HLA-DOA
major histocompatibility complex, class II, DO alpha
Summary
HLA-DOA belongs to the HLA class II alpha chain paralogues. HLA-DOA forms a heterodimer with HLA-DOB. The heterodimer, HLA-DO, is found in lysosomes in B cells and regulates HLA-DM-mediated peptide loading on MHC class II molecules. In comparison with classical HLA class II molecules, this gene exhibits very little sequence variation, especially at the protein level. [provided by RefSeq, Jul 2008]
Known Variants12 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3128935 | 6:32,972,404 | T/C | 3 prime UTR variant | — |
| rs9276975 | 6:32,973,599 | C/T | 3 prime UTR variant | — |
| rs9276977 | 6:32,973,841 | G/C | — | — |
| rs2581 | 6:32,974,401 | G/C | — | — |
| rs378352 | 6:32,974,934 | G/A | synonymous variant | — |
| rs399604 | 6:32,975,014 | T/C | intron variant | — |
| rs365066 | 6:32,975,257 | C/T | synonymous variant | — |
| rs10947368 | 6:32,975,341 | C/T | — | benign |
| rs78635760 | 6:32,976,013 | G/A | — | benign |
| rs2284191 | 6:32,976,654 | G/A | intron variant | — |
| rs9276982 | 6:32,978,215 | G/A | upstream gene variant | — |
| rs79327197 | 6:32,978,412 | A/G | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.