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Table 2 Sequence changes in BER genes in familial colorectal cancer cases and controls

From: Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1genes in familial colorectal cancer predisposition

Gene Exon Nucleotide change Amino acid change No. of heterozygote cases (n = 94) No. of heterozygote controls (n = 188) DbSNP database entry
NEIL1 IVS1 T434+2C   1   rs5745908
NEIL2 IVS1 T138+25C   >10   rs804269
  IVS1 C138+35T   >10   rs804268
  2 G308A R103Q 1   rs8191613
  2 C367A P123T 1 0  
  3 A564G   >10   rs8191642
  IVS3 C689-13T   >10   rs8191663
  4 G770T R257L 1   rs8191664
  3' UTR C999+21T   >10   rs1534862
  3'UTR 999+34 delC   >10   rs8191667
MPG 5' UTR 1–27 insT   1   rs3176380
  2 C147G   3   rs2259275
  3 C342G   1   
TDG IVS2 A166+12G   4   rs3829300
  IVS2 G167-9A   >10   rs3751209
  IVS2 G167-19C   1   
  3 A196G R66G 1 0  
  10 G1099 A V367M >10   rs2888805
UNG 2 C262T R88C 1 0  
  2 G246C   0 1  
  IVS4 533–25   >10   rs3219235
  IVS6 801+20 delTTTT   >10   
SMUG1 1 G44T G15V 1   rs2233920