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Table 1 Mutation analysis of 12 families linked to Xq25 revealed 3 SNPs

From: Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26

Location of SNP

SNP

Family

% of control sample with SNP (n = 100)

SNP Heterozygosity (SNP Database No.)

Exon 1 – 5'UTR 29 bp 5' of AUG

CTTGTCCC CTTATCCC

F93-04

13%

ND

Intron 13 48 bp 5' of exon14

CAACAGTA CAATAGTA

K8895

15%

0.359 (rs2274093)

Intron 18 74 bp 3' of exon18

CAGATTTAC CAGATTTTC

24981

0%

0.093 (rs3736692)