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. 2013 Aug 14;19(30):4935–4943. doi: 10.3748/wjg.v19.i30.4935

Table 6.

Sequence variants identified by resequencing of selected gene regions

Gene1 Position of SNP rs-number Part of gene/predicted consequence VAF/control2 VAF/patients2
CLDN2 c.-178-678C>G (g.29466911) rs62605981 Intron/5’ gene flanking region3 0.175 0.139
c.-178-104_-103delAT (g.29467485_29467486delAT) rs72466477 Intron/5’ gene flanking region3 0.175 0.083
1

The following reference sequences have been used for claudin (CLDN)2 NT_011651.16 (genomic) and NM_020384.2 (mRNA);

2

Variant allele frequencies (VAF) are defined with respect to the corresponding reference sequence;

3

The intronic region of CLDN2, according to the CLDN2 reference mRNA (NM_020384), correspond to the promoter region described by Sakaguchi et al[34]. SNP: Single nucleotide polymorphism.