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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.