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A new HLA-B*51 variant, B*5158, identified by sequence-based typing in a Korean individual

E Y Roh1, S Shin, J H Yoon

  • 1Department of Laboratory Medicine, Seoul National University Boramae Hospital, Seoul, Korea. 75-crimson@hanmail.net

Tissue Antigens
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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,...