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Detection of Five New and Confirmation of Three HLA-C Alleles

Maria Loginova1,2, Daria Smirnova1, Igor Paramonov1

  • 1Federal State Budget Research Institution: Kirov Hematology and Blood Transfusion Research Institute Under the Federal Medicine and Biology Agency, Kirov, Russia.

HLA
|May 19, 2025
PubMed

Keywords:
HLA‐CNGSbone marrow donornovel allele

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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,...