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Table 2 Polymorphisms at the KIAA1646/CERK locus in periodic catatonia

From: Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia

Nucleotide position* DNA level Nucleotide change Codon SNP-database Genotypes of the individuals from each family
      933 1045 727 857 Ctrl Allele frequency
45437424 Exon 2 G>A C50 rs 12166204 GG GA GG GG GG G: 0.9; A: 0.1
45418024 Intron 7 C>T - rs 16995595 GT CC CC CC CC C: 0.9; T: 0.1
45415928 Intron 7 C>G - - CG GG CG CC CG C: 0.5; G: 0.5
45415691 Intron 8 C>G - rs 5767329 CC CC CG CG CC C: 0.8; G: 0.2
45411750 Intron 8 G>A - rs 9616098 GG GG GG GG GA G: 0.9; A: 0.1
45411662 Exon 9 A>C V338G - AA AA AA AA AC A: 0.9; C: 0.1
45409793 Intron 10 G>A - - GG GG GA GA GG G: 0.8; A: 0.2
45408189 Exon 11 G>A D377 - GA GG GG GG GA G: 0.8; A: 0.2
45406443 Exon 12 G>A D502 - GG GG GA GA GG G: 0.8; A: 0.2
45403531 3'- UTR T>A - - TA TT TA TA AA T: 0.5; A: 0.5
45403529 3'-UTR T>C - rs 2542014 TC TT TC TC CC T: 0.5; C: 0.5
45403096 3'-UTR G>T - rs 8143065 GG GG GT GT GG G: 0.8; T: 0.2
45402864 3'-UTR C>T - rs 801719 CC CC CT CT CT C: 0.7; T: 0.3
45402678 3'-UTR C>A - rs 801720 CC CC CA CA AA C: 0.6; A: 0.4
45402542 3'-UTR G>A - rs 3747258 GG GG GA GA GG G: 0.8; A: 0.2
45402502 3'-UTR C>T - - CC CC CT CT CC C: 0.8; T: 0.2
45402374 3'-UTR A>G - rs 2748348 AA AA AG AG AA A: 0.8; G: 0.2
  1. * nt position according the UCSC Genome Browser May 2004 assembly [14; NM\_022766].