ABCA12

ATP binding cassette subfamily A member 12

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, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

Known Variants1,293 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs946287981	2:215,796,450	C/G	—	uncertain significance
rs73088446	2:215,796,477	A/G	—	benign
rs143075508	2:215,796,514	G/A	—	uncertain significance
rs886055602	2:215,796,548	T/C	—	uncertain significance
rs12694349	2:215,796,568	T/C	—	benign
rs147463711	2:215,796,626	C/T	—	uncertain significance
rs1698069869	2:215,796,634	C/T	—	uncertain significance
rs180771753	2:215,796,638	C/G	—	uncertain significance
rs1559096471	2:215,796,645	A/C	—	uncertain significance
rs191323693	2:215,796,694	G/C	—	uncertain significance
rs530493676	2:215,796,784	G/A	—	uncertain significance
rs183185732	2:215,796,806	C/T	—	uncertain significance
rs77729645	2:215,796,873	A/G	—	benign
rs996140169	2:215,796,893	C/T	—	uncertain significance
rs886055603	2:215,796,962	G/A	—	uncertain significance
rs886055604	2:215,796,980	C/G	—	uncertain significance
rs750719136	2:215,796,993	C/G	—	uncertain significance
rs1174723426	2:215,797,014	A/G	—	uncertain significance
rs368041060	2:215,797,048	T/C	—	benign
rs1046805512	2:215,797,083	G/T	—	uncertain significance
rs17426207	2:215,797,332	C/T	—	benign
rs2469088779	2:215,797,358	T/C	—	likely benign
rs1441177834	2:215,797,366	C/T	—	uncertain significance
rs371138932	2:215,797,396	T/G	—	likely benign
rs1346178216	2:215,797,397	A/G	—	likely benign
rs138260707	2:215,797,404	C/A	—	likely benign
rs534593648	2:215,797,415	G/A	—	likely benign
rs199846944	2:215,797,431	T/C	—	uncertain significance
rs2469089258	2:215,797,469	A/G	—	likely benign
rs943295	2:215,798,724	A/C	—	benign
rs368174220	2:215,798,786	G/A	—	likely benign
rs1314762325	2:215,798,788	G/A	—	likely benign
rs750005163	2:215,798,789	G/C	—	likely benign
rs368505174	2:215,798,794	T/C	—	likely benign
rs1559098040	2:215,798,809	A/G	—	uncertain significance
rs928244078	2:215,798,814	G/T	—	likely benign
rs2469093409	2:215,798,820	A/G	—	likely benign
rs754571047	2:215,798,823	C/T	—	likely benign
rs2469093438	2:215,798,832	A/G	—	likely benign
rs146834697	2:215,798,851	G/A	—	conflicting classifications of pathogenicity
rs2469093540	2:215,798,877	A/T	—	likely benign
rs2105907205	2:215,798,884	G/T	—	uncertain significance
rs140033094	2:215,798,885	C/T	—	conflicting classifications of pathogenicity
rs372152172	2:215,798,886	G/A	—	conflicting classifications of pathogenicity
rs781283793	2:215,798,889	T/G	—	likely benign
rs990165100	2:215,798,901	G/A	—	likely benign
rs1281321207	2:215,798,910	A/G	—	likely benign
rs774329868	2:215,798,916	C/T	—	benign
rs761681332	2:215,798,919	T/C	—	likely benign
rs772160019	2:215,798,954	G/C	—	likely benign
rs375199055	2:215,798,956	A/G	—	likely benign
rs2469093836	2:215,798,958	A/G	—	likely benign
rs2469093841	2:215,798,959	A/T	—	likely benign
rs1256351586	2:215,802,214	A/G	—	likely benign
rs575800965	2:215,802,215	C/A	—	likely benign
rs1194004728	2:215,802,218	A/C	—	likely benign
rs370013135	2:215,802,221	C/T	—	likely benign
rs2469102293	2:215,802,227	C/T	—	likely benign
rs2469102307	2:215,802,233	C/T	—	likely pathogenic
rs368978989	2:215,802,261	C/T	—	likely benign
rs747030042	2:215,802,280	G/T	—	uncertain significance
rs543222287	2:215,802,303	C/T	—	likely benign
rs149561952	2:215,802,308	A/G	—	conflicting classifications of pathogenicity
rs764899391	2:215,802,314	C/T	—	uncertain significance
rs1417208185	2:215,802,321	A/G	—	likely benign
rs199503269	2:215,802,332	G/A	stop gained	pathogenic
rs149660639	2:215,802,333	T/A	—	likely benign
rs756225842	2:215,802,346	A/T	—	likely benign
rs1021008360	2:215,802,347	G/C	—	likely benign
rs1022481655	2:215,807,629	G/A	—	likely benign
rs765231909	2:215,807,632	A/G	—	likely benign
rs577863211	2:215,807,634	G/A	—	conflicting classifications of pathogenicity
rs2469118679	2:215,807,635	C/G	—	likely benign
rs2469118695	2:215,807,640	G/C	—	likely benign
rs750832130	2:215,807,676	A/G	—	uncertain significance
rs2105917488	2:215,807,680	A/G	—	likely pathogenic
rs2469118826	2:215,807,681	T/C	—	likely benign
rs2469118863	2:215,807,690	T/C	—	likely benign
rs2469118868	2:215,807,693	A/G	—	likely benign
rs202031511	2:215,807,696	C/T	—	conflicting classifications of pathogenicity
rs373955277	2:215,807,699	C/G	—	uncertain significance
rs1574926336	2:215,807,710	A/G	—	likely benign
rs150618783	2:215,807,718	C/G	—	likely benign
rs2105917562	2:215,807,742	C/G	—	pathogenic
rs371364269	2:215,807,748	G/T	—	likely benign
rs779580419	2:215,807,757	G/A	—	likely benign
rs780915400	2:215,809,710	T/G	—	likely benign
rs558578913	2:215,809,713	C/T	—	likely benign
rs576859285	2:215,809,715	C/T	—	likely benign
rs200488843	2:215,809,717	C/T	—	likely benign
rs2469125660	2:215,809,735	T/C	—	uncertain significance
rs148434996	2:215,809,744	C/T	—	conflicting classifications of pathogenicity
rs767987074	2:215,809,745	G/A	—	likely benign
rs1299216744	2:215,809,751	T/C	—	likely benign
rs1308077743	2:215,809,754	G/A	—	likely benign
rs2469125863	2:215,809,772	A/G	—	likely benign
rs761068277	2:215,809,791	C/T	—	likely pathogenic
rs771593783	2:215,809,792	G/A	—	conflicting classifications of pathogenicity
rs150309991	2:215,809,796	C/T	—	likely benign
rs925844991	2:215,809,797	G/A	—	uncertain significance

Showing 100 of 1,293 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.