Table 2

Polymorphisms in SAFB1 and SAFB2 in 31 patients (62 alleles).

Gene

Exon/Intron

Nucleotide position

Change

Frequency of minor allele

SNP annotation

SAFB1

exon 8

c.1155

CCC>CCT Asp<Asp

1/62

NA*

SAFB2

exon 4

c.459

GAC>GAT Asp>Asp

1/62

NA*

exon 9

c.1257

CGC>CGT Arg>Arg

3/62

rs806706

intron 9

c.1296+31

T>C

1/62

NA*

intron 13

c.1782+3

G>A

1/62

NA*

intron 14

c.1919+18

A>G

42/62

rs10413286

exon 16

c.2337

CAC>CAT His>His

4/62

NA*

intron 17

c.2394+24

C>T

10/62

rs2285963

3' UTR

c.2862+14

C>T

4/62

NA*

SNP annotations refer to NCBI SNPdb build 126.

*NA, Not Annotated.

Bergman et al. BMC Medical Genetics 2008 9:108   doi:10.1186/1471-2350-9-108