TCN2
Gene name: 6948OMIM ID: 613441
Chromosome location: 22q12.2
Polymorphisms
| Disease/Phenotype | Transcobalamin II deficiency | ||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Reference transcript | NM_001184726.1 | ||||||||||||||||||||
| DNA Change | c.776C>G | ||||||||||||||||||||
| A.A. Change | p.Pro259Arg | ||||||||||||||||||||
| Exon/Intron | exon 6 | ||||||||||||||||||||
| Variation Type | substitution | ||||||||||||||||||||
| Reference SNP | rs1801198 | ||||||||||||||||||||
| Cases | |||||||||||||||||||||
| Controls | 81 apparently healthy participants | ||||||||||||||||||||
| Frequency |
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| Reference | Gueant JL, Chabi NW, Gueant-Rodriguez RM, Mutchinick OM, Debard R, Payet C, Lu X, Villaume C, Bronowicki JP, Quadros EV, Sanni A, Amouzou E, Xia B, Chen M, Anello G, Bosco P, Romano C, Arrieta HR, S?nchez BE, Romano A, Herbeth B, Anwar W, Namour F.Environmental influence on the worldwide prevalence of a 776C->G variant in the transcobalamin gene (TCN2). J Med Genet. 2007 Jun;44(6):363-7. |