AOPEP
aminopeptidase O (putative)
Summary
This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs414253 | 9:97,487,022 | A/G | regulatory region variant | — |
| rs76814585 | 9:97,495,527 | T/C | intron variant | — |
| rs201706364 | 9:97,522,192 | A/G | — | uncertain significance |
| rs761327668 | 9:97,522,207 | G/A | — | uncertain significance |
| rs370247076 | 9:97,522,315 | G/A | — | uncertain significance |
| rs118018100 | 9:97,522,373 | G/A | — | benign |
| rs1837920795 | 9:97,522,412 | A/G | — | uncertain significance |
| rs1463680603 | 9:97,522,679 | A/G | — | uncertain significance |
| rs776739942 | 9:97,522,768 | C/T | — | likely pathogenic |
| rs779393035 | 9:97,522,828 | C/T | — | likely pathogenic |
| rs16911681 | 9:97,522,829 | G/T | missense variant | — |
| rs1043405296 | 9:97,522,842 | G/A | — | pathogenic |
| rs12337706 | 9:97,523,154 | A/G | intron variant | — |
| rs2540340757 | 9:97,535,452 | T/G | — | pathogenic |
| rs2538539280 | 9:97,563,126 | C/G | — | likely benign |
| rs773215566 | 9:97,563,273 | G/A | — | likely benign |
| rs35487382 | 9:97,585,788 | A/G | upstream gene variant | — |
| rs140564406 | 9:97,593,262 | T/C | — | — |
| rs140603570 | 9:97,604,563 | G/T | intron variant | — |
| rs6479579 | 9:97,636,198 | T/G | — | — |
| rs141301535 | 9:97,642,882 | C/G | intron variant | — |
| rs575733167 | 9:97,686,308 | G/A | — | uncertain significance |
| rs577000059 | 9:97,686,380 | C/T | — | pathogenic |
| rs960335746 | 9:97,686,416 | G/A | — | uncertain significance |
| rs4744411 | 9:97,689,045 | G/T | — | — |
| rs1019446111 | 9:97,690,761 | C/T | — | uncertain significance |
| rs545129535 | 9:97,690,793 | C/T | — | likely benign |
| rs10821415 | 9:97,713,459 | C/A | regulatory region variant | — |
| rs913767520 | 9:97,717,533 | A/G | — | uncertain significance |
| rs2542688292 | 9:97,717,553 | T/C | — | uncertain significance |
| rs146337789 | 9:97,718,205 | C/T | missense variant | — |
| rs7864171 | 9:97,723,266 | G/T | — | — |
| rs537968929 | 9:97,726,109 | G/T | — | — |
| rs72750344 | 9:97,730,244 | C/A | intron variant | — |
| rs1004813 | 9:97,741,066 | T/A | intron variant | — |
| rs3802458 | 9:97,741,274 | A/G | intron variant | — |
| rs3802457 | 9:97,741,336 | G/A | intron variant | — |
| rs1263956569 | 9:97,767,479 | C/T | — | uncertain significance |
| rs147288039 | 9:97,768,758 | A/G | regulatory region variant | — |
| rs1412488 | 9:97,780,363 | C/G | regulatory region variant | — |
| rs7046845 | 9:97,804,641 | A/C | intron variant | — |
| rs76326161 | 9:97,812,838 | T/A | intron variant | — |
| rs10121760 | 9:97,828,989 | T/C | intron variant | — |
| rs143074032 | 9:97,843,013 | A/G | — | uncertain significance |
| rs752541021 | 9:97,843,043 | G/A | — | uncertain significance |
| rs939421378 | 9:97,843,044 | G/T | — | uncertain significance |
| rs41281194 | 9:97,844,853 | G/A | — | likely benign |
| rs145969368 | 9:97,844,938 | C/T | — | uncertain significance |
| rs137908951 | 9:97,847,848 | C/T | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.