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BRCA2 p.N1784fs*7 Reference Standard

CBP10390

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Introduction
Format Genomic DNA
Description BRCA2 N1784fs results in a change in the amino acid sequence of the Brca2 protein beginning at aa 1784 of 3418, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the nuclear localization sequence (PMID: 10570174), N1784fs is predicted to lead to a loss of Brca2 protein function.
   
Technical Data
DNA Change c.5345delA
AA Change p.N1784fs*7
Mutation type Frame_Shift_Del
Zygosity Heterozygous
Allelic Frequency 50.00%
Transcript ENST00000380152
Cosmic ID COSM18607
Chr position(GRCh37) chr13:32913843
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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