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ATM p.R337C Reference Standard

CBP10102

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索取COA
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Introduction 
Format Genomic DNA
Description ATM 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 Change p.R337C
Mutation type Missense_Mutation
Zygosity Heterozygous
Allelic Frequency 50.00%
Transcript ENST00000452508.2
Cosmic ID COSM21323
Chr position(GRCh37) chr11:108117798
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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