ABCC3
ATP binding cassette subfamily C member 3
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 protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein has not yet been determined; however, this protein may play a role in the transport of biliary and intestinal excretion of organic anions. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
Known Variants99 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4793665 | 17:48,712,087 | C/T | regulatory region variant | — |
| rs201886646 | 17:48,712,336 | G/C | — | likely benign |
| rs4148405 | 17:48,713,568 | T/G | regulatory region variant | — |
| rs62059746 | 17:48,733,187 | C/T | — | likely benign |
| rs2545960099 | 17:48,733,238 | T/G | — | uncertain significance |
| rs145596140 | 17:48,733,288 | C/T | — | likely benign |
| rs1471995922 | 17:48,733,295 | C/T | — | uncertain significance |
| rs553304862 | 17:48,733,317 | G/A | — | uncertain significance |
| rs760576754 | 17:48,733,329 | G/A | — | uncertain significance |
| rs34926034 | 17:48,733,349 | T/C | — | benign |
| rs1187322101 | 17:48,733,353 | T/C | — | uncertain significance |
| rs4148412 | 17:48,733,815 | T/C | intron variant | — |
| rs201309163 | 17:48,734,135 | C/G | — | uncertain significance |
| rs35777968 | 17:48,734,136 | G/A | — | benign |
| rs868620611 | 17:48,734,139 | C/A | — | uncertain significance |
| rs1475394607 | 17:48,734,180 | G/T | — | uncertain significance |
| rs1567828794 | 17:48,734,486 | T/C | — | uncertain significance |
| rs538270581 | 17:48,734,493 | G/A | — | benign |
| rs200670648 | 17:48,735,465 | G/A | — | uncertain significance |
| rs201443043 | 17:48,735,494 | C/G | — | uncertain significance |
| rs739923 | 17:48,735,774 | G/A | intron variant | — |
| rs752016818 | 17:48,735,833 | G/A | — | uncertain significance |
| rs2146609334 | 17:48,736,714 | A/G | — | likely benign |
| rs753736110 | 17:48,738,321 | G/A | — | likely benign |
| rs772064905 | 17:48,738,331 | A/G | — | uncertain significance |
| rs1023011159 | 17:48,738,367 | C/T | — | uncertain significance |
| rs1406547841 | 17:48,741,198 | C/G | — | uncertain significance |
| rs768530696 | 17:48,741,366 | A/G | — | uncertain significance |
| rs2545968784 | 17:48,741,377 | G/T | — | uncertain significance |
| rs142924921 | 17:48,741,390 | G/A | — | likely benign |
| rs368354847 | 17:48,741,417 | A/G | — | uncertain significance |
| rs2545969843 | 17:48,742,520 | G/C | — | uncertain significance |
| rs1967493908 | 17:48,742,536 | C/T | — | uncertain significance |
| rs779015256 | 17:48,742,574 | G/A | — | uncertain significance |
| rs200648160 | 17:48,742,585 | C/T | — | likely benign |
| rs775180789 | 17:48,744,940 | C/T | — | uncertain significance |
| rs779954762 | 17:48,744,975 | A/G | — | uncertain significance |
| rs139425802 | 17:48,744,995 | C/T | — | likely benign |
| rs759429326 | 17:48,745,251 | G/A | — | uncertain significance |
| rs200008481 | 17:48,745,257 | G/A | — | uncertain significance |
| rs768442839 | 17:48,745,797 | G/A | — | uncertain significance |
| rs11568608 | 17:48,745,828 | G/A | missense variant | — |
| rs2545972590 | 17:48,745,874 | C/T | — | likely benign |
| rs2545972962 | 17:48,746,241 | C/T | — | uncertain significance |
| rs765756800 | 17:48,746,541 | G/A | — | uncertain significance |
| rs2545973465 | 17:48,746,714 | G/A | — | uncertain significance |
| rs1320125366 | 17:48,746,726 | A/G | — | uncertain significance |
