Table 4.
db SNP ID | Physical position | VSX1 transcript ID | cDNA change | Protein change | Allele frequencya | Population frequencya |
---|---|---|---|---|---|---|
rs12480307 | chr20: 25078910 | NM_014588 | c.546A > G | p.A182A | A : 0.748 | A : 75 % |
G : 0.252 | G : 25 % | |||||
rs56157240 | chr20: 25078745 | NM_014588 | c.627 + 84 T > A | - | T: 0.252 | T: 25 % |
A: 0.748 | A: 75 % | |||||
rs6138482 | chr20: 25078806 | NM_014588 | c.627 + 23G > A | - | G: 0.735 | G: 74 % |
A: 0.265 | A: 26 % | |||||
(IVS3-24C) | chr20: 25078976 | NM_014588 | c.504-24C > T | - | C:0.999 | Not available |
T:0.001 |
aAllele and population frequencies were determined by 1000 Genomes Project Phase 1, HapMap, and ESP for human