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A new HLA-C*07:244 allele identified by sequence-based typing in a Korean individual

D Cho1, M J Jang, C E Yoon

  • 1Department Laboratory Medicine, Chonnam National University Medical School & Chonnam National University Hwasun Hospital, Jeollanamdo, South Korea.

Tissue Antigens
|August 7, 2012
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,...