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B2M p.R117* Reference Standard

CBP10634

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Introduction 
Format Genomic DNA
Description B2M, beta-2-microglobulin, forms the light chain of the class I major histocompatibility complex (MHC) and is required for antigen presentation during the immune response. B2M loss of function mutations have been associated with mismatch repair (MMR) deficiency in colon cancer and with acquired resistance to immune checkpoint inhibitors in melanoma .
   
Technical Data 
DNA Change: c.349C>T
AA Change p.R117*
Mutation type Substitution - Nonsense
Zygosity Heterozygous
Allelic Frequency 46.3%
Transcript N/A
Cosmic ID COSM279094
Chr position(GRCh37) chr15:45008529
Buffer: Tris-EDTA
   
Product Information 
Intended Use Research Use Only
Unit Size 1ug
Concentration Download for COA
Purity Download for COA
DNA electrophoresis Download for COA
Sanger sequencing
Storage 2-8℃
Expiry 36 months from the date of manufacture

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