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Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
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Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

Single nucleotide polymorphism genotyping in MMP genes: the 5' nuclease assay

Ross Laxton1, Shu Ye

  • 1Barts and the London School of Medicine and Dentistry, William Harvey Research Institute, London, UK.

Methods in Molecular Biology (Clifton, N.J.)
|February 6, 2010
PubMed

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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...