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Characterization of a novel variant allele, HLA-B*56:04:05, identified in a Chinese Han individual

Liumei He1, Hongyan Zou1

  • 1Immunogenetics Laboratory, Shenzhen Institution of Transfusion Medicine, Shenzhen Blood Center, Shenzhen, China.

HLA
|June 20, 2023
PubMed

Keywords:
HLA-B*56:04:05next generation sequencing (NGS)novel allele

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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,...
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