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Examples of DNA changes affecting genes Nucleotide substitution changing an amino acid

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These include variation in the coat color genes Extension or MC1R, aka black/bay/chestnut (Marklund et al., 1996; see Chapter 7), Cream dilution (Mariat et al., 2003; Chapter 8), and Champagne dilution (Cook et al., 2008; Chapter 8). These three coat color genes show genetic variation because of a SNP in the gene that changes an amino acid making up the protein. These would be called synonymous variants since they are found in exons. Changes in amino acids can alter receptor function or disable enzymatic function.

Horse Genetics

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