Table 2. Polymorphisms identified in the sequences of FKBP6 and TRIM56.
Gene symbol | Discovery SNPs by GWAS | Polymorphisms (HGVS)* | Broad Institute database | Location in zthe gene | Substitution type |
FKBP6 | 13:11044175 | g.11038994A>G | new | Exon 3 | synonymous |
g.11040315G>A | new | Exon 4 | synonymous | ||
g.11040379C>A | BIEC2-219719 | Exon 4 | His>Asp; p.166H>N | ||
g.11047232T>C | BIEC2-219729 | Exon 5 | Cys>Arg; p.221C>R | ||
TRIM56 | 13:9034435 | g.9048610T>C | new | Exon 2 | synonymous |
13:9034502 | g.9048622G>A | new | Exon 2 | synonymous |
Human Genome Variation Society nomenclature; http://www.hgvs.org/mutnomen/.