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BRCA2 p.R2973C Reference Standard

CBP10374

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Introduction
Format Genomic DNA
Description BRCA2 R2973C lies within the DNA-binding domain of the Brca2 protein (PMID: 12228710). R2973C mediates homology-directed DNA repair at a level comparable to wild-type Brca2 in cultured cells (PMID: 23108138) and therefore, is predicted to have no effect on Brca2 protein function.
   
Technical Data
DNA Change c.8917C>T
AA Change p.R2973C
Mutation type Missense_Mutation
Zygosity Heterozygous
Allelic Frequency 100%
Transcript ENST00000380152
Cosmic ID COSM2071543
Chr position(GRCh37) chr13:32953616
Buffer Tris-EDTA
   
Product Information
Intended Use Research Use Only
Unit Size 1ug
Concentration Download for COA
Purofication Download for COA
DNA electrophoresis Download for COA
Sanger sequencing
Storage 2-8°C
Expiry 36 months from the date of manufacture

 

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