GGT1

gamma-glutamyltransferase 1

Summary

The enzyme encoded by this gene is a type I gamma-glutamyltransferase that catalyzes the transfer of the glutamyl moiety of glutathione to a variety of amino acids and dipeptide acceptors. The enzyme is composed of a heavy chain and a light chain, which are derived from a single precursor protein. It is expressed in tissues involved in absorption and secretion and may contribute to the etiology of diabetes and other metabolic disorders. Multiple alternatively spliced variants have been identified. There are a number of related genes present on chromosomes 20 and 22, and putative pseudogenes for this gene on chromosomes 2, 13, and 22. [provided by RefSeq, Jan 2014]

Known Variants112 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2236626	22:24,979,447	C/T	regulatory region variant	—
rs139292012	22:24,981,186	C/T	downstream gene variant	—
rs199729018	22:24,982,005	C/T	missense variant	—
rs200426740	22:24,985,742	C/A	intron variant	—
rs61737674	22:24,985,840	G/T	synonymous variant	—
rs544166194	22:24,990,101	G/A	—	—
rs4820599	22:24,990,213	A/G	regulatory region variant	—
rs6519520	22:24,991,895	A/G	upstream gene variant	—
rs5751901	22:24,992,266	T/C	upstream gene variant	—
rs6004193	22:24,994,296	T/G	—	—
rs549787670	22:24,994,785	G/A	—	—
rs743371	22:24,994,939	T/A	—	—
rs5751902	22:24,996,630	C/T	upstream gene variant	—
rs3859862	22:24,997,070	A/G	upstream gene variant	—
rs2017869	22:24,997,309	G/T	—	—
rs28509371	22:24,997,846	T/G	—	—
rs5760494	22:24,998,553	C/T	upstream gene variant	—
rs184206356	22:24,998,693	A/T	upstream gene variant	—
rs77997635	22:24,998,780	C/T	upstream gene variant	—
rs2073398	22:24,999,104	C/G	regulatory region variant	—
rs554233625	22:24,999,151	C/T	—	—
rs5760495	22:25,000,461	C/T	regulatory region variant	—
rs2330809	22:25,002,081	C/T	intron variant	—
rs1807629	22:25,002,323	T/C	intron variant	—
rs146555870	22:25,003,085	C/T	intron variant	—
rs57719575	22:25,004,987	G/T	—	—
rs370160909	22:25,006,916	T/C	—	benign
rs1358648745	22:25,007,063	A/T	—	likely benign
rs4049897	22:25,007,132	A/G	—	benign
rs2518199378	22:25,007,134	C/T	—	uncertain significance
rs751587531	22:25,007,175	G/A	—	uncertain significance
rs535860497	22:25,007,181	G/A	—	uncertain significance
rs2330838	22:25,007,202	A/G	—	likely benign
rs371333741	22:25,007,351	A/G	—	benign
rs117275250	22:25,008,460	G/A	downstream gene variant	—
rs4049881	22:25,010,746	T/C	—	benign
rs766717298	22:25,010,763	G/C	—	uncertain significance
rs754060808	22:25,010,769	C/T	—	uncertain significance
rs12166510	22:25,010,885	G/A	—	benign
rs143010532	22:25,010,941	G/A	—	benign
rs7284160	22:25,010,943	T/C	—	benign
rs112952976	22:25,010,967	G/C	—	benign
rs2046975182	22:25,011,037	G/T	—	uncertain significance
rs144125176	22:25,011,109	A/C	—	benign
rs4822520	22:25,011,269	T/C	—	benign
rs28377326	22:25,011,320	T/C	—	benign
rs389004	22:25,011,332	A/G	—	benign
rs4822523	22:25,011,901	A/T	intron variant	—
rs8135987	22:25,012,854	T/C	intron variant	—
rs9612676	22:25,012,940	T/C	—	—
rs5751909	22:25,013,346	G/A	intron variant	—
rs182435242	22:25,014,770	C/T	intron variant	—
rs539058475	22:25,016,041	A/G	—	benign
rs3865652	22:25,016,206	A/G	—	benign
rs3865651	22:25,016,207	T/C	—	benign
rs183458338	22:25,016,311	G/A	—	benign
rs532666474	22:25,016,368	C/T	—	likely benign
rs3895576	22:25,016,442	C/T	—	benign
rs767265273	22:25,016,457	G/C	—	uncertain significance
rs760590098	22:25,016,461	C/T	—	likely benign
rs5760505	22:25,016,737	A/G	—	benign
rs559769603	22:25,016,960	C/T	—	uncertain significance
rs757859809	22:25,017,003	C/T	—	likely benign
rs114926965	22:25,017,006	G/A	—	benign
rs548662139	22:25,017,025	A/G	—	uncertain significance
rs769782305	22:25,017,032	C/T	—	uncertain significance
rs375596144	22:25,019,110	G/A	—	uncertain significance
rs2518306293	22:25,019,122	T/C	—	uncertain significance
rs4049829	22:25,019,155	T/C	—	benign
rs749302162	22:25,019,192	C/T	—	likely benign
rs4049830	22:25,019,367	T/C	—	benign
rs11913233	22:25,019,398	C/T	—	benign
rs185947660	22:25,019,761	C/T	—	likely benign
rs949956686	22:25,019,769	C/T	—	likely benign
rs766913592	22:25,019,786	A/G	—	uncertain significance
rs779028206	22:25,019,807	G/A	—	uncertain significance
rs200607258	22:25,019,813	T/C	—	uncertain significance
rs574950756	22:25,020,824	G/A	—	—
rs58936342	22:25,023,324	A/G	—	benign
rs1372566032	22:25,023,354	A/C	—	benign
rs779140361	22:25,023,358	T/C	—	benign
rs748474536	22:25,023,362	T/C	—	benign
rs373743269	22:25,023,405	C/T	—	uncertain significance
rs756233295	22:25,023,420	G/A	—	uncertain significance
rs1206919108	22:25,023,440	C/T	—	likely benign
rs371390626	22:25,023,472	C/G	—	uncertain significance
rs765339226	22:25,023,564	G/A	—	uncertain significance
rs57063182	22:25,023,670	C/T	—	benign
rs367694595	22:25,023,789	C/T	—	benign
rs374750153	22:25,023,835	C/T	—	uncertain significance
rs201969696	22:25,023,842	C/T	—	uncertain significance
rs372750547	22:25,023,889	C/T	—	uncertain significance
rs373393964	22:25,023,904	G/A	—	uncertain significance
rs12167957	22:25,024,016	C/T	—	benign
rs5996723	22:25,024,044	G/A	—	likely benign
rs932400175	22:25,024,068	A/G	—	uncertain significance
rs754875589	22:25,024,070	G/A	—	uncertain significance
rs369713123	22:25,024,076	G/A	—	benign
rs200266956	22:25,024,108	G/A	—	likely benign
rs773056336	22:25,024,115	G/T	—	likely benign

Showing 100 of 112 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.