ABCA2

ATP binding cassette subfamily A member 2

Summary

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants340 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs10870161	9:139,902,214	A/G	—	benign
rs771105113	9:139,902,395	C/T	—	uncertain significance
rs1437056568	9:139,902,415	G/A	—	uncertain significance
rs4880185	9:139,902,712	A/G	—	benign
rs4880186	9:139,902,786	C/G	—	benign
rs4880187	9:139,902,797	C/G	—	benign
rs1830909052	9:139,902,880	G/A	—	likely benign
rs370107877	9:139,902,896	T/C	—	uncertain significance
rs1227050658	9:139,902,903	C/T	—	uncertain significance
rs752499286	9:139,902,905	G/A	—	uncertain significance
rs1019764433	9:139,902,911	A/C	—	uncertain significance
rs374468509	9:139,902,919	G/A	—	likely benign
rs537956669	9:139,902,939	C/T	—	uncertain significance
rs772397149	9:139,902,953	G/A	—	uncertain significance
rs55971316	9:139,902,962	C/T	—	uncertain significance
rs762879252	9:139,902,967	C/T	—	likely benign
rs547600750	9:139,902,968	C/T	—	uncertain significance
rs570802164	9:139,902,969	G/A	—	uncertain significance
rs766516205	9:139,902,979	G/A	—	likely benign
rs748366859	9:139,902,990	C/G	—	uncertain significance
rs747556577	9:139,903,008	C/T	—	uncertain significance
rs932366501	9:139,903,027	C/T	—	likely benign
rs1283555204	9:139,903,068	C/G	—	uncertain significance
rs376935835	9:139,903,184	T/C	—	uncertain significance
rs1323293100	9:139,903,298	T/C	—	uncertain significance
rs758029250	9:139,903,308	T/C	—	uncertain significance
rs1250786096	9:139,903,311	G/A	—	uncertain significance
rs1173530564	9:139,903,317	G/A	—	uncertain significance
rs79419594	9:139,903,327	G/A	—	benign
rs2491488115	9:139,903,437	A/C	—	uncertain significance
rs374853474	9:139,903,440	C/T	—	uncertain significance
rs747266171	9:139,903,441	G/A	—	uncertain significance
rs1242555147	9:139,903,465	T/C	—	uncertain significance
rs200737069	9:139,903,481	C/G	—	likely benign
rs2491491996	9:139,904,033	G/A	—	uncertain significance
rs762693872	9:139,904,036	C/T	—	uncertain significance
rs7048567	9:139,904,037	G/A	—	benign
rs193005763	9:139,904,227	G/A	—	likely benign
rs1005414934	9:139,904,234	G/A	—	uncertain significance
rs992934331	9:139,904,303	G/A	—	uncertain significance
rs374618311	9:139,904,313	C/T	—	uncertain significance
rs752333309	9:139,904,355	C/T	—	uncertain significance
rs200952224	9:139,904,444	G/A	—	likely benign
rs367589587	9:139,904,463	C/T	—	uncertain significance
rs559341917	9:139,904,494	G/A	—	uncertain significance
rs755962897	9:139,904,509	C/T	—	uncertain significance
rs150403388	9:139,904,658	C/T	—	likely benign
rs749825558	9:139,904,674	C/T	—	likely benign
rs1404705070	9:139,904,675	G/A	—	uncertain significance
rs769101874	9:139,904,677	C/T	—	likely benign
rs201928308	9:139,904,686	G/A	—	likely benign
rs778465935	9:139,904,689	G/A	—	likely benign
rs567155142	9:139,904,727	C/T	—	uncertain significance
rs770759670	9:139,904,788	G/A	—	likely benign
rs373061291	9:139,904,798	C/G	—	uncertain significance
rs370257727	9:139,905,107	C/T	—	uncertain significance
rs377050255	9:139,905,130	T/C	—	uncertain significance
rs769752127	9:139,905,133	C/T	—	uncertain significance
rs187721371	9:139,905,170	T/G	—	uncertain significance
rs753560193	9:139,905,182	G/A	—	uncertain significance
rs754576760	9:139,905,187	C/T	—	uncertain significance
rs369022993	9:139,905,188	G/A	—	uncertain significance
rs772518849	9:139,905,431	C/T	—	conflicting classifications of pathogenicity
rs777122990	9:139,905,447	A/G	—	uncertain significance
rs747402455	9:139,905,509	C/T	—	uncertain significance
rs2491500067	9:139,905,515	A/G	—	uncertain significance
rs200252232	9:139,905,532	C/A	—	benign
rs1831024244	9:139,905,542	A/C	—	uncertain significance
rs374229573	9:139,905,562	G/A	—	likely benign
rs2491500575	9:139,905,637	C/T	—	likely pathogenic
rs200564702	9:139,905,657	G/A	—	likely benign
rs145591245	9:139,905,753	C/T	—	likely benign
rs1219505661	9:139,905,777	G/C	—	uncertain significance
rs192338812	9:139,905,851	C/T	—	likely benign
rs377542847	9:139,905,871	G/A	—	likely benign
rs35099111	9:139,905,895	C/A	—	benign
rs773227410	9:139,905,903	C/T	—	uncertain significance
rs200489779	9:139,905,904	G/A	—	likely benign
rs2131433791	9:139,905,957	G/A	—	uncertain significance
rs142579624	9:139,906,016	G/A	—	benign
rs2491503249	9:139,906,128	G/A	—	uncertain significance
rs529755142	9:139,906,133	C/T	—	likely benign
rs200870904	9:139,906,293	C/T	—	likely benign
rs770447714	9:139,906,299	G/T	—	uncertain significance
rs1307898282	9:139,906,307	C/T	—	uncertain significance
rs201546385	9:139,906,314	C/T	—	likely benign
rs2271862	9:139,906,359	A/G	—	benign
rs2491505191	9:139,906,375	G/C	—	uncertain significance
rs79966110	9:139,906,401	G/A	—	benign
rs764189607	9:139,906,423	A/G	—	uncertain significance
rs751984928	9:139,906,431	G/A	—	likely benign
rs373681636	9:139,906,446	G/A	—	likely benign
rs2271863	9:139,906,513	C/T	—	benign
rs765557399	9:139,906,718	G/A	—	uncertain significance
rs2131436605	9:139,906,751	G/C	—	uncertain significance
rs192038143	9:139,906,828	C/T	—	uncertain significance
rs776287704	9:139,906,971	A/G	—	uncertain significance
rs1461882681	9:139,906,981	C/A	—	uncertain significance
rs149871834	9:139,906,990	C/T	—	likely benign
rs1247035088	9:139,906,998	G/A	—	uncertain significance

Showing 100 of 340 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.