The BGMUT (Blood Group antigen gene MUTation) Database documents allelic variations in the genes encoding for human blood group systems.[1][2] It was set up in 1999 through an initiative of the Human Genome Variation Society (HGVS). Since 2006, it has been a part of the dbRBC (database Red Blood Cells) resource of NCBI at the NIH. In addition to being a repository of the genetic variations of the blood group antigen-encoding genes, the database also provides information on the blood group systems, the genes that encode them, the serological phenotypes associated with the alleles of the genes, etc. Information on genetic variations in some non-human orthologous genes is also provided.
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| Content | |
|---|---|
| Description | database of variations in the genes that encode antigens of blood group systems |
| Contact | |
| Research center | National Center for Biotechnology Information |
| Authors | Olga Blumenfeld and Santosh Patnaik |
| Primary citation | PMID 14695527 |
| Release date | 1999 |
| Access | |
| Website | ncbi.nlm.nih.gov/gv/rbc |
| Download URL | FTP |
References
edit- ^ Blumenfeld OO, Patnaik SK (January 2004). "Allelic genes of blood group antigens: a source of human mutations and cSNPs documented in the Blood Group Antigen Gene Mutation Database". Hum. Mutat. 23 (1): 8–16. doi:10.1002/humu.10296. PMID 14695527. S2CID 24626149.
- ^ Claustres M, Horaitis O, Vanevski M, Cotton RG (May 2002). "Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases". Genome Res. 12 (5): 680–8. doi:10.1101/gr.217702. PMID 11997335.
External links
edit- Blumenfeld OO, Patnaik SK. "Blood Group Antigen Gene Mutation Database (BGMUT)". dbRBC. NCBI at the NIH. Retrieved 2011-07-17.