NPEPPS
aminopeptidase puromycin sensitive
Summary
This gene encodes the puromycin-sensitive aminopeptidase, a zinc metallopeptidase which hydrolyzes amino acids from the N-terminus of its substrate. The protein has been localized to both the cytoplasm and to cellular membranes. This enzyme degrades enkaphalins in the brain, and studies in mouse suggest that it is involved in proteolytic events regulating the cell cycle. [provided by RefSeq, Jul 2008]
Known Variants63 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs62073965 | 17:45,599,591 | T/A | — | — |
| rs2935183 | 17:45,607,572 | T/A | — | — |
| rs8077485 | 17:45,608,326 | A/C | regulatory region variant | — |
| rs2508860241 | 17:45,608,704 | G/T | — | uncertain significance |
| rs1907746365 | 17:45,608,710 | T/C | — | uncertain significance |
| rs1907751929 | 17:45,608,748 | G/C | — | likely benign |
| rs2508860403 | 17:45,608,751 | T/C | — | likely benign |
| rs778878338 | 17:45,608,775 | C/T | — | uncertain significance |
| rs200065879 | 17:45,608,784 | C/T | — | benign |
| rs201212390 | 17:45,608,885 | C/T | — | likely benign |
| rs752623748 | 17:45,608,920 | A/G | — | uncertain significance |
| rs62073968 | 17:45,609,270 | T/G | regulatory region variant | — |
| rs549258056 | 17:45,609,550 | C/T | — | — |
| rs8079821 | 17:45,611,704 | T/A | — | — |
| rs11869730 | 17:45,614,763 | T/G | — | — |
| rs77478212 | 17:45,615,649 | C/T | — | — |
| rs149972127 | 17:45,615,666 | C/T | intron variant | — |
| rs4794287 | 17:45,617,505 | T/G | regulatory region variant | — |
| rs12451766 | 17:45,621,261 | A/C | — | — |
| rs995781040 | 17:45,623,268 | C/T | — | likely benign |
| rs4794372 | 17:45,627,760 | G/T | — | — |
| rs36043200 | 17:45,629,406 | G/A | intron variant | — |
| rs9989466 | 17:45,635,239 | C/T | downstream gene variant | — |
| rs11868058 | 17:45,640,405 | G/T | intron variant | — |
| rs151315594 | 17:45,649,397 | T/C | intron variant | — |
| rs12603290 | 17:45,650,196 | T/C | intron variant | — |
| rs538903106 | 17:45,651,768 | T/A | — | — |
| rs8077106 | 17:45,653,291 | T/G | intron variant | — |
| rs141415719 | 17:45,654,184 | G/A | intron variant | — |
| rs1236386989 | 17:45,660,189 | A/G | — | uncertain significance |
| rs10445374 | 17:45,662,383 | T/A | — | — |
| rs763445892 | 17:45,662,890 | C/T | — | uncertain significance |
| rs2143852920 | 17:45,663,032 | T/C | — | uncertain significance |
| rs372187657 | 17:45,664,605 | A/G | — | benign |
| rs145829042 | 17:45,664,686 | A/G | — | benign |
| rs2611867 | 17:45,664,861 | A/G | — | — |
| rs117952616 | 17:45,666,998 | T/C | intron variant | — |
| rs200948229 | 17:45,668,075 | G/C | — | benign |
| rs766544766 | 17:45,668,204 | G/A | — | uncertain significance |
| rs1374502129 | 17:45,668,242 | A/G | — | uncertain significance |
| rs62074014 | 17:45,668,509 | A/G | intron variant | — |
| rs774109901 | 17:45,669,416 | T/C | — | uncertain significance |
| rs3865314 | 17:45,669,524 | A/T | — | — |
| rs4793836 | 17:45,670,312 | G/A | intron variant | — |
| rs200095837 | 17:45,673,812 | A/G | — | uncertain significance |
| rs8072100 | 17:45,674,687 | A/T | intron variant | — |
| rs370170213 | 17:45,677,045 | G/A | — | uncertain significance |
| rs2508813361 | 17:45,679,037 | C/G | — | uncertain significance |
| rs1432596669 | 17:45,679,078 | G/A | — | uncertain significance |
| rs2508818734 | 17:45,681,308 | C/T | — | uncertain significance |
| rs368712014 | 17:45,681,320 | A/T | — | uncertain significance |
| rs780489427 | 17:45,682,828 | A/G | — | uncertain significance |
| rs117201874 | 17:45,688,849 | G/T | intron variant | — |
| rs368658252 | 17:45,689,888 | G/A | — | uncertain significance |
| rs375012383 | 17:45,689,909 | C/T | — | uncertain significance |
| rs145082307 | 17:45,691,031 | G/T | — | benign |
| rs2508838857 | 17:45,691,039 | A/T | — | uncertain significance |
| rs373373883 | 17:45,695,764 | G/A | — | uncertain significance |
| rs368913646 | 17:45,695,773 | G/A | — | uncertain significance |
| rs7207542 | 17:45,697,549 | C/A | — | — |
| rs34598464 | 17:45,699,143 | G/C | — | uncertain significance |
| rs201842079 | 17:45,699,261 | G/A | — | uncertain significance |
| rs767101980 | 17:45,699,830 | T/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.