What variation occurs in the mtDNA?

    The most common type of mutation or variation found in mtDNA is called a “SNP” (stands for single nucleotide polymorphism). A SNP occurs when a single letter (nucleotide) in the DNA code is replaced with a different nucleotide.

    For example, in this diagram, the “T” at location 40 is replaced by a “G.”

    This mutation is documented as follows:

    Location: 40

    Nucleotide Change: T>G (also indicated as T40G)

    In your mtDNA results report, your genetic variations will be documented the same way. These are all variation from the revised Cambridge Reference Sequence.


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