Table 1 Selected splice-site SNPs for functional studies
From: Identification of functional single nucleotide polymorphisms in the branchpoint site
Chromosome | Position | Position | Gene name | SNP ID | Alleles | SNP ± 10 nucleotides sequence | Allele frequency |
|---|---|---|---|---|---|---|---|
3 | 14187698 | 14187699 | XPC | rs2733532 | A/G | TCTGATTACT*A*ACCCTCGCCT | A = 0.363 G = 0.637 |
9 | 130689507 | 130689508 | PIP5KL1 | rs13296170 | A/C | GGCCTCCCTC*A*CTCCCTGTCC | A = 1 C = 0 |
10 | 96535124 | 96535125 | CYP2C19 | rs12769205 | A/G | TCTCCCTCCT*A*GTTTCGTTTC | A = 0.670 G = 0.330 |
16 | 15835555 | 15835556 | MYH11 | rs75434223 | A/C | CGTGGGGCTC*A*CCCGCCTCCT | A = 1 C = 0 |
19 | 45854507 | 45854508 | KLC3 | rs67785924 | −/ACCTC | CTTGCCCCTC*A*CCTCCCCTCC | − = 0.079 ACCTC = 0.921 |