ACP5

acid phosphatase 5, tartrate resistant

Summary

This gene encodes an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. [provided by RefSeq, Aug 2008]

Known Variants262 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2512718423	19:11,685,827	A/G	—	uncertain significance
rs1024960552	19:11,685,830	G/A	—	uncertain significance
rs145265651	19:11,685,832	C/A	—	uncertain significance
rs771662520	19:11,685,833	T/C	—	uncertain significance
rs149133430	19:11,685,838	C/T	—	uncertain significance
rs146436811	19:11,685,839	G/A	—	uncertain significance
rs2145080770	19:11,685,840	C/T	—	likely benign
rs147954991	19:11,685,843	C/T	—	likely benign
rs745604493	19:11,685,844	G/A	—	uncertain significance
rs141909893	19:11,685,848	G/A	—	benign
rs2512718582	19:11,685,849	C/T	—	likely benign
rs375523195	19:11,685,853	G/C	—	uncertain significance
rs1599630500	19:11,685,854	T/C	—	uncertain significance
rs774680683	19:11,685,873	C/T	—	likely benign
rs576211897	19:11,685,881	C/T	—	uncertain significance
rs763811862	19:11,685,882	G/C	—	uncertain significance
rs2512718867	19:11,685,883	A/T	—	uncertain significance
rs1483232010	19:11,685,884	T/A	—	uncertain significance
rs2145081185	19:11,685,889	G/A	—	uncertain significance
rs2145081214	19:11,685,894	A/G	—	likely benign
rs1184128520	19:11,685,901	T/C	—	uncertain significance
rs2512719087	19:11,685,920	C/T	—	uncertain significance
rs913182619	19:11,685,931	C/T	—	uncertain significance
rs752091275	19:11,685,932	C/G	—	uncertain significance
rs1375117962	19:11,685,933	A/G	—	likely benign
rs147115345	19:11,685,942	G/A	—	benign
rs62638748	19:11,685,943	T/G	—	likely benign
rs77911902	19:11,685,948	A/G	—	benign
rs1369048725	19:11,685,949	G/A	—	uncertain significance
rs1973079948	19:11,685,952	C/T	—	uncertain significance
rs931778512	19:11,685,955	T/C	—	uncertain significance
rs749645391	19:11,685,957	G/C	—	uncertain significance
rs771458690	19:11,685,964	C/T	—	uncertain significance
rs774428695	19:11,685,965	G/A	—	uncertain significance
rs387906671	19:11,685,970	—	—	uncertain significance
rs1248410622	19:11,685,971	A/G	—	uncertain significance
rs377528244	19:11,685,974	C/T	—	uncertain significance
rs371003771	19:11,685,975	G/A	—	likely benign
rs760569679	19:11,685,978	G/T	—	likely benign
rs1973082559	19:11,685,979	G/A	—	uncertain significance
rs2512719602	19:11,685,981	G/C	—	likely benign
rs150107007	19:11,685,988	C/T	—	uncertain significance
rs147025508	19:11,685,989	G/A	—	conflicting classifications of pathogenicity
rs2512719732	19:11,685,996	C/T	—	likely benign
rs749985898	19:11,685,997	C/T	—	uncertain significance
rs199986980	19:11,685,998	G/A	—	uncertain significance
rs1973084550	19:11,685,999	C/A	—	uncertain significance
rs188463838	19:11,686,001	T/C	—	uncertain significance
rs2512719833	19:11,686,009	T/C	—	uncertain significance
rs387906670	19:11,686,012	A/T	missense variant	pathogenic
rs878853218	19:11,686,013	—	—	pathogenic
rs141519703	19:11,686,020	C/T	—	likely benign
rs2145082191	19:11,686,022	C/A	—	uncertain significance
rs2145082207	19:11,686,023	A/G	—	likely benign
rs368442469	19:11,686,026	C/A	—	likely benign
rs2145082240	19:11,686,028	C/T	—	uncertain significance
rs2512719998	19:11,686,031	T/G	—	conflicting classifications of pathogenicity
rs146196342	19:11,686,037	C/G	—	conflicting classifications of pathogenicity
rs549955384	19:11,686,038	G/A	—	likely benign
rs1973087424	19:11,686,044	C/T	—	likely benign
rs775386822	19:11,686,045	A/G	—	uncertain significance
rs371116310	19:11,686,046	C/T	—	uncertain significance
rs139096747	19:11,686,047	G/A	—	likely benign
rs776546224	19:11,686,048	C/T	—	uncertain significance
rs1318099072	19:11,686,060	T/C	—	uncertain significance
rs761798208	19:11,686,065	G/T	—	pathogenic
rs1973089024	19:11,686,069	T/C	—	pathogenic
rs773090099	19:11,686,070	G/A	—	uncertain significance
rs2512720248	19:11,686,073	G/A	—	likely benign
rs766031438	19:11,686,074	A/T	—	likely benign
rs79859926	19:11,686,743	C/T	—	benign
rs4994983	19:11,686,840	G/A	—	benign
rs1413963470	19:11,687,040	C/T	—	likely benign
rs1230288363	19:11,687,043	C/G	—	likely benign
rs1258980089	19:11,687,044	C/T	—	likely benign
rs747299112	19:11,687,045	A/T	—	likely benign
rs781252304	19:11,687,050	G/A	—	likely benign
rs1484884500	19:11,687,051	C/A	—	likely benign
rs1973142593	19:11,687,060	G/A	—	pathogenic
rs1453335064	19:11,687,062	A/G	—	uncertain significance
rs371717424	19:11,687,063	G/A	—	likely benign
rs2145087630	19:11,687,072	C/T	—	pathogenic
rs374919506	19:11,687,073	G/A	—	likely benign
rs762775321	19:11,687,078	C/T	—	uncertain significance
rs199512530	19:11,687,079	G/A	—	likely benign
rs2145087756	19:11,687,081	A/G	—	pathogenic
rs547734259	19:11,687,091	A/C	—	likely benign
rs374180791	19:11,687,099	C/T	—	conflicting classifications of pathogenicity
rs373030121	19:11,687,100	G/A	—	benign
rs142623076	19:11,687,111	G/C	—	uncertain significance
rs1257952148	19:11,687,115	T/G	—	likely benign
rs765756315	19:11,687,120	G/A	—	uncertain significance
rs750934725	19:11,687,123	G/A	—	likely benign
rs387906669	19:11,687,126	G/A	stop gained	pathogenic
rs2145088053	19:11,687,130	G/C	—	likely benign
rs2229532	19:11,687,132	C/T	—	likely benign
rs1433238601	19:11,687,133	C/G	—	likely benign
rs780454598	19:11,687,135	G/A	—	likely benign
rs148656335	19:11,687,141	G/A	—	uncertain significance
rs2512725859	19:11,687,142	G/T	—	likely benign

Showing 100 of 262 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.