Table 3.

Genes and polymorphisms


Gene

Allele*

Characteristic*

Context sequence
Drug metabolic pathways    
    CDA  Lys27Gln   Missense change   CAGCTGCTGGTTTGCTCCCAGGAGGCCAAG [A/C] AGTCAGCCTACTGCCCCTACAGTCACT  
    SXR (1)   -1567T>C   UTR 5′   AATCCAGTATTTCACTTACTCTTTT [C/T] CTTTCCAATATCCTCATGACATTCA  
    SXR (2)   -35C>T   UTR 5′   AATAAGCTAATACTCCTGTCCTGAA [A/C] AAGGCAGCGGCTCCTTGGTAAAGCT  
    GSTT1  Ex5-182C>T   UTR 3′   TGCTCTGGGACTTGGGCAAGTCTTA [G/A] GCAAGCCATTCCTGCTTTCTGGGCC  
    SULT1C2  Asp5Glu   Missense change   TTCTTACACTAATGGCCTTACACGA [C/G] ATGGAGGATTTTACATTTGATGGAA  
Multidrug resistance    
    MDR1 (1)   Ex29-193C>T   UTR3′   AAAATTTATAATGCAGTTTAAACTA [C/T] GATTTCTCTCCACTTGATGATGTCT  
    MDR1 (2)   Ilet 144Met   Missense change   TGTTGGCCTCCTTTGCTGCCCTCAC [A/G] ATCTCTTCCTGTGACACCACCCGGC  
Angiogenesis    
    VEGF (1)   Ex7-913A>G   UTR 3′   CACCTGCTTCTGAGTTGCCCAGGAG [A/G] CCACTGGCAGATGTCCCGGCGAAGA  
    VEGF (2)   -634G>C   UTR 5′   CGCGCGGGCGTGCGAGCAGCGAAAG [C/G] GACAGGGGCAAAGTGAGTGACCTGC  
DNA repair    
    XPD  Lys751Gln   Nonsense change   GCAGCTAGAATCAGAGGAGACGCTG [C/A] AGAGGATAGAGCAGATTGCTCAGCA  
    XPA  -4A>G   UTR 5′   GGGAGCTAGGTCCTCGGAGTGGGCC [G/A] GAGATGGCGGCGGCCGACGGGGCTT  
    ERCC1  Lys259Thr   Missense change   AAGAAGAGGAAGAAGCCCAAAGGGA [A/C] AGAAACCTTCGAGCCAGAAGACAAG  
    ERCC5  His46His   Silent change   CACTTAAAGGAGTCCGGGATCGCCA [C/T] GGGAACTCAATAGAAAATCCTCATC  
    TOP2A
 
Ex39-531 G>A
 
Intron/UTR 3′
 
TAGACACAGCCAAAGTGTTTTTCTT [C/T] GGCCTCTGATGATTTGAGAAGATGA
 

Gene

Allele*

Characteristic*

Context sequence
Drug metabolic pathways    
    CDA  Lys27Gln   Missense change   CAGCTGCTGGTTTGCTCCCAGGAGGCCAAG [A/C] AGTCAGCCTACTGCCCCTACAGTCACT  
    SXR (1)   -1567T>C   UTR 5′   AATCCAGTATTTCACTTACTCTTTT [C/T] CTTTCCAATATCCTCATGACATTCA  
    SXR (2)   -35C>T   UTR 5′   AATAAGCTAATACTCCTGTCCTGAA [A/C] AAGGCAGCGGCTCCTTGGTAAAGCT  
    GSTT1  Ex5-182C>T   UTR 3′   TGCTCTGGGACTTGGGCAAGTCTTA [G/A] GCAAGCCATTCCTGCTTTCTGGGCC  
    SULT1C2  Asp5Glu   Missense change   TTCTTACACTAATGGCCTTACACGA [C/G] ATGGAGGATTTTACATTTGATGGAA  
Multidrug resistance    
    MDR1 (1)   Ex29-193C>T   UTR3′   AAAATTTATAATGCAGTTTAAACTA [C/T] GATTTCTCTCCACTTGATGATGTCT  
    MDR1 (2)   Ilet 144Met   Missense change   TGTTGGCCTCCTTTGCTGCCCTCAC [A/G] ATCTCTTCCTGTGACACCACCCGGC  
Angiogenesis    
    VEGF (1)   Ex7-913A>G   UTR 3′   CACCTGCTTCTGAGTTGCCCAGGAG [A/G] CCACTGGCAGATGTCCCGGCGAAGA  
    VEGF (2)   -634G>C   UTR 5′   CGCGCGGGCGTGCGAGCAGCGAAAG [C/G] GACAGGGGCAAAGTGAGTGACCTGC  
DNA repair    
    XPD  Lys751Gln   Nonsense change   GCAGCTAGAATCAGAGGAGACGCTG [C/A] AGAGGATAGAGCAGATTGCTCAGCA  
    XPA  -4A>G   UTR 5′   GGGAGCTAGGTCCTCGGAGTGGGCC [G/A] GAGATGGCGGCGGCCGACGGGGCTT  
    ERCC1  Lys259Thr   Missense change   AAGAAGAGGAAGAAGCCCAAAGGGA [A/C] AGAAACCTTCGAGCCAGAAGACAAG  
    ERCC5  His46His   Silent change   CACTTAAAGGAGTCCGGGATCGCCA [C/T] GGGAACTCAATAGAAAATCCTCATC  
    TOP2A
 
Ex39-531 G>A
 
Intron/UTR 3′
 
TAGACACAGCCAAAGTGTTTTTCTT [C/T] GGCCTCTGATGATTTGAGAAGATGA
 
*

NCIB/Celera.

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