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BRCA1 p.K654fs*47 Reference Standard

CBP10362

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Introduction
Format Genomic DNA
Description BRCA1 K654fs results in a change in the amino acid sequence of the Brca1 protein beginning at aa 654 of 1863, likely resulting in premature truncation of the functional protein (UniProt.org). K654fs has not been characterized, however, C-terminal deletion mutants downstream of K654 are inactivating (PMID: 16618730), thus K654fs is predicted to lead to a loss of Brca1 protein function.
   
Technical Data
DNA Change c.1961delA
AA Change p.K654fs*47
Mutation type Deletion - Frameshift
Zygosity Heterozygous
Allelic Frequency 50%(DdPCR)
Transcript ENST00000357654
Cosmic ID COSM219054
Chr position(GRCh37) chr17:41245587chr17:41245594
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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