MOCS1
molybdenum cofactor synthesis 1
Summary
Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum. The protein encoded by this gene is involved in this pathway. This gene was originally thought to produce a bicistronic mRNA with the potential to produce two proteins (MOCS1A and MOCS1B) from adjacent open reading frames. However, only the first open reading frame (MOCS1A) has been found to encode a protein from the putative bicistronic mRNA, whereas additional splice variants are likely to produce a fusion between the two open reading frames. This gene is defective in patients with molybdenum cofactor deficiency, type A. A related pseudogene has been identified on chromosome 16. [provided by RefSeq, Nov 2017]
Known Variants557 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs527715928 | 6:39,872,059 | T/C | — | uncertain significance |
| rs189856931 | 6:39,872,179 | C/T | — | uncertain significance |
| rs764671362 | 6:39,872,191 | G/A | — | uncertain significance |
| rs73414848 | 6:39,872,205 | G/C | — | benign |
| rs73732316 | 6:39,872,224 | T/C | — | likely benign |
| rs3008816 | 6:39,872,240 | C/G | — | benign |
| rs764874736 | 6:39,872,249 | C/T | — | uncertain significance |
| rs886061378 | 6:39,872,255 | C/T | — | uncertain significance |
| rs193217053 | 6:39,872,276 | C/T | — | uncertain significance |
| rs1466775644 | 6:39,872,298 | A/C | — | uncertain significance |
| rs757660047 | 6:39,872,301 | C/T | — | uncertain significance |
| rs752267060 | 6:39,872,325 | C/T | — | uncertain significance |
| rs1291765153 | 6:39,872,381 | G/C | — | uncertain significance |
| rs886061379 | 6:39,872,422 | C/T | — | uncertain significance |
| rs3793137 | 6:39,872,504 | C/A | — | likely benign |
| rs766403739 | 6:39,872,505 | G/A | — | uncertain significance |
| rs966816102 | 6:39,872,631 | T/C | — | uncertain significance |
| rs575187638 | 6:39,872,688 | G/A | — | uncertain significance |
| rs886061380 | 6:39,872,697 | G/A | — | uncertain significance |
| rs745650301 | 6:39,872,700 | A/T | — | uncertain significance |
| rs151159237 | 6:39,872,709 | G/C | — | likely benign |
| rs3749998 | 6:39,872,728 | C/G | — | benign |
| rs1766761624 | 6:39,872,792 | A/T | — | uncertain significance |
| rs3749999 | 6:39,872,799 | T/G | — | benign |
| rs1038982726 | 6:39,872,826 | T/C | — | uncertain significance |
| rs7744483 | 6:39,872,828 | G/A | — | uncertain significance |
| rs60326448 | 6:39,872,997 | G/T | — | benign |
| rs886061381 | 6:39,873,016 | T/G | — | uncertain significance |
| rs3828937 | 6:39,873,020 | A/C | — | benign |
| rs754337805 | 6:39,873,066 | T/G | — | uncertain significance |
| rs886061383 | 6:39,873,070 | A/T | — | uncertain significance |
| rs1766803869 | 6:39,873,087 | T/A | — | uncertain significance |
| rs374341048 | 6:39,873,130 | C/T | — | uncertain significance |
| rs115706925 | 6:39,873,131 | G/A | — | benign |
| rs192141515 | 6:39,873,143 | A/G | — | likely benign |
| rs7758412 | 6:39,873,146 | G/A | — | benign |
| rs201675490 | 6:39,873,245 | G/A | — | uncertain significance |
| rs56355907 | 6:39,873,307 | G/T | — | likely benign |
| rs11968491 | 6:39,873,309 | G/C | — | benign |
| rs990062943 | 6:39,873,330 | G/A | — | uncertain significance |
| rs115429345 | 6:39,873,371 | C/T | — | uncertain significance |
| rs745583636 | 6:39,873,377 | T/G | — | uncertain significance |
| rs886061385 | 6:39,873,394 | G/A | — | uncertain significance |
| rs1063171 | 6:39,873,399 | G/C | — | benign |
| rs148100667 | 6:39,873,469 | A/G | — | uncertain significance |
