HAO2
hydroxyacid oxidase 2
Summary
This gene is one of three related genes that have 2-hydroxyacid oxidase activity. The encoded protein localizes to the peroxisome has the highest activity toward the substrate 2-hydroxypalmitate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2224995 | 1:119,923,531 | A/C | intron variant | — |
| rs755698047 | 1:119,923,773 | G/A | — | uncertain significance |
| rs149393348 | 1:119,925,549 | G/A | — | uncertain significance |
| rs371185540 | 1:119,925,552 | C/T | — | uncertain significance |
| rs199705214 | 1:119,925,554 | C/T | — | uncertain significance |
| rs374052103 | 1:119,925,612 | T/G | — | uncertain significance |
| rs41313995 | 1:119,925,632 | G/T | missense variant | — |
| rs748115172 | 1:119,925,653 | C/T | — | uncertain significance |
| rs2526260148 | 1:119,927,426 | T/C | — | uncertain significance |
| rs2526260389 | 1:119,927,450 | G/A | — | uncertain significance |
| rs1402822718 | 1:119,927,452 | C/G | — | uncertain significance |
| rs2526261456 | 1:119,927,540 | T/A | — | uncertain significance |
| rs761660555 | 1:119,927,544 | G/C | — | uncertain significance |
| rs1487289538 | 1:119,927,596 | G/C | — | uncertain significance |
| rs750423937 | 1:119,927,629 | C/A | — | uncertain significance |
| rs140054426 | 1:119,929,273 | C/T | — | uncertain significance |
| rs1170311189 | 1:119,929,294 | G/A | — | uncertain significance |
| rs773141952 | 1:119,929,320 | A/G | — | uncertain significance |
| rs758059487 | 1:119,929,383 | G/A | — | uncertain significance |
| rs903528244 | 1:119,929,399 | A/T | — | uncertain significance |
| rs777625257 | 1:119,929,404 | A/G | — | uncertain significance |
| rs7528838 | 1:119,929,713 | A/T | intron variant | — |
| rs371764843 | 1:119,934,734 | T/C | — | uncertain significance |
| rs756932355 | 1:119,934,785 | A/T | — | uncertain significance |
| rs375715356 | 1:119,934,803 | G/A | — | uncertain significance |
| rs1306473983 | 1:119,934,848 | G/T | — | uncertain significance |
| rs1468173366 | 1:119,934,863 | G/A | — | uncertain significance |
| rs200829935 | 1:119,935,280 | A/G | — | uncertain significance |
| rs143670501 | 1:119,936,419 | G/T | — | uncertain significance |
| rs775135179 | 1:119,936,435 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.