ATM p.R337C Reference Standard

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RQP10102
FormatGenomic DNA
DescriptionATM R337C does not lie within any known functional domains of the Atm protein (UniProt.org). R337C has been identified in sequencing studies (PMID: 27334835, PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
  
Technical Data 
DNA Change:c.1009C>T
AA Changep.R337C
Mutation typeMissense_Mutation
ZygosityHeterozygous
Allelic Frequency50.00%
TranscriptENST00000452508.2
Cosmic IDCOSM21323
Chr position(GRCh37)chr11:108117798
Buffer:Tris-EDTA
  
Product Information 
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PurityDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencing10102.jpg
Storage4℃
Expiry36 months from the date of manufacture