Table 2.
Characteristics of four informative polymorphisms identified in CASQ1 gene
| SNP rs | SNP position | Alleles | Ancestral allele | Gene(s) | Role | Amino acid change | Amino acid position | SNP relativeto chromosome |
|---|---|---|---|---|---|---|---|---|
| rs74123279 | chr1:151389828 | G/A | G | CASQ1 | Promoter | − | − | + |
| rs3838216 | chr1:160161633: 160161634 | –/GGCATTCAGATAGGCCT | Not available | CASQ1 | Intron 1 | − | − | + |
| rs3747623 | chr1:160163509 | C/T | C | CASQ1 | Intron 2 (boundary) | − | − | + |
| rs2275703 | chr1:160165095 | A/C | A | CASQ1 | Intron 4 | − | − | + |
Notes: No change in amino acid sequence or its position is indicated with “−”. Forward or plus (+) strand of DNA 5′----3′ is indicated with “+”.
Abbreviations: CASQ1, calsequestrin; SNP, single-nucleotide polymorphism.