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Table 2 Haplotype phasing by SNP genotyping

From: Novel APC promoter and exon 1B deletion and allelic silencing in three mutation-negative classic familial adenomatous polyposis families

SNP Reference Distance (bp) a 0124 0124 phased b 0130 0130 phased b 0163 0163 phased b
SNPs 5′ to deletion         
rs76768628 A 2408 A/A A A/A A A/A A
rs60905866 G 2250 G/G G G/G G G/G G
rs10463643 C 2150 C/T T T/T T C/T T
rs10051624 G 1781 G/C G G/G G G/C G
rs2900066 A 473 A/T T T/T T A/T T
rs6594643 C 275 C/A C C/C C C/A C
rs6594644 T 229 T/G T T/T T T/G T
SNPs 3′ to deletion         
rs4705559 A 4276 A/G A A/A A A/G A
rs7704618 T 4619 T/G T T/T T T/G T
rs1661035 G 5982 G/C C C/C C G/C C
rs76028897 A 6151 A/A A A/A A A/A A
  1. aDistance from the adjacent breakpoint coordinate of deletion chr5:112,034,826-112,045,845.
  2. bSNP typing of phased PCR amplicons.
  3. Positions which differ from the reference base are denoted in bold.