SELENOO
selenoprotein O
Summary
This gene encodes a selenoprotein that is localized to the mitochondria. It is the largest mammalian selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. The exact function of this selenoprotein is not known, but it is thought to have redox activity. [provided by RefSeq, Dec 2016]
Known Variants87 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1009610 | 22:50,638,953 | A/C | coding sequence variant | — |
| rs574168786 | 22:50,639,470 | C/T | — | uncertain significance |
| rs954386060 | 22:50,639,487 | C/G | — | uncertain significance |
| rs1374032880 | 22:50,639,490 | G/C | — | uncertain significance |
| rs1472744659 | 22:50,639,491 | G/A | — | uncertain significance |
| rs1263493785 | 22:50,639,550 | C/T | — | uncertain significance |
| rs528120489 | 22:50,639,570 | C/G | — | likely benign |
| rs1407906213 | 22:50,639,577 | A/G | — | uncertain significance |
| rs2064296130 | 22:50,639,593 | G/C | — | uncertain significance |
| rs889958452 | 22:50,639,625 | G/T | — | uncertain significance |
| rs1316908755 | 22:50,639,674 | C/T | — | uncertain significance |
| rs1211155589 | 22:50,639,728 | C/T | — | uncertain significance |
| rs2519090529 | 22:50,639,746 | G/A | — | uncertain significance |
| rs1372124250 | 22:50,639,765 | G/T | — | uncertain significance |
| rs753992805 | 22:50,639,770 | C/T | — | uncertain significance |
| rs184575812 | 22:50,639,784 | G/A | — | uncertain significance |
| rs2519090779 | 22:50,639,806 | G/A | — | uncertain significance |
| rs897355754 | 22:50,639,810 | G/T | — | uncertain significance |
| rs750577534 | 22:50,639,817 | G/T | — | uncertain significance |
| rs1385096181 | 22:50,639,826 | G/T | — | uncertain significance |
| rs755870385 | 22:50,639,841 | G/A | — | uncertain significance |
| rs1206601581 | 22:50,639,845 | A/G | — | uncertain significance |
| rs1242539325 | 22:50,639,862 | G/T | — | uncertain significance |
| rs753793332 | 22:50,639,875 | C/T | — | uncertain significance |
| rs1381282904 | 22:50,639,906 | G/C | — | uncertain significance |
| rs2519091521 | 22:50,639,964 | A/G | — | likely benign |
| rs1277308583 | 22:50,639,968 | G/A | — | uncertain significance |
| rs1193254499 | 22:50,640,015 | T/C | — | uncertain significance |
| rs769253863 | 22:50,644,772 | G/A | — | uncertain significance |
| rs201752848 | 22:50,644,783 | C/T | — | uncertain significance |
| rs763880889 | 22:50,644,861 | T/G | — | uncertain significance |
| rs1362834633 | 22:50,644,862 | C/T | — | uncertain significance |
| rs377092978 | 22:50,644,876 | G/A | — | uncertain significance |
| rs200964762 | 22:50,644,879 | G/A | — | uncertain significance |
| rs1453602249 | 22:50,644,910 | A/C | — | uncertain significance |
| rs765180742 | 22:50,644,921 | G/C | — | uncertain significance |
| rs765693822 | 22:50,647,005 | A/G | — | uncertain significance |
| rs200468030 | 22:50,647,012 | G/A | — | uncertain significance |
| rs141180808 | 22:50,647,086 | G/A | — | conflicting classifications of pathogenicity |
| rs375249006 | 22:50,647,116 | G/A | — | uncertain significance |
| rs780144198 | 22:50,647,141 | G/A | — | uncertain significance |
| rs375363660 | 22:50,648,616 | C/G | — | uncertain significance |
| rs543629121 | 22:50,648,628 | C/T | — | likely benign |
| rs367633071 | 22:50,648,629 | G/A | — | uncertain significance |
| rs747525320 | 22:50,648,640 | G/A | — | uncertain significance |
| rs201643496 | 22:50,648,641 | A/G | — | uncertain significance |
| rs763930780 | 22:50,648,670 | G/A | — | uncertain significance |
| rs780133528 | 22:50,648,682 | G/A | — | uncertain significance |
| rs749879227 | 22:50,648,688 | A/G | — | uncertain significance |
| rs775166076 | 22:50,649,070 | G/A | — | uncertain significance |
| rs373024917 | 22:50,649,091 | G/A | — | uncertain significance |
| rs749302718 | 22:50,649,100 | G/A | — | uncertain significance |
| rs187774731 | 22:50,649,103 | C/T | — | uncertain significance |
| rs750808619 | 22:50,649,127 | G/A | — | uncertain significance |
| rs370874005 | 22:50,649,160 | G/A | — | uncertain significance |
| rs200138432 | 22:50,649,223 | G/C | — | uncertain significance |
| rs56372991 | 22:50,649,273 | C/T | synonymous variant | — |
| rs200939056 | 22:50,649,274 | G/A | — | uncertain significance |
| rs143617749 | 22:50,652,678 | C/T | downstream gene variant | — |
| rs921069886 | 22:50,654,239 | A/G | — | uncertain significance |
| rs547589952 | 22:50,655,170 | C/T | — | uncertain significance |
| rs554842345 | 22:50,655,212 | G/A | — | uncertain significance |
| rs778705234 | 22:50,655,224 | A/G | — | uncertain significance |
| rs537037852 | 22:50,655,248 | C/T | — | uncertain significance |
| rs371055203 | 22:50,655,253 | G/C | — | uncertain significance |
| rs768111760 | 22:50,655,299 | C/T | — | uncertain significance |
| rs760826494 | 22:50,655,406 | G/A | — | uncertain significance |
| rs34658004 | 22:50,655,416 | G/C | — | uncertain significance |
| rs570141203 | 22:50,655,429 | G/A | — | uncertain significance |
| rs369750052 | 22:50,655,444 | G/A | — | uncertain significance |
| rs776868831 | 22:50,655,459 | C/G | — | uncertain significance |
| rs548507703 | 22:50,655,465 | C/T | — | uncertain significance |
| rs376531221 | 22:50,655,466 | G/A | — | uncertain significance |
| rs200868550 | 22:50,655,468 | G/A | — | uncertain significance |
| rs570812157 | 22:50,655,477 | G/A | — | uncertain significance |
| rs758808541 | 22:50,655,480 | A/G | — | uncertain significance |
| rs751973996 | 22:50,655,525 | A/T | — | uncertain significance |
| rs777956711 | 22:50,655,536 | C/T | — | likely benign |
| rs772001158 | 22:50,655,540 | C/T | — | uncertain significance |
| rs776118713 | 22:50,655,546 | G/C | — | uncertain significance |
| rs2519116134 | 22:50,655,634 | G/A | — | uncertain significance |
| rs780780228 | 22:50,655,641 | G/A | — | uncertain significance |
| rs374856550 | 22:50,655,672 | C/G | — | uncertain significance |
| rs372550959 | 22:50,655,707 | C/T | — | uncertain significance |
| rs760622131 | 22:50,655,742 | T/C | — | uncertain significance |
| rs778019495 | 22:50,655,778 | T/C | — | uncertain significance |
| rs387907019 | 22:50,656,167 | A/C | stop lost | pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.