| rs767722164 | 17:48,746,803 | C/G | — | uncertain significance |
| rs1055418411 | 17:48,746,819 | T/C | — | uncertain significance |
| rs138429197 | 17:48,746,823 | G/T | — | uncertain significance |
| rs373386354 | 17:48,750,403 | T/G | — | uncertain significance |
| rs149910028 | 17:48,750,472 | C/T | — | likely benign |
| rs766002271 | 17:48,750,852 | G/A | — | uncertain significance |
| rs554045968 | 17:48,750,877 | C/A | — | uncertain significance |
| rs1967695755 | 17:48,750,884 | A/T | — | uncertain significance |
| rs767621528 | 17:48,750,887 | G/A | — | uncertain significance |
| rs753903498 | 17:48,750,905 | G/C | — | uncertain significance |
| rs1159971993 | 17:48,750,929 | G/A | — | uncertain significance |
| rs758799663 | 17:48,751,015 | G/T | — | uncertain significance |
| rs373307851 | 17:48,752,732 | G/T | — | uncertain significance |
| rs942407959 | 17:48,752,760 | T/G | — | uncertain significance |
| rs774257178 | 17:48,753,024 | G/A | — | uncertain significance |
| rs753114408 | 17:48,753,032 | C/T | — | uncertain significance |
| rs34502058 | 17:48,753,045 | G/A | — | benign |
| rs138376401 | 17:48,753,065 | G/A | — | uncertain significance |
| rs986524232 | 17:48,753,111 | A/T | — | uncertain significance |
| rs4148416 | 17:48,753,423 | C/T | synonymous variant | — |
| rs372833974 | 17:48,753,442 | A/G | — | uncertain significance |
| rs558924597 | 17:48,753,675 | C/T | — | likely benign |
| rs1330634016 | 17:48,753,681 | G/A | — | uncertain significance |
| rs766311637 | 17:48,753,770 | C/T | — | uncertain significance |
| rs764271392 | 17:48,753,801 | A/G | — | uncertain significance |
| rs759372967 | 17:48,753,884 | A/G | — | likely benign |
| rs760707428 | 17:48,753,892 | C/G | — | uncertain significance |
| rs12943812 | 17:48,754,240 | T/G | — | — |
| rs763250253 | 17:48,755,165 | A/G | — | uncertain significance |
| rs2545982016 | 17:48,755,204 | G/A | — | uncertain significance |
| rs749327914 | 17:48,755,237 | G/C | — | uncertain significance |
| rs768022704 | 17:48,755,279 | T/C | — | uncertain significance |
| rs11568583 | 17:48,755,450 | A/G | — | benign |
| rs1967863551 | 17:48,755,482 | G/A | — | uncertain significance |
| rs11568582 | 17:48,755,517 | C/T | — | likely benign |
| rs1300967530 | 17:48,755,552 | T/C | — | uncertain significance |
| rs777545379 | 17:48,760,987 | A/G | — | uncertain significance |
| rs770794110 | 17:48,760,993 | G/A | — | uncertain significance |
| rs773972809 | 17:48,760,995 | C/T | — | uncertain significance |
| rs371476240 | 17:48,761,017 | C/G | — | uncertain significance |
| rs183576378 | 17:48,761,058 | C/T | — | uncertain significance |
| rs11568589 | 17:48,761,363 | G/A | — | likely benign |
| rs150601692 | 17:48,761,385 | A/G | — | likely benign |
| rs114877000 | 17:48,761,409 | C/T | — | likely benign |
| rs143710549 | 17:48,762,190 | C/T | — | uncertain significance |
| rs559149910 | 17:48,764,916 | G/A | — | uncertain significance |
| rs201242155 | 17:48,764,940 | C/T | — | uncertain significance |
| rs527762615 | 17:48,764,941 | G/A | — | uncertain significance |
| rs2545989145 | 17:48,764,991 | G/C | — | uncertain significance |
| rs757031551 | 17:48,765,021 | C/A | — | uncertain significance |
| rs568559148 | 17:48,766,255 | C/A | — | — |
| rs781289518 | 17:48,768,532 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.