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Identification of a novel HLA-B allele, HLA-B*54:47, in a Korean individual

Hae In Bang1, Sooin Choi2, Miyeon Seo3

  • 1Department of Laboratory Medicine, Soonchunhyang University Seoul Hospital, Soonchunhyang University College of Medicine, Seoul, Korea.

HLA
|September 26, 2023
PubMed

Keywords:
HLA-B*54:47HLA-BKoreannew allelenext-generation sequencing

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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,...