Table 5.
Region | Polymorphism | Position within Gene | Type of Mutation | Individuals with 1 Minor Allele |
---|---|---|---|---|
5′UTR | UCD_Accession.21665078C>Gb | 179 bp 5′ of exon 1 | SNP: non-coding | 1 affected |
2 controls | ||||
5′UTR | UCD_Accession.21665177G>Tb | 80 bp 5′ of exon 1 | SNP: non-coding | 1 control |
5′UTR | UCD_Accession.21665247A>Cb | 10 bp of 5′ exon 1 | SNP: non-coding | 1 control |
Exon 1 | UCD_Accession.21665278C>Gb | Exon 1+21 | SNP: synonymous | 1 control |
Exon 1 | UCD_Accession.21662663C>Gb g.21665331C>Ga | Exon1+106 | SNP: synonymous | 1 control |
Exon 1 | UCD_Accession.21665441C>Tb g.21665398C>Ta | Exon 1+171 | SNP: synonymous | 1 affected |
Exon 1 | UCD_Accession.21665466A>Gb g.21665423T>A,Ga | Exon1+196 | SNP: synonymous | 2 controls |
Intron 3 | g.21677206A>Ga | Intron3+186 | SNP: non-coding | 1 affected |
Intron 3 | g.21677352A>Ga | Intron3+331 | SNP: non-coding | 1 affected |
Intron 3 | g.21678485C>Ta | Intron 3: 288 bp 5′ to exon 4 | SNP: non-coding | 1 affected |
3′UTR | g.21682198T>Ca | 3′UTR+378 | SNP: non-coding | 1 affected |
3′UTR | g.21682218C>Ta | 3′UTR+398 | SNP: non-coding | 1 affected |
Equine genome reference sequence considered wild type.
Reference sequence not available for this region: wild type based on major allele. Genomic location was determined as the position 5′ to Exon 1.