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Brandon J DeKosky1

  • 1Pharmaceutical Chemistry, Chemical Engineering, The University of Kansas, Lawrence, KS 66044, USA. dekosky@ku.edu.

Science (New York, N.Y.)
|September 5, 2020
PubMed
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No abstract available in 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,...