Cook, D;Brooks S, Bellone R, Bailey E«Missense Mutation in Exon 2 of SLC36A1 Responsible for Champagne Dilution in Horses».PLoS Genetics,4,9,2008. e1000195. DOI: 10.1371/journal.pgen.1000195. PMC: 2535566. PMID: 18802473.«Only one SNP was found, a missense mutation involving a single nucleotide change from a C to a G at base 76 of exon 2 (c.188C>G) (Figure 5). These SLC36A1 alleles were designated c.188[C/G], where c.188 designates the base pair location of the SNP from the first base of SLC36A1 cDNA, exon 1. Sequencing traces for the partial coding sequence of SLC36A1 exon 2 with part of the flanking intronic regions for one non-champagne horse and one champagne horse were deposited in GenBank with the following accession numbers respectively: EU432176 and EU432177. This single base change at c.188 was predicted to cause a transition from a threonine to arginine at amino acid 63 of the protein (T63R)»
Cook, D;Brooks S, Bellone R, Bailey E«Missense Mutation in Exon 2 of SLC36A1 Responsible for Champagne Dilution in Horses».PLoS Genetics,4,9,2008. e1000195. DOI: 10.1371/journal.pgen.1000195. PMC: 2535566. PMID: 18802473.«Only one SNP was found, a missense mutation involving a single nucleotide change from a C to a G at base 76 of exon 2 (c.188C>G) (Figure 5). These SLC36A1 alleles were designated c.188[C/G], where c.188 designates the base pair location of the SNP from the first base of SLC36A1 cDNA, exon 1. Sequencing traces for the partial coding sequence of SLC36A1 exon 2 with part of the flanking intronic regions for one non-champagne horse and one champagne horse were deposited in GenBank with the following accession numbers respectively: EU432176 and EU432177. This single base change at c.188 was predicted to cause a transition from a threonine to arginine at amino acid 63 of the protein (T63R)»
Cook, D;Brooks S, Bellone R, Bailey E«Missense Mutation in Exon 2 of SLC36A1 Responsible for Champagne Dilution in Horses».PLoS Genetics,4,9,2008. e1000195. DOI: 10.1371/journal.pgen.1000195. PMC: 2535566. PMID: 18802473.«Only one SNP was found, a missense mutation involving a single nucleotide change from a C to a G at base 76 of exon 2 (c.188C>G) (Figure 5). These SLC36A1 alleles were designated c.188[C/G], where c.188 designates the base pair location of the SNP from the first base of SLC36A1 cDNA, exon 1. Sequencing traces for the partial coding sequence of SLC36A1 exon 2 with part of the flanking intronic regions for one non-champagne horse and one champagne horse were deposited in GenBank with the following accession numbers respectively: EU432176 and EU432177. This single base change at c.188 was predicted to cause a transition from a threonine to arginine at amino acid 63 of the protein (T63R)»
