HLA-DQA1
major histocompatibility complex, class II, DQ alpha 1
Summary
HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B Lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa. It is encoded by 5 exons; exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. [provided by RefSeq, Jul 2008]
Known Variants164 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9272263 | 6:32,603,295 | G/A | upstream gene variant | — |
| rs62404084 | 6:32,603,321 | C/T | upstream gene variant | — |
| rs114005998 | 6:32,603,536 | T/C | regulatory region variant | — |
| rs1391373 | 6:32,603,660 | T/G | — | — |
| rs9272290 | 6:32,603,713 | T/A | — | — |
| rs9272293 | 6:32,603,742 | A/T | — | — |
| rs191331798 | 6:32,603,758 | T/C | regulatory region variant | — |
| rs1391371 | 6:32,603,798 | A/C | — | — |
| rs3129774 | 6:32,603,825 | C/T | upstream gene variant | — |
| rs9272300 | 6:32,603,837 | C/T | upstream gene variant | — |
| rs9272302 | 6:32,603,854 | C/T | upstream gene variant | — |
| rs9272310 | 6:32,603,939 | G/T | upstream gene variant | — |
| rs9272346 | 6:32,604,372 | G/A | intergenic variant | — |
| rs9272353 | 6:32,604,456 | G/A | — | — |
| rs117353881 | 6:32,604,457 | G/A | upstream gene variant | — |
| rs118178404 | 6:32,604,530 | A/T | upstream gene variant | — |
| rs9469201 | 6:32,604,541 | T/G | upstream gene variant | — |
| rs6933289 | 6:32,604,551 | C/A | — | — |
| rs9272363 | 6:32,604,585 | A/G | — | — |
| rs9272364 | 6:32,604,599 | G/A | upstream gene variant | — |
| rs9272371 | 6:32,604,654 | T/G | — | — |
| rs6938008 | 6:32,604,743 | T/C | regulatory region variant | — |
| rs9272400 | 6:32,604,898 | G/A | regulatory region variant | — |
| rs3187964 | 6:32,605,207 | C/G | regulatory region variant | — |
| rs1047989 | 6:32,605,257 | C/T | synonymous variant | — |
| rs1047992 | 6:32,605,266 | G/T | missense variant | — |
| rs11545686 | 6:32,605,288 | T/C | missense variant | Likely benign |
| rs12722042 | 6:32,605,309 | A/G | missense variant | — |
| rs9272445 | 6:32,605,420 | C/T | — | — |
| rs9272451 | 6:32,605,501 | C/G | regulatory region variant | — |
| rs9272456 | 6:32,605,555 | T/A | intron variant | — |
| rs9272460 | 6:32,605,583 | A/G | intron variant | — |
| rs2187668 | 6:32,605,884 | T/C | intron variant | — |
| rs9272489 | 6:32,606,030 | A/T | intron variant | — |
| rs9272502 | 6:32,606,244 | C/T | regulatory region variant | — |
| rs9272515 | 6:32,606,406 | G/T | — | — |
| rs527732063 | 6:32,606,476 | G/A | — | — |
| rs9272521 | 6:32,606,479 | G/A | — | — |
| rs568924277 | 6:32,606,505 | G/C | — | — |
| rs539726870 | 6:32,606,531 | A/G | — | — |
| rs373801706 | 6:32,606,560 | A/G | — | — |
| rs28680981 | 6:32,606,579 | G/T | — | — |
| rs199705602 | 6:32,606,584 | A/G | — | — |
| rs41268938 | 6:32,606,616 | A/C | — | — |
| rs9272532 | 6:32,606,643 | C/A | regulatory region variant | — |
| rs28375776 | 6:32,606,658 | C/G | regulatory region variant | — |
| rs28636516 | 6:32,606,701 | A/C | — | — |
| rs75983419 | 6:32,606,721 | G/C | — | likely benign |
