Table 2

Characteristics of the candidate gene SNPs

GeneGene descriptionSNP IDAlleles A/B* (freq)ChromosomeSequence positionCodon changeaa changeTaqman assay ID
ERCC2 (XPDExcision repair cross-complementing rodent repair deficiency, complementation group 2 rs13181 A/C (0.36) 19 exon 23 (751) AAG/CAG Lys/Gln C_3145033_10 
ERCC5 (XPGERCC5 excision repair cross-complementing rodent repair deficiency, complementation group 5 rs17655 G/C (0.28) 13 exon 4 (1104) GAT/CAT Asp/His C_1891743_10 
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1 rs25487 G/A (0.38) 19 exon 10 (399) CGG/CAG Arg/Gln C_622564_10 
XPC XPC xeroderma pigmentosum, complementation group C rs2228000 C/T (0.29) exon 8 (499) GCG/GTG Ala/Val C_16018061_10 
rs2228001 A/C (0.40) exon 16 (939) AAG/CAG Lys/Gln C_234284_1 
GeneGene descriptionSNP IDAlleles A/B* (freq)ChromosomeSequence positionCodon changeaa changeTaqman assay ID
ERCC2 (XPDExcision repair cross-complementing rodent repair deficiency, complementation group 2 rs13181 A/C (0.36) 19 exon 23 (751) AAG/CAG Lys/Gln C_3145033_10 
ERCC5 (XPGERCC5 excision repair cross-complementing rodent repair deficiency, complementation group 5 rs17655 G/C (0.28) 13 exon 4 (1104) GAT/CAT Asp/His C_1891743_10 
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1 rs25487 G/A (0.38) 19 exon 10 (399) CGG/CAG Arg/Gln C_622564_10 
XPC XPC xeroderma pigmentosum, complementation group C rs2228000 C/T (0.29) exon 8 (499) GCG/GTG Ala/Val C_16018061_10 
rs2228001 A/C (0.40) exon 16 (939) AAG/CAG Lys/Gln C_234284_1 
*

Nucleotide variants in codifying sequence: A (major allele)/B (minor allele). Minor allele frequency in healthy donor group is indicated in brackets.

The amino acid change position on protein sequence is indicated in brackets.

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