BTN3A2
butyrophilin subfamily 3 member A2
Summary
This gene encodes a member of the immunoglobulin superfamily, which resides in the juxta-telomeric region of the major histocompatability class 1 locus and is clustered with the other family members on chromosome 6. The encoded protein may be involved in the adaptive immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs539682398 | 6:26,368,426 | T/A | — | uncertain significance |
| rs753847600 | 6:26,368,849 | G/A | — | uncertain significance |
| rs758725669 | 6:26,368,873 | C/G | — | uncertain significance |
| rs755728551 | 6:26,368,877 | C/A | — | likely benign |
| rs28717012 | 6:26,368,938 | C/T | — | benign |
| rs145878031 | 6:26,368,939 | G/A | — | uncertain significance |
| rs776878011 | 6:26,369,000 | C/T | — | uncertain significance |
| rs1759805229 | 6:26,369,057 | C/T | — | uncertain significance |
| rs2532934507 | 6:26,369,069 | G/A | — | uncertain significance |
| rs62394813 | 6:26,369,604 | C/G | upstream gene variant | — |
| rs34878490 | 6:26,370,572 | C/T | synonymous variant | — |
| rs9379860 | 6:26,370,605 | T/A | missense variant | — |
| rs201001724 | 6:26,370,610 | A/C | — | uncertain significance |
| rs9393711 | 6:26,370,659 | C/T | synonymous variant | — |
| rs147417438 | 6:26,370,661 | C/A | — | uncertain significance |
| rs9379862 | 6:26,370,707 | T/C | synonymous variant | — |
| rs759287621 | 6:26,370,778 | T/A | — | uncertain significance |
| rs373600244 | 6:26,370,798 | G/A | — | likely benign |
| rs58367598 | 6:26,370,833 | T/G | — | benign |
| rs12174623 | 6:26,373,086 | C/A | — | — |
| rs780468088 | 6:26,373,142 | G/A | — | uncertain significance |
| rs1760263968 | 6:26,373,154 | A/G | — | uncertain significance |
| rs745427991 | 6:26,373,199 | G/A | — | uncertain significance |
| rs749190080 | 6:26,373,206 | C/T | — | uncertain significance |
| rs542217150 | 6:26,374,570 | C/G | — | uncertain significance |
| rs115820857 | 6:26,374,571 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.