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. 2014 Oct 2;1:14014. doi: 10.1038/hgv.2014.14

Table 2. SNP location, relative position on gene, amino-acid change and wild-type allele for all SNPs.

dbSNP SNP location Relative mRNA position on gene Amino-acid change Wild-type allele
rs1799929 Exon 2 c.481C>T p.Leu161Leu C
rs1799930 Exon 2 c.590G>A p.Arg197Gln G
rs1799931 Exon 2 c.857G>A p.Gly286Glu G

Abbreviation: SNP, single-nucleotide polymorphism.