GFPT1

glutamine--fructose-6-phosphate transaminase 1

Summary

This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate. [provided by RefSeq, Sep 2008]

Known Variants476 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs560039272	2:69,546,943	C/T	—	uncertain significance
rs115964031	2:69,546,955	A/G	—	benign
rs533940046	2:69,547,037	C/T	—	uncertain significance
rs1670370978	2:69,547,185	G/A	—	uncertain significance
rs886056229	2:69,547,195	T/C	—	uncertain significance
rs950984771	2:69,547,219	A/C	—	uncertain significance
rs55888680	2:69,547,227	G/A	—	benign
rs7642	2:69,547,236	G/C	—	benign
rs1670373103	2:69,547,282	C/A	—	uncertain significance
rs886056230	2:69,547,305	G/A	—	uncertain significance
rs143649075	2:69,547,318	C/A	—	likely benign
rs1670375941	2:69,547,437	T/C	—	uncertain significance
rs1670376889	2:69,547,501	G/A	—	uncertain significance
rs1247018108	2:69,547,521	C/T	—	uncertain significance
rs1670377831	2:69,547,557	T/C	—	uncertain significance
rs1239125022	2:69,547,608	A/G	—	uncertain significance
rs191479634	2:69,547,648	G/A	—	uncertain significance
rs886056232	2:69,547,807	C/A	—	uncertain significance
rs921980900	2:69,547,845	G/A	—	uncertain significance
rs115361740	2:69,547,857	T/C	—	uncertain significance
rs1051676273	2:69,547,873	T/C	—	uncertain significance
rs1670383958	2:69,547,884	C/T	—	uncertain significance
rs886056233	2:69,547,889	C/T	—	uncertain significance
rs940728850	2:69,547,931	A/C	—	uncertain significance
rs113138427	2:69,547,967	C/T	—	uncertain significance
rs575765484	2:69,547,968	G/A	—	uncertain significance
rs867127128	2:69,547,996	A/C	—	uncertain significance
rs780713952	2:69,548,060	C/G	—	uncertain significance
rs560585699	2:69,548,317	C/T	—	uncertain significance
rs13396883	2:69,548,320	C/T	—	benign
rs112572296	2:69,548,377	T/C	—	likely benign
rs1670399708	2:69,548,491	T/C	—	uncertain significance
rs67016706	2:69,548,495	T/G	—	benign
rs886056236	2:69,548,560	C/T	—	uncertain significance
rs28694003	2:69,548,591	C/T	—	benign
rs189919589	2:69,548,597	T/A	—	uncertain significance
rs886056237	2:69,548,671	T/C	—	uncertain significance
rs886056238	2:69,548,801	C/G	—	uncertain significance
rs148687340	2:69,548,918	C/A	—	benign
rs1670408570	2:69,548,946	T/C	—	uncertain significance
rs142243075	2:69,549,047	T/A	—	likely benign
rs186353485	2:69,549,062	G/A	—	uncertain significance
rs555260998	2:69,549,091	G/A	—	uncertain significance
rs190736026	2:69,549,092	T/A	—	uncertain significance
rs560298974	2:69,549,200	T/C	—	uncertain significance
rs13751	2:69,549,262	T/C	—	benign
rs4128250	2:69,549,268	A/T	—	benign
rs766868319	2:69,549,400	G/A	—	uncertain significance
rs116952694	2:69,549,540	C/A	—	benign
rs531890221	2:69,549,642	C/G	—	uncertain significance
rs886056239	2:69,549,742	A/G	—	uncertain significance
rs150614742	2:69,549,745	T/C	—	uncertain significance
rs575041449	2:69,549,883	T/C	—	uncertain significance
rs886056240	2:69,549,936	C/T	—	uncertain significance
rs73937245	2:69,549,976	G/C	—	uncertain significance
rs1670448736	2:69,550,034	C/T	—	uncertain significance
rs7579532	2:69,550,036	T/C	—	benign
rs79748218	2:69,550,187	T/C	—	likely benign
rs7582334	2:69,550,230	T/A	—	uncertain significance
rs886056241	2:69,550,231	C/A	—	uncertain significance
rs7568296	2:69,550,256	C/T	—	benign
rs549806095	2:69,550,300	A/T	—	uncertain significance
rs886056242	2:69,550,302	C/A	—	uncertain significance
rs114138715	2:69,550,405	T/C	—	likely benign
rs7568674	2:69,550,414	G/A	—	benign
rs772432908	2:69,550,563	C/T	—	uncertain significance
rs892647803	2:69,550,599	G/A	—	uncertain significance
rs886056243	2:69,550,601	G/A	—	uncertain significance
rs74972420	2:69,550,636	T/C	—	benign
rs10185336	2:69,550,652	G/A	—	benign
rs1002266594	2:69,550,687	G/A	—	uncertain significance
rs1670462400	2:69,550,699	C/T	—	uncertain significance
rs60949141	2:69,550,810	A/T	—	benign
rs61159728	2:69,550,811	T/A	—	uncertain significance
rs866089468	2:69,550,812	T/A	—	uncertain significance
rs1208953624	2:69,550,813	T/A	—	uncertain significance
rs1015403272	2:69,550,823	T/C	—	uncertain significance
rs886056244	2:69,550,848	G/A	—	uncertain significance
rs541938366	2:69,550,857	G/T	—	uncertain significance
rs191588030	2:69,550,893	C/T	—	likely benign
rs886056245	2:69,550,901	G/A	—	uncertain significance
rs966070692	2:69,550,903	G/A	—	uncertain significance
rs914030975	2:69,550,911	G/A	—	uncertain significance
rs572137795	2:69,550,953	G/A	—	uncertain significance
rs182934478	2:69,550,957	G/A	—	likely benign
rs886056246	2:69,550,996	C/T	—	uncertain significance
rs1026843260	2:69,550,998	G/A	—	uncertain significance
rs10198150	2:69,551,011	T/C	—	benign
rs10198171	2:69,551,052	T/C	—	benign
rs145374217	2:69,551,098	G/A	—	uncertain significance
rs149217357	2:69,551,102	G/A	—	benign
rs1670478208	2:69,551,304	T/C	—	uncertain significance
rs989010524	2:69,551,420	T/C	—	uncertain significance
rs886056247	2:69,551,452	T/C	—	uncertain significance
rs886056248	2:69,551,580	G/C	—	uncertain significance
rs557996332	2:69,551,583	G/T	—	uncertain significance
rs886056249	2:69,551,682	T/C	—	uncertain significance
rs886056250	2:69,551,781	T/A	—	uncertain significance
rs889572078	2:69,551,857	T/C	—	uncertain significance
rs146949335	2:69,551,860	A/C	—	uncertain significance

Showing 100 of 476 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.