B2M p.R117* Reference Standard

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RQP10634
FormatGenomic DNA
DescriptionB2M, 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 Changep.R117*
Mutation typeSubstitution - Nonsense
ZygosityHeterozygous
Allelic Frequency46.3%
TranscriptN/A
Cosmic IDCOSM279094
Chr position(GRCh37)chr15:45008529
Buffer:Tris-EDTA
  
Product Information 
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PurityDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencing
Storage4℃
Expiry36 months from the date of manufacture