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A novel HLA-C*03 variant, HLA-C*03:620, identified in a Chinese individual

Wenwen Pi1, Ying Li1, Chen Chen1

  • 1HLA Typing Laboratory, Blood Center of Zhejiang Province, Hangzhou, China.

HLA
|May 3, 2024
PubMed

Abstract:

HLA-C*03:620 differs from the HLA-C*03:04:01:02 allele by one nucleotide substitution in the exon 3.

Keywords:
HLA‐C*03:620next‐generation sequencingnovel 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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