Table 1.
SNP ID relative to coding sequence* |
Gene region | Variation relative to reference sequence | Position on NW_001494406.2 (Btau4.2) | Position on NW_003104605.1 (UMD_3.1) | Allele frequency |
SNP accession number (dbSNP, NCBI ss#) |
---|---|---|---|---|---|---|
c.-569_570del AC | Promoter | Indel TG | 1918795 | 389858 | Not analyzed | ss469271165 |
c.-224_225del GG | Promoter | Indel (C)5-7 | 1918451 | 389615 | Not analyzed | ss469271166 |
c.-196G>A | Promoter | C>T | 1918422 | 3894586 | Not analyzed | ss469271167 |
c.-167G>C | Promoter | C>G | 1918393 | 3894557 | Not analyzed | ss469271168 |
c.-151G>C | Promoter | C>G | 1918377 | 3894541 | Not analyzed | ss469271169 |
c.-122G>A | Promoter | C>T | 1918348 | 3894512 | 0.67 (G)/0.33 (A) | ss469271170 |
c.481-233A>G | Intron 5 | T>C | 1876389 | 3852106 | 0.73 (A)/0.27 (G) | ss469271171 |
c.516C>G | Exon 6 | G>C | 1876121 | 3852284 | 0.57 (C)/0.43 (G) | ss469271172 |
c.580+114C>G | Intron 6 | G>C | 1875943 | 3852552 | 0.33 (C)/0.67 (G) | ss469271173 |
c.584A>G | Exon 7 | T>C | 1875838 | 3852001 | 0.07 (G)/0.94 (A) | ss469271174 |
c.845-58T>G | Intron 9 | A>C | 1871919 | 3848082 | 0.75 (T)/0.21 (G)5 | ss469271175 |
c.1267-100C>T | Intron 13 | G>A | 1864210 | 3840373 | 0.24 (T)/0.76 (C) | ss469271176 |
c.1525-131C>T | Intron 16 | G>A | 1859370 | 3835533 | Not analyzed | ss469271177 |
c.1938T>G | Exon 20 | A>C | Not annotated | 3831586 | 0.75 (T)/0.25 (G) | ss469271178 |
c.1959+56G>A | Intron 20 | C>T | Not annotated | 3831509 | 0.24 (A)/0.76 (G) | ss469271179 |
c.2099+1023del A | 3'UTR | Indel A | 1853870 | 3829944 | Not analyzed | ss469271180 |
c.2099+1030 C>A | 3'UTR | C>A | 1853863 | 3829937 | Not analyzed | ss469271181 |
c.2099+1032 A>C | 3'UTR | A>C | 1853861 | 3829935 | Not analyzed | ss469271182 |
c.2099+1034 C>A | 3'UTR | C>A | 1853859 | 3829933 | Not analyzed | ss469271183 |
*SNP nomenclature according to the translation start codon ATG, reference sequence NM_001076085.1. SNPs marked in bold were included in the association analysis. Genomic positions of the SNPs were inferred from the current versions of the refererence and alternative bovine genome assemblies Btau4.2 and UMD_3.1 available at NCBI (http://www.ncbi.nlm.nih.gov/genome/guide/cow/index.html).