56,262,386	C/G	—	likely benign
rs1187840985	4:56,262,391	C/G	—	uncertain significance
rs1018878795	4:56,262,396	C/T	—	uncertain significance
rs2109509637	4:56,262,397	C/T	—	uncertain significance
rs900598742	4:56,262,399	C/T	—	uncertain significance
rs756276628	4:56,262,408	C/A	—	uncertain significance
rs376472202	4:56,262,410	G/A	—	likely benign
rs746908576	4:56,262,419	G/C	—	likely benign
rs1720718501	4:56,262,430	T/C	—	uncertain significance
rs2545476529	4:56,262,438	C/G	—	uncertain significance
rs1720719387	4:56,262,448	T/C	—	uncertain significance
rs769539033	4:56,262,452	G/T	—	likely benign
rs1021277116	4:56,262,453	G/A	—	uncertain significance
rs2545476594	4:56,262,479	C/T	—	likely benign
rs1036333511	4:56,262,480	C/T	—	uncertain significance
rs2545476620	4:56,262,489	G/C	—	uncertain significance
rs2545476640	4:56,262,494	G/A	—	likely benign
rs569903895	4:56,262,499	C/T	—	uncertain significance
rs1560383746	4:56,262,507	C/T	—	likely pathogenic
rs995046403	4:56,262,519	C/G	—	uncertain significance
rs1436584785	4:56,262,520	C/A	—	uncertain significance
rs779775771	4:56,262,522	C/G	—	uncertain significance
rs1475649772	4:56,262,541	G/T	—	uncertain significance
rs1720726251	4:56,262,547	A/G	—	uncertain significance
rs1050707381	4:56,262,552	G/T	—	uncertain significance
rs768223101	4:56,262,555	C/T	—	uncertain significance
rs558601598	4:56,262,560	C/G	—	likely benign
rs1720727389	4:56,262,566	G/A	—	uncertain significance
rs1019093638	4:56,262,579	T/C	—	likely benign
rs555663963	4:56,262,694	G/A	—	likely benign
rs3087606	4:56,262,741	C/G	—	benign
rs28433072	4:56,269,683	A/C	intron variant	—
rs56139168	4:56,273,287	G/T	—	—
rs11943456	4:56,276,334	T/C	downstream gene variant	—
rs114881602	4:56,277,551	C/T	—	likely benign
rs145491983	4:56,277,633	A/G	—	likely benign
rs1035439925	4:56,277,765	G/A	—	likely benign
rs773519117	4:56,277,766	A/T	—	likely benign
rs1578236097	4:56,277,772	T/C	—	likely benign
rs771232299	4:56,277,791	C/T	—	uncertain significance
rs1312894231	4:56,277,799	G/C	—	uncertain significance
rs370509809	4:56,277,815	A/G	—	uncertain significance
rs11542641	4:56,277,867	C/T	—	conflicting classifications of pathogenicity
rs986717132	4:56,277,868	G/A	—	uncertain significance
rs747450377	4:56,277,924	A/G	—	conflicting classifications of pathogenicity
rs387907222	4:56,277,949	C/T	missense variant	pathogenic
rs387907221	4:56,277,950	G/A	missense variant	pathogenic
rs141673565	4:56,277,957	C/T	—	likely benign
rs766323517	4:56,277,973	A/G	—	uncertain significance
rs2545494843	4:56,277,975	G/A	—	uncertain significance
rs2545494866	4:56,278,000	T/C	—	likely benign
rs1721514045	4:56,278,013	G/A	—	likely benign
rs2545494879	4:56,278,015	G/A	—	likely benign
rs370138167	4:56,278,021	C/A	—	conflicting classifications of pathogenicity
rs1174109927	4:56,278,023	C/T	—	likely benign
rs924305792	4:56,278,026	T/G	—	likely benign
rs2109551814	4:56,283,228	A/G	—	likely benign
rs2545500326	4:56,283,267	C/A	—	likely benign
rs2545500331	4:56,283,269	C/G	—	uncertain significance
rs530302737	4:56,283,274	G/T	—	uncertain significance
rs1434023803	4:56,283,294	A/C	—	likely benign
rs2545500411	4:56,283,300	A/G	—	likely benign
rs150519910	4:56,283,311	T/C	—	uncertain significance
rs191176116	4:56,283,312	T/A	—	likely benign
rs140292015	4:56,283,332	G/A	—	uncertain significance
rs2545500541	4:56,283,386	A/C	—	uncertain significance
rs372893311	4:56,283,407	A/G	—	uncertain significance
rs145661285	4:56,283,408	T/C	—	likely benign
rs772223487	4:56,283,421	C/T	—	likely benign
rs2545501355	4:56,283,972	T/G	—	uncertain significance
rs200205156	4:56,283,977	G/A	—	uncertain significance
rs749702494	4:56,283,999	G/A	—	likely benign
rs1721802537	4:56,284,012	A/G	—	uncertain significance
rs147314282	4:56,284,013	C/T	—	uncertain significance
rs762748207	4:56,284,020	A/C	—	likely benign
rs1721803596	4:56,284,021	A/G	—	uncertain significance
rs2109553145	4:56,284,050	G/C	—	uncertain significance
rs2545501485	4:56,284,060	T/C	—	uncertain significance
rs61744839	4:56,284,072	G/A	—	uncertain significance
rs1721806965	4:56,284,083	T/C	—	likely benign
rs766781454	4:56,284,084	A/T	—	uncertain significance
rs1560395434	4:56,284,085	C/A	—	uncertain significance
rs371595670	4:56,284,091	C/T	—	uncertain significance
rs755400516	4:56,284,094	T/C	—	uncertain significance
rs2545501546	4:56,284,107	G/A	—	pathogenic
rs376381642	4:56,284,132	A/G	—	uncertain significance
rs1721809615	4:56,284,137	A/G	—	likely benign
rs1262648199	4:56,284,138	T/C	—	likely benign
rs747058821	4:56,284,141	G/A	—	uncertain significance

Showing 100 of 148 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.