| rs1246001026 | 6:32,606,726 | A/G | — | likely benign |
| rs9272535 | 6:32,606,756 | G/A | regulatory region variant | — |
| rs147737004 | 6:32,606,762 | T/G | — | benign |
| rs9272544 | 6:32,606,878 | G/A | regulatory region variant | — |
| rs9272545 | 6:32,606,885 | G/T | — | — |
| rs28383364 | 6:32,606,912 | A/G | regulatory region variant | — |
| rs41268940 | 6:32,606,987 | T/G | intron variant | — |
| rs9272566 | 6:32,607,175 | G/A | intron variant | — |
| rs28383378 | 6:32,607,239 | C/A | intron variant | — |
| rs28383380 | 6:32,607,253 | C/A | intron variant | — |
| rs9272575 | 6:32,607,296 | C/A | intron variant | — |
| rs35248896 | 6:32,607,370 | C/T | intron variant | — |
| rs9272622 | 6:32,607,986 | G/A | — | — |
| rs9272626 | 6:32,608,041 | A/C | intron variant | — |
| rs117441922 | 6:32,608,249 | G/C | intron variant | — |
| rs117098085 | 6:32,608,257 | C/T | intron variant | — |
| rs9272649 | 6:32,608,550 | A/T | — | — |
| rs4452681 | 6:32,608,770 | C/G | — | — |
| rs28383432 | 6:32,608,880 | G/A | intron variant | — |
| rs9272676 | 6:32,608,903 | T/A | — | — |
| rs1129740 | 6:32,609,105 | G/A | missense variant | benign |
| rs1071630 | 6:32,609,126 | T/C | missense variant | benign |
| rs12722051 | 6:32,609,147 | A/C | missense variant | — |
| rs79034180 | 6:32,609,339 | T/C | splice region variant | — |
| rs28383454 | 6:32,609,370 | G/T | intron variant | — |
| rs17843560 | 6:32,609,388 | G/T | intron variant | — |
| rs201515192 | 6:32,609,480 | A/G | — | — |
| rs9272729 | 6:32,609,594 | G/T | — | — |
| rs28383461 | 6:32,609,607 | G/A | intron variant | — |
| rs1048124 | 6:32,609,783 | C/T | — | likely benign |
| rs7990 | 6:32,609,965 | C/A | missense variant | — |
| rs62404092 | 6:32,610,151 | T/C | — | — |
| rs9272775 | 6:32,610,257 | T/C | intron variant | — |
| rs9272776 | 6:32,610,270 | T/A | — | — |
| rs9272777 | 6:32,610,281 | C/T | — | — |
| rs9272780 | 6:32,610,349 | C/A | intron variant | — |
| rs1048372 | 6:32,610,436 | T/G | missense variant | — |
| rs35087390 | 6:32,610,437 | G/T | missense variant | — |
| rs1048381 | 6:32,610,445 | G/A | synonymous variant | — |
| rs9272851 | 6:32,610,704 | T/C | intron variant | — |
| rs28538060 | 6:32,611,099 | G/T | 3 prime UTR variant | — |
| rs9272975 | 6:32,611,321 | T/G | — | — |
| rs7757696 | 6:32,611,450 | G/T | downstream gene variant | — |
| rs9273012 | 6:32,611,641 | A/G | downstream gene variant | — |
| rs4526236 | 6:32,611,694 | G/A | downstream gene variant | — |
| rs36214159 | 6:32,611,759 | T/G | — | — |
| rs9273039 | 6:32,611,951 | C/T | downstream gene variant | — |
| rs9273047 | 6:32,612,006 | C/T | downstream gene variant | — |
| rs9461787 | 6:32,612,084 | A/G | downstream gene variant | — |
| rs9273076 | 6:32,612,301 | T/C | downstream gene variant | — |
| rs9273077 | 6:32,612,307 | A/G | downstream gene variant | — |
| rs6927022 | 6:32,612,397 | A/T | — | — |
Showing 100 of 164 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.