ABCC1

ATP binding cassette subfamily C member 1 (ABCC1 blood group)

Summary

The 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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutatione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternatively spliced variants of this gene have been described but their full-length nature is unknown. [provided by RefSeq, Apr 2012]

Known Variants162 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs4148330	16:16,041,768	G/T	—	—
rs504348	16:16,043,174	C/A	—	—
rs4781699	16:16,049,633	T/C	—	—
rs74475935	16:16,055,106	C/G	regulatory region variant	—
rs246219	16:16,085,635	T/C	intron variant	—
rs119774	16:16,086,833	C/T	intron variant	—
rs4780584	16:16,095,159	C/G	—	—
rs12921623	16:16,096,133	G/C	intron variant	—
rs761719926	16:16,101,673	G/T	—	uncertain significance
rs769528847	16:16,101,674	A/T	—	uncertain significance
rs2508882761	16:16,101,716	A/T	—	uncertain significance
rs762631300	16:16,101,782	A/G	—	uncertain significance
rs2047610961	16:16,101,794	T/C	—	uncertain significance
rs187769078	16:16,101,809	G/A	—	benign
rs7199424	16:16,102,554	G/T	intron variant	—
rs1446142132	16:16,103,653	G/T	—	uncertain significance
rs766733775	16:16,103,657	G/T	—	uncertain significance
rs2508949848	16:16,103,669	G/C	—	uncertain significance
rs8187844	16:16,103,682	C/T	—	benign
rs544482107	16:16,103,685	T/A	—	uncertain significance
rs2047705238	16:16,103,686	C/A	—	uncertain significance
rs1208253577	16:16,103,702	G/A	—	uncertain significance
rs587783373	16:16,108,269	G/A	—	not provided
rs1358279091	16:16,110,399	T/C	—	uncertain significance
rs1278805692	16:16,110,413	A/G	—	likely benign
rs748205302	16:16,110,420	T/G	—	uncertain significance
rs2048006793	16:16,110,440	G/C	—	uncertain significance
rs483352860	16:16,110,459	C/T	—	not provided
rs3784861	16:16,110,848	A/G	—	—
rs3784862	16:16,110,891	G/C	—	—
rs246240	16:16,119,024	A/T	—	—
rs875740	16:16,123,048	C/A	intron variant	—
rs924135	16:16,123,459	A/T	regulatory region variant	—
rs760447045	16:16,126,987	G/T	—	uncertain significance
rs1186656678	16:16,127,009	C/G	—	uncertain significance
rs1041487976	16:16,127,015	G/C	—	uncertain significance
rs2062541	16:16,127,235	G/A	intron variant	—
rs246234	16:16,128,742	C/A	—	—
rs2509512931	16:16,130,333	A/G	—	uncertain significance
rs376223290	16:16,130,334	T/C	—	uncertain significance
rs577514484	16:16,130,360	G/A	—	uncertain significance
rs368336559	16:16,130,411	G/A	—	uncertain significance
rs751704324	16:16,130,417	G/A	—	uncertain significance
rs483352864	16:16,130,476	C/T	—	not provided
rs246223	16:16,137,213	T/C	intron variant	—
rs246221	16:16,138,322	T/G	synonymous variant	—
rs192398298	16:16,138,350	C/A	—	uncertain significance
rs199675371	16:16,138,351	C/T	—	likely benign
rs587783372	16:16,138,352	G/A	—	not provided
rs201807299	16:16,138,502	C/T	—	likely benign
rs8187853	16:16,139,720	G/A	—	benign
rs483352877	16:16,139,879	C/T	—	likely benign
rs35591	16:16,141,810	C/A	—	—
rs35592	16:16,141,823	T/C	intron variant	—
rs77428024	16:16,142,015	A/G	—	likely benign
rs1366727153	16:16,142,060	T/C	—	uncertain significance
rs60782127	16:16,142,079	G/T	—	benign
rs377285314	16:16,142,136	C/G	—	uncertain significance
rs8187856	16:16,146,576	C/G	—	benign
rs1276682146	16:16,146,626	A/G	—	uncertain significance
rs3765129	16:16,149,901	C/T	intron variant	—
rs371628202	16:16,150,004	A/G	—	uncertain significance
rs483352863	16:16,161,979	G/A	—	not provided
rs35605	16:16,162,019	T/C	synonymous variant	—
rs8187858	16:16,162,039	C/T	synonymous variant	—
rs912574228	16:16,162,061	A/T	—	uncertain significance
rs199797323	16:16,162,104	A/G	—	pathogenic
rs2509987074	16:16,165,512	T/C	—	uncertain significance
rs1452821953	16:16,165,553	C/G	—	uncertain significance
rs112282109	16:16,165,572	G/A	—	likely benign
rs768379870	16:16,165,579	C/A	—	likely benign
rs8187859	16:16,165,585	C/T	—	likely benign
rs35621	16:16,168,608	C/T	regulatory region variant	—
rs35623	16:16,169,465	G/T	intron variant	uncertain significance
rs35625	16:16,169,566	C/T	—	uncertain significance
rs11866794	16:16,169,574	G/A	—	uncertain significance
rs539166124	16:16,170,185	G/A	—	uncertain significance
rs368963584	16:16,170,265	C/T	—	likely benign
rs4148350	16:16,170,477	T/G	—	uncertain significance
rs4148351	16:16,170,568	C/T	intron variant	uncertain significance
rs35626	16:16,170,615	G/T	intron variant	uncertain significance
rs35628	16:16,171,106	A/G	intron variant	association
rs4148353	16:16,171,148	G/T	intron variant	association
rs757045428	16:16,173,218	C/T	—	likely benign
rs45511401	16:16,173,232	G/T	missense variant	drug response
rs778317375	16:16,177,228	C/T	—	likely benign
rs760898018	16:16,177,274	C/G	—	uncertain significance
rs4148356	16:16,177,275	G/A	missense variant	uncertain significance
rs763841979	16:16,177,379	C/G	—	uncertain significance
rs201247127	16:16,177,393	C/T	—	likely benign
rs11075295	16:16,177,687	G/A	—	uncertain significance
rs376727124	16:16,180,732	G/A	—	uncertain significance
rs3888565	16:16,183,045	G/A	—	association
rs3851711	16:16,183,087	T/C	—	uncertain significance
rs774934941	16:16,184,279	G/A	—	likely benign
rs760139672	16:16,184,293	A/G	—	uncertain significance
rs28364004	16:16,184,366	G/T	—	benign
rs201516415	16:16,184,384	C/T	—	likely benign
rs2510182718	16:16,184,399	G/C	—	likely benign
rs778539912	16:16,184,401	G/A	—	uncertain significance

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

Gene information from NCBI Gene. Variant classifications from ClinVar.