AKR1A1
aldo-keto reductase family 1 member A1
Summary
This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member, also known as aldehyde reductase, is involved in the reduction of biogenic and xenobiotic aldehydes and is present in virtually every tissue. Multiple alternatively spliced transcript variants of this gene exist, all encoding the same protein. [provided by RefSeq, Jan 2011]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs148563337 | 1:46,025,480 | C/T | intron variant | — |
| rs1239684840 | 1:46,027,509 | C/T | — | uncertain significance |
| rs779609207 | 1:46,032,306 | C/T | — | likely benign |
| rs61751012 | 1:46,032,307 | G/A | — | benign |
| rs771426342 | 1:46,032,323 | T/C | — | uncertain significance |
| rs149181973 | 1:46,032,542 | C/T | — | uncertain significance |
| rs1199390467 | 1:46,032,627 | G/C | — | uncertain significance |
| rs374896717 | 1:46,033,740 | A/T | — | uncertain significance |
| rs1374532218 | 1:46,033,785 | A/G | — | uncertain significance |
| rs369960731 | 1:46,034,218 | T/C | — | uncertain significance |
| rs141841941 | 1:46,034,301 | G/A | — | uncertain significance |
| rs2523054015 | 1:46,034,641 | C/G | — | uncertain significance |
| rs2523054070 | 1:46,034,649 | C/T | — | uncertain significance |
| rs779498256 | 1:46,034,835 | C/A | — | uncertain significance |
| rs1020523200 | 1:46,034,866 | A/T | — | uncertain significance |
| rs139469824 | 1:46,035,553 | C/G | — | benign |
| rs138720250 | 1:46,035,571 | G/A | — | likely benign |
| rs145543542 | 1:46,035,599 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.