| rs142815887 | 6:39,873,474 | T/C | — | uncertain significance |
| rs886061386 | 6:39,873,495 | G/C | — | uncertain significance |
| rs757366588 | 6:39,873,500 | G/A | — | uncertain significance |
| rs147395035 | 6:39,873,555 | A/G | — | benign |
| rs11963579 | 6:39,873,610 | A/G | — | uncertain significance |
| rs184315150 | 6:39,873,656 | G/A | — | uncertain significance |
| rs41273136 | 6:39,873,682 | A/G | — | benign |
| rs886061387 | 6:39,873,710 | G/T | — | uncertain significance |
| rs764443066 | 6:39,873,733 | G/A | — | uncertain significance |
| rs11968529 | 6:39,873,755 | C/T | — | benign |
| rs112129067 | 6:39,873,806 | C/T | — | likely benign |
| rs554733904 | 6:39,873,807 | G/A | — | uncertain significance |
| rs200673409 | 6:39,873,851 | A/G | — | uncertain significance |
| rs751006327 | 6:39,873,991 | G/C | — | uncertain significance |
| rs370974142 | 6:39,873,998 | A/C | — | uncertain significance |
| rs188611081 | 6:39,874,013 | G/A | — | likely benign |
| rs752606397 | 6:39,874,049 | T/C | — | uncertain significance |
| rs1766923347 | 6:39,874,057 | A/G | — | uncertain significance |
| rs767003803 | 6:39,874,131 | T/C | — | uncertain significance |
| rs2482249172 | 6:39,874,137 | G/A | — | uncertain significance |
| rs180953829 | 6:39,874,140 | C/T | — | uncertain significance |
| rs1332360995 | 6:39,874,150 | C/T | — | uncertain significance |
| rs2482249496 | 6:39,874,153 | C/T | — | uncertain significance |
| rs375813466 | 6:39,874,155 | C/G | — | uncertain significance |
| rs745903344 | 6:39,874,156 | G/A | — | uncertain significance |
| rs1220923207 | 6:39,874,163 | A/C | — | likely benign |
| rs1184835713 | 6:39,874,176 | A/G | — | uncertain significance |
| rs1766939352 | 6:39,874,184 | G/T | — | likely benign |
| rs761737107 | 6:39,874,190 | C/T | — | likely benign |
| rs767373781 | 6:39,874,191 | T/C | — | uncertain significance |
| rs543129280 | 6:39,874,196 | C/T | — | likely benign |
| rs369986858 | 6:39,874,221 | C/T | — | uncertain significance |
| rs753497618 | 6:39,874,222 | A/G | — | uncertain significance |
| rs2482250314 | 6:39,874,227 | T/C | — | uncertain significance |
| rs1766944569 | 6:39,874,229 | A/G | — | likely benign |
| rs764538311 | 6:39,874,235 | G/C | — | likely benign |
| rs752035322 | 6:39,874,238 | G/A | — | likely benign |
| rs2482250482 | 6:39,874,239 | A/G | — | uncertain significance |
| rs537163552 | 6:39,874,243 | C/T | — | uncertain significance |
| rs41273138 | 6:39,874,244 | G/A | — | benign |
| rs2482250805 | 6:39,874,254 | G/A | — | uncertain significance |
| rs200764011 | 6:39,874,256 | A/C | — | conflicting classifications of pathogenicity |
| rs2482250906 | 6:39,874,259 | G/C | — | likely benign |
| rs577245246 | 6:39,874,264 | G/C | — | likely benign |
| rs1278886671 | 6:39,874,280 | C/T | — | uncertain significance |
| rs773157529 | 6:39,874,283 | G/C | — | likely benign |
| rs77225343 | 6:39,874,292 | C/T | — | likely benign |
| rs764926640 | 6:39,874,293 | C/T | — | uncertain significance |
| rs111379764 | 6:39,874,294 | G/A | — | uncertain significance |
| rs2482252296 | 6:39,874,295 | A/G | — | likely benign |
| rs553080692 | 6:39,874,298 | C/G | — | likely benign |
| rs762229041 | 6:39,874,299 | C/A | — | uncertain significance |
| rs146849119 | 6:39,874,300 | G/C | — | uncertain significance |
| rs1766956058 | 6:39,874,309 | C/T | — | uncertain significance |
| rs938403965 | 6:39,874,321 | C/T | — | uncertain significance |
Showing 100 of 557 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.