BCO2
beta-carotene oxygenase 2
Summary
This gene encodes an enzyme which oxidizes carotenoids such as beta-carotene during the biosynthesis of vitamin A. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs780599024 | 11:112,046,334 | C/T | — | uncertain significance |
| rs2498984746 | 11:112,046,338 | T/C | — | uncertain significance |
| rs145373157 | 11:112,046,371 | C/T | — | likely benign |
| rs775490373 | 11:112,046,389 | C/T | — | uncertain significance |
| rs767133207 | 11:112,050,079 | C/T | — | uncertain significance |
| rs1001069032 | 11:112,050,195 | G/C | — | uncertain significance |
| rs2115763 | 11:112,051,169 | A/T | upstream gene variant | — |
| rs75649625 | 11:112,052,194 | G/C | — | — |
| rs12283162 | 11:112,057,306 | A/G | downstream gene variant | — |
| rs182603642 | 11:112,061,266 | C/G | intron variant | — |
| rs762083376 | 11:112,064,201 | A/G | — | uncertain significance |
| rs139425271 | 11:112,064,305 | C/G | — | uncertain significance |
| rs2496469427 | 11:112,064,321 | A/G | — | uncertain significance |
| rs7105056 | 11:112,064,431 | T/C | downstream gene variant | — |
| rs200053646 | 11:112,064,634 | C/T | — | uncertain significance |
| rs1234579244 | 11:112,065,410 | C/G | — | uncertain significance |
| rs765749418 | 11:112,065,454 | A/C | — | uncertain significance |
| rs780508988 | 11:112,065,469 | G/A | — | uncertain significance |
| rs149790013 | 11:112,065,474 | A/C | — | likely benign |
| rs7123686 | 11:112,065,483 | A/T | splice region variant | — |
| rs202172820 | 11:112,070,443 | G/A | — | uncertain significance |
| rs202014484 | 11:112,070,515 | C/G | — | uncertain significance |
| rs183792404 | 11:112,071,396 | T/C | — | uncertain significance |
| rs201362479 | 11:112,071,413 | C/T | — | uncertain significance |
| rs148237186 | 11:112,071,441 | G/A | — | uncertain significance |
| rs141269805 | 11:112,071,462 | C/T | — | uncertain significance |
| rs181898566 | 11:112,072,779 | G/A | — | uncertain significance |
| rs147138798 | 11:112,072,788 | C/T | — | uncertain significance |
| rs543089317 | 11:112,072,872 | C/G | — | uncertain significance |
| rs78952668 | 11:112,084,480 | A/T | — | uncertain significance |
| rs553884859 | 11:112,084,519 | G/A | — | uncertain significance |
| rs146858215 | 11:112,084,583 | C/T | — | uncertain significance |
| rs2250417 | 11:112,085,316 | T/C | upstream gene variant | — |
| rs763831109 | 11:112,085,490 | G/T | — | uncertain significance |
| rs1355110756 | 11:112,085,539 | A/G | — | uncertain significance |
| rs144345630 | 11:112,085,566 | C/T | — | likely benign |
| rs774937117 | 11:112,085,611 | C/T | — | uncertain significance |
| rs776951309 | 11:112,086,959 | G/A | — | uncertain significance |
| rs1566804505 | 11:112,087,005 | T/G | — | uncertain significance |
| rs1592871495 | 11:112,087,021 | G/C | — | uncertain significance |
| rs139756116 | 11:112,087,786 | C/A | upstream gene variant | — |
| rs766507953 | 11:112,088,577 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.