Table 1.
Position and allele frequencies of AKT1 SNPs used in this study
SNP number | SNP name | Position (bp)* | AKT1 gene location # | Distance (bp) | Major allele | Minor allele | Minor allele frequency in ISHDSF |
---|---|---|---|---|---|---|---|
1 | rs1130214 | 104,330,779 | 5’ UTR | 2015 | G | T | 0.31 |
2 | rs2494746 | 104,328,764 | Intron 2 | 11312 | G | C | 0.08 |
3 | rs3730358 | 104,317,452 | Intron 3 | 6513 | C | T | 0.17 |
4+ | rs2498799 | 104,310,939 | Exon 9 | 702 | G | A | 0.25 |
5 | rs2494732 | 104,310,237 | Intron 11 | 46 | A | G | 0.45 |
6 | rs3803304 | 104,310,191 | Intron 11 | 4704 | G | C | 0.28 |
7 | rs2498802 | 104,305,487 | 3’UTR | 1347 | C | G | 0.34 |
8 | rs2498804 | 104,304,140 | 3’UTR | G | T | 0.34 |
University of California at Santa Cruz (UCSC) Human Genome Browser Gateway assembly May 2004
Based on AKT1 gene transcript variant 1 (NM_005163) which has 14 exons
rs2498799 is a synonymous coding variant