AMPD2

adenosine monophosphate deaminase 2

Summary

The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

Known Variants376 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs139606823	1:110,161,921	C/G	regulatory region variant	—
rs56079255	1:110,162,190	T/C	—	benign
rs77539911	1:110,162,318	G/C	—	likely benign
rs55646629	1:110,162,548	C/T	—	benign
rs28362580	1:110,162,918	T/C	—	benign
rs114804066	1:110,162,995	G/A	—	likely benign
rs6669802	1:110,163,076	A/G	—	benign
rs769851350	1:110,163,637	T/G	—	uncertain significance
rs748788622	1:110,163,647	T/C	—	likely benign
rs773946980	1:110,163,649	G/A	—	uncertain significance
rs2524376296	1:110,163,665	C/T	—	likely benign
rs2524376370	1:110,163,679	G/C	—	uncertain significance
rs759948714	1:110,163,686	G/A	—	likely benign
rs758932818	1:110,163,703	T/C	—	uncertain significance
rs1012698060	1:110,163,704	G/T	—	likely benign
rs1025210705	1:110,163,723	G/T	—	uncertain significance
rs745646206	1:110,163,731	T/C	—	likely benign
rs570541266	1:110,163,746	C/G	—	likely benign
rs1650210949	1:110,163,752	C/G	—	uncertain significance
rs1030974786	1:110,163,753	C/T	—	conflicting classifications of pathogenicity
rs768664971	1:110,163,755	G/T	—	likely benign
rs1650212785	1:110,163,760	G/A	—	uncertain significance
rs1277967521	1:110,163,768	T/A	—	uncertain significance
rs773680696	1:110,163,771	C/A	—	uncertain significance
rs771607197	1:110,163,779	C/T	—	likely benign
rs772899120	1:110,163,780	G/T	—	uncertain significance
rs759860840	1:110,163,785	C/T	—	likely benign
rs763310916	1:110,163,805	C/T	—	uncertain significance
rs762011633	1:110,163,818	C/T	—	likely benign
rs147463318	1:110,163,820	C/G	—	uncertain significance
rs141792341	1:110,163,824	C/A	—	likely benign
rs1326159064	1:110,163,838	A/T	—	uncertain significance
rs2524377874	1:110,163,847	T/C	—	uncertain significance
rs1193667116	1:110,163,863	C/T	—	likely benign
rs143354905	1:110,163,869	G/A	—	likely benign
rs943933650	1:110,163,870	G/T	—	uncertain significance
rs2524378036	1:110,163,878	T/C	—	likely benign
rs28362581	1:110,163,879	G/A	—	likely benign
rs750556724	1:110,163,897	G/A	—	likely benign
rs112387076	1:110,163,966	C/A	—	likely benign
rs1300828036	1:110,164,046	T/G	—	likely benign
rs1456012000	1:110,164,053	A/G	—	likely benign
rs1328314287	1:110,164,058	T/G	—	likely benign
rs1314147991	1:110,164,061	T/G	—	benign
rs186745159	1:110,164,068	C/G	—	benign
rs138999094	1:110,167,725	G/A	—	likely benign
rs1365588320	1:110,167,929	T/C	—	likely benign
rs2101153100	1:110,167,937	G/T	—	uncertain significance
rs749918422	1:110,167,939	C/G	—	uncertain significance
rs1570582728	1:110,167,947	C/T	—	likely benign
rs950867870	1:110,167,953	G/A	—	likely benign
rs771577116	1:110,167,967	G/A	—	uncertain significance
rs770051774	1:110,167,976	C/T	—	uncertain significance
rs775613960	1:110,167,977	G/A	—	likely benign
rs1200977295	1:110,167,978	G/T	—	uncertain significance
rs536855870	1:110,167,983	C/T	—	likely benign
rs768390114	1:110,167,984	G/A	—	uncertain significance
rs1176140168	1:110,167,985	C/T	—	uncertain significance
rs587777769	1:110,167,990	—	—	pathogenic
rs760164880	1:110,168,007	G/A	—	likely benign
rs766037337	1:110,168,008	C/T	—	uncertain significance
rs753496081	1:110,168,010	C/T	—	likely benign
rs754712604	1:110,168,011	G/A	—	uncertain significance
rs761012397	1:110,168,013	C/T	—	likely benign
rs749976113	1:110,168,018	G/A	—	uncertain significance
rs745929697	1:110,168,022	G/C	—	likely benign
rs2524395613	1:110,168,023	T/G	—	uncertain significance
rs1351463033	1:110,168,049	C/T	—	likely benign
rs140683735	1:110,168,052	C/T	—	likely benign
rs2524395979	1:110,168,070	C/T	—	likely benign
rs200880116	1:110,168,074	C/T	—	likely benign
rs753406095	1:110,168,075	G/T	—	likely benign
rs145774793	1:110,168,088	G/A	—	benign
rs764953041	1:110,168,279	C/A	—	conflicting classifications of pathogenicity
rs116223306	1:110,168,280	C/T	—	likely benign
rs1308492888	1:110,168,297	G/A	—	uncertain significance
rs1650609306	1:110,168,298	C/G	—	likely benign
rs1650609556	1:110,168,300	C/T	—	uncertain significance
rs375398656	1:110,168,305	G/A	—	uncertain significance
rs2101154713	1:110,168,308	G/T	—	pathogenic
rs989039609	1:110,168,313	C/T	—	likely benign
rs1280694701	1:110,168,321	G/A	—	uncertain significance
rs139217835	1:110,168,331	G/T	—	likely benign
rs2101154925	1:110,168,337	G/A	—	likely benign
rs2101154929	1:110,168,340	C/T	—	likely benign
rs747871730	1:110,168,343	C/T	—	likely benign
rs776751502	1:110,168,344	G/A	—	uncertain significance
rs745350160	1:110,168,349	G/C	—	uncertain significance
rs1181574551	1:110,168,355	C/T	—	likely benign
rs769379663	1:110,168,358	T/C	—	likely benign
rs1650618181	1:110,168,375	G/T	—	uncertain significance
rs201811531	1:110,168,377	C/T	—	uncertain significance
rs2524398223	1:110,168,380	C/T	—	pathogenic
rs773433343	1:110,168,382	G/A	—	likely benign
rs754388238	1:110,168,391	G/A	—	likely benign
rs2524398374	1:110,168,400	C/G	—	uncertain significance
rs373586469	1:110,168,417	G/A	—	uncertain significance
rs376994583	1:110,168,422	C/T	—	likely benign
rs371094107	1:110,168,423	G/A	—	likely benign
rs1269768577	1:110,168,424	G/A	—	likely benign

Showing 100 of 376 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.