MMEL1
membrane metalloendopeptidase like 1
Summary
The protein encoded by this gene is a member of the neutral endopeptidase (NEP) or membrane metallo-endopeptidase (MME) family. Family members play important roles in pain perception, arterial pressure regulation, phosphate metabolism and homeostasis. This protein is a type II transmembrane protein and is thought to be expressed as a secreted protein. This gene is expressed mainly in testis with weak expression in the brain, kidney, and heart. [provided by RefSeq, Jul 2008]
Known Variants77 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs374880430 | 1:2,522,458 | G/A | — | uncertain significance |
| rs754496396 | 1:2,522,466 | G/T | — | uncertain significance |
| rs200511970 | 1:2,522,473 | G/A | — | uncertain significance |
| rs1166339125 | 1:2,522,481 | T/C | — | uncertain significance |
| rs145991999 | 1:2,522,483 | G/T | — | uncertain significance |
| rs768660642 | 1:2,522,494 | C/T | — | uncertain significance |
| rs2522814898 | 1:2,523,005 | A/G | — | uncertain significance |
| rs199987335 | 1:2,523,018 | C/T | — | uncertain significance |
| rs74867920 | 1:2,523,042 | C/T | — | uncertain significance |
| rs750186428 | 1:2,523,063 | C/T | — | uncertain significance |
| rs148615446 | 1:2,523,361 | C/T | — | benign |
| rs144423087 | 1:2,523,412 | C/T | — | benign |
| rs756379040 | 1:2,523,451 | T/C | — | uncertain significance |
| rs187786174 | 1:2,523,811 | G/A | downstream gene variant | — |
| rs149776280 | 1:2,524,128 | A/G | — | likely benign |
| rs1314400305 | 1:2,524,137 | C/G | — | uncertain significance |
| rs115709124 | 1:2,524,164 | G/A | — | benign |
| rs202083467 | 1:2,524,295 | A/G | — | uncertain significance |
| rs1221620315 | 1:2,524,316 | A/G | — | likely benign |
| rs753457350 | 1:2,524,321 | A/G | — | uncertain significance |
| rs373572981 | 1:2,524,360 | T/G | — | uncertain significance |
| rs1291925106 | 1:2,524,392 | G/T | — | uncertain significance |
| rs12564460 | 1:2,524,895 | G/C | downstream gene variant | — |
| rs61729819 | 1:2,525,272 | C/T | — | benign |
| rs368869210 | 1:2,525,286 | C/T | — | uncertain significance |
| rs3748817 | 1:2,525,665 | T/G | — | — |
| rs1219173499 | 1:2,525,860 | C/T | — | uncertain significance |
| rs888284522 | 1:2,525,865 | G/A | — | uncertain significance |
| rs568619305 | 1:2,526,275 | C/T | — | uncertain significance |
| rs373578113 | 1:2,526,737 | C/T | — | likely benign |
| rs3748816 | 1:2,526,746 | A/C | missense variant | — |
| rs778548985 | 1:2,526,785 | C/T | — | uncertain significance |
| rs777637843 | 1:2,526,790 | G/C | — | uncertain significance |
| rs12406796 | 1:2,527,457 | C/T | — | benign |
| rs35601812 | 1:2,527,472 | C/T | — | benign |
| rs373436929 | 1:2,527,495 | C/G | — | uncertain significance |
| rs1467775899 | 1:2,527,528 | T/C | — | uncertain significance |
| rs770771638 | 1:2,528,053 | C/T | — | uncertain significance |
| rs899777651 | 1:2,529,698 | C/A | — | uncertain significance |
| rs766629664 | 1:2,529,713 | C/T | — | uncertain significance |
| rs1270368441 | 1:2,530,112 | T/A | — | uncertain significance |
| rs574560149 | 1:2,530,187 | C/T | — | uncertain significance |
| rs1570660084 | 1:2,530,196 | G/A | — | likely benign |
| rs149350444 | 1:2,530,221 | G/T | — | uncertain significance |
| rs6664969 | 1:2,534,978 | G/T | — | — |
| rs2522864093 | 1:2,535,357 | C/G | — | uncertain significance |
| rs758215874 | 1:2,535,363 | C/T | — | uncertain significance |
| rs749514515 | 1:2,535,382 | C/T | — | uncertain significance |
| rs114540215 | 1:2,535,632 | T/A | — | uncertain significance |
| rs2522866847 | 1:2,535,669 | C/T | — | uncertain significance |
| rs1644983907 | 1:2,535,671 | C/A | — | uncertain significance |
| rs138787733 | 1:2,535,679 | C/T | — | likely benign |
| rs2522871334 | 1:2,537,019 | A/C | — | uncertain significance |
| rs751258199 | 1:2,537,031 | C/T | — | uncertain significance |
| rs138340138 | 1:2,537,041 | T/G | — | benign |
| rs372890618 | 1:2,537,737 | C/T | — | uncertain significance |
| rs1277542910 | 1:2,537,770 | T/A | — | uncertain significance |
| rs369377247 | 1:2,537,774 | C/T | — | likely benign |
| rs80219670 | 1:2,537,801 | G/A | — | benign |
| rs376308719 | 1:2,540,796 | G/T | — | uncertain significance |
| rs367879168 | 1:2,541,130 | C/T | — | uncertain significance |
| rs754317660 | 1:2,541,131 | G/T | — | uncertain significance |
| rs931168046 | 1:2,541,181 | C/T | — | uncertain significance |
| rs781512158 | 1:2,542,732 | A/C | — | uncertain significance |
| rs1344964128 | 1:2,542,754 | G/T | — | uncertain significance |
| rs1645139725 | 1:2,543,572 | G/A | — | uncertain significance |
| rs891290574 | 1:2,543,602 | G/T | — | likely benign |
| rs6684865 | 1:2,546,229 | G/A | intron variant | — |
| rs3890745 | 1:2,553,624 | T/C | intron variant | — |
| rs28568531 | 1:2,555,640 | T/A | intron variant | — |
| rs6422657 | 1:2,557,531 | C/T | intron variant | — |
| rs780812154 | 1:2,560,841 | C/A | — | uncertain significance |
| rs760779285 | 1:2,560,859 | G/A | — | uncertain significance |
| rs753052253 | 1:2,560,878 | G/A | — | uncertain significance |
| rs4648658 | 1:2,560,882 | G/A | — | benign |
| rs556818182 | 1:2,560,898 | C/G | — | uncertain significance |
| rs4648659 | 1:2,560,903 | T/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.