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BRCA1 p.E23fs*17 Reference Standard

CBP10363

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Introduction
Format Genomic DNA
Description BRCA1 E23Vfs*17 (also referred to as BRCA1 185delAG) indicates a shift in the reading frame starting at amino acid 23 and terminating 17 residues downstream causing a premature truncation of the 1863 amino acid Brca1 protein (UniProt.org). E23Vfs*17 confers a loss of function to the Brca1 protein as indicated by embryonic lethality in homozygous transgenic mouse models and tumorigenesis in heterozygous transgenic mouse models (PMID: 27454287).
   
Technical Data
DNA Change c.66_67delAG
AA Change p.E23fs*17
Mutation type Deletion - Frameshift
Zygosity Heterozygous
Allelic Frequency 100%
Transcript ENST00000357654
Cosmic ID N/A
Chr position(GRCh37) chr17:41276045_41276046
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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