MTAP

methylthioadenosine phosphorylase

Summary

This gene encodes an enzyme that plays a major role in polyamine metabolism and is important for the salvage pathway of both adenine and methionine. The encoded enzyme is deficient in many cancers. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2021]

Known Variants162 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2165408	9:21,802,469	A/G	—	benign
rs868186542	9:21,802,470	A/G	—	benign
rs545625466	9:21,802,631	T/C	—	likely benign
rs949068748	9:21,802,696	G/C	—	uncertain significance
rs375344882	9:21,802,743	C/G	—	benign
rs1376703539	9:21,802,761	C/T	—	uncertain significance
rs117769854	9:21,802,922	C/G	—	benign
rs935055	9:21,803,183	G/T	—	—
rs869329	9:21,804,693	A/T	—	—
rs10757257	9:21,806,564	G/A	downstream gene variant	—
rs7859886	9:21,811,441	A/G	downstream gene variant	—
rs2039971	9:21,815,166	G/T	—	benign
rs139020435	9:21,815,437	A/C	—	likely benign
rs2488979357	9:21,815,484	G/A	—	uncertain significance
rs774955664	9:21,815,509	A/G	—	benign
rs767695022	9:21,815,514	G/T	—	uncertain significance
rs773376144	9:21,815,516	A/C	—	uncertain significance
rs760959805	9:21,815,517	A/G	—	uncertain significance
rs2282245	9:21,815,797	T/C	—	benign
rs7023329	9:21,816,528	A/G	upstream gene variant	benign
rs7023680	9:21,816,573	G/A	—	benign
rs10114559	9:21,816,637	T/C	—	benign
rs7023474	9:21,816,646	A/G	—	benign
rs201864201	9:21,816,703	T/C	—	benign
rs750076531	9:21,816,728	A/C	—	likely benign
rs2488983484	9:21,816,746	A/G	—	uncertain significance
rs7023954	9:21,816,758	G/A	missense variant	benign
rs369294437	9:21,816,783	T/A	—	likely benign
rs7027989	9:21,817,754	A/G	intron variant	benign
rs4345650	9:21,817,777	T/C	—	benign
rs58005508	9:21,818,011	C/T	—	benign
rs886063781	9:21,818,041	A/G	—	uncertain significance
rs764365358	9:21,818,078	A/G	—	uncertain significance
rs751881433	9:21,818,081	C/T	—	uncertain significance
rs1824530237	9:21,818,106	G/C	—	uncertain significance
rs759117703	9:21,818,132	C/T	—	uncertain significance
rs762121645	9:21,818,154	G/A	—	uncertain significance
rs147319145	9:21,818,169	C/T	—	benign
rs3928894	9:21,818,310	T/C	—	benign
rs75664672	9:21,837,699	C/T	—	benign
rs764360382	9:21,837,987	C/T	—	uncertain significance
rs7868783	9:21,838,145	A/G	—	benign
rs12378675	9:21,838,179	A/C	—	benign
rs11523031	9:21,843,842	A/G	intron variant	—
rs757058119	9:21,854,624	T/C	—	likely benign
rs975980523	9:21,854,654	C/G	—	uncertain significance
rs569692278	9:21,854,705	C/T	—	uncertain significance
rs147028761	9:21,854,739	G/A	—	likely benign
rs10965163	9:21,854,740	T/C	—	benign
rs184520335	9:21,854,745	G/T	—	benign
rs200708704	9:21,854,751	C/T	—	uncertain significance
rs189392570	9:21,854,782	G/A	—	likely benign
rs143080527	9:21,854,832	C/T	—	benign
rs2489086045	9:21,854,849	T/C	—	uncertain significance
rs1269727778	9:21,854,861	G/A	—	uncertain significance
rs3802393	9:21,855,038	G/A	—	benign
rs7039105	9:21,855,096	G/T	—	benign
rs73438573	9:21,859,194	G/T	—	benign
rs77412364	9:21,859,289	A/G	—	benign
rs750086970	9:21,859,314	C/T	—	uncertain significance
rs1406548706	9:21,859,315	G/A	—	uncertain significance
rs62556500	9:21,859,379	T/G	—	likely benign
rs774399449	9:21,859,381	A/G	—	uncertain significance
rs373274501	9:21,859,399	G/T	—	conflicting classifications of pathogenicity
rs67222036	9:21,861,903	G/T	—	benign
rs754086497	9:21,862,028	C/A	—	benign
rs553057304	9:21,862,030	A/G	—	benign
rs755040797	9:21,862,115	A/G	—	uncertain significance
rs897835622	9:21,862,267	A/T	—	uncertain significance
rs15735	9:21,862,271	C/A	—	benign
rs78195856	9:21,862,272	C/A	—	benign
rs140440868	9:21,862,316	G/A	—	uncertain significance
rs150414950	9:21,862,341	T/C	—	benign
rs886063783	9:21,862,391	T/C	—	uncertain significance
rs78389853	9:21,862,406	G/C	—	benign
rs1050551130	9:21,862,408	A/G	—	uncertain significance
rs1134870	9:21,862,549	A/G	—	benign
rs566061531	9:21,862,619	A/G	—	benign
rs146095448	9:21,862,670	T/C	—	benign
rs138936486	9:21,862,720	A/G	—	benign
rs1031531828	9:21,862,743	A/G	—	uncertain significance
rs1317482370	9:21,862,808	A/T	—	uncertain significance
rs58555715	9:21,862,810	C/T	—	benign
rs142144597	9:21,862,817	T/C	—	benign
rs1134871	9:21,862,897	T/A	—	benign
rs41270137	9:21,862,908	G/A	—	benign
rs1825783181	9:21,862,925	A/G	—	uncertain significance
rs180861815	9:21,863,051	A/G	—	benign
rs187215052	9:21,863,078	A/G	—	benign
rs1825785660	9:21,863,106	G/T	—	uncertain significance
rs886063785	9:21,863,153	A/G	—	uncertain significance
rs182505150	9:21,863,194	A/G	—	benign
rs886063786	9:21,863,210	C/G	—	uncertain significance
rs556119629	9:21,863,238	G/A	—	benign
rs111408881	9:21,863,354	C/T	—	benign
rs755911467	9:21,863,397	G/C	—	uncertain significance
rs1825792275	9:21,863,412	C/A	—	uncertain significance
rs753610558	9:21,863,466	C/T	—	uncertain significance
rs560361151	9:21,863,495	A/G	—	uncertain significance
rs989103885	9:21,863,571	G/C	—	uncertain significance

Showing 100 of 162 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.