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BRCA1 p.Q1756fs Reference Standard

CBP10360

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索取COA
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产品数据库
Introduction
Format Genomic DNA
Description BRCA1 Q1756* results in a premature truncation of the Brca1 protein at amino acid 1756 of 1863 (UniProt.org). Q1756* has not been characterized, however, other BRCT domain deletion mutants downstream of Q1756 are destablizing (PMID: 14534301), thus Q1756* is predicted to lead to a loss of Brca1 protein function.
   
Technical Data
DNA Change c.5266dup C
AA Change p.Q1756fs
Mutation type Frame_Shift_Ins
Zygosity Homozygous
Allelic Frequency 100.00%
Transcript ENST00000357654
Cosmic ID N/A
Chr position(GRCh37) chr17:41209080
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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