Table 1. Variants discovered by sequencing all HSPA8 exons and introns and 1 Kb upstream of transcript start site in 60 unrelated Chinese.
Variants | Position* | Gene pos. | Alleles | MAF (%) | Heterozygosity |
rs11218942 | −926 | promoter | G > T> C | 13.3 | 0.48 |
rs2236660 | −703 | promoter | T > C | 14.2 | 0.24 |
rs2236659 | −357 | promoter | T > C | 15.8 | 0.27 |
rs2236658 | −308 | promoter | A > G | 35.8 | 0.46 |
rs2276077 | 8 | 5′ UTR | G > A | 19.2 | 0.31 |
rs2276075 | 23 | 5′ UTR | C > T | 19.2 | 0.31 |
rs1136141 | 48 | 5′ UTR | C > T | 5.0 | 0.09 |
rs2276074 | 49 | 5′ UTR | C > G | 30.0 | 0.42 |
New1† | 301 | intron1 | C > G | 19.2 | 0.31 |
New2 † | 395 | intron1 | C > G | 17.5 | 0.29 |
rs11218941 | 416 | intron1 | T > C | 37.5 | 0.47 |
rs4935825 | 460 | intron1 | T > G | 1.7 | 0.03 |
rs11823704 | 647 | intron1 | G > T | 18.3 | 0.30 |
rs10892958 | 702 | intron1 | G > C | 40.4 | 0.48 |
New3† | 1255 | intron2 | T > C | 20.0 | 0.32 |
New4† | 1671 | intron3 | C > T | 12.5 | 0.22 |
New5† | 2692 | intron5 | Ins GACTC | 12.5 | 0.22 |
New6† | 2716 | intron5 | Ins CA | 5.8 | 0.11 |
rs1461496 | 3201 | intron6 | C > T | 44.5 | 0.49 |
rs1064585 | 3418 | exon7 | A > C | 5.8 | 0.11 |
rs4936770 | 3950 | intron8 | A > G | 45.0 | 0.49 |
rs3763897 | 4191 | intron8 | T > A | 11.7 | 0.21 |
rs4802 | 4203 | exon9 | C > T | 45.0 | 0.49 |
*Reference the transcription start code as +1.
Novel SNP not reported in public database before.