BRCA1 p.E23fs*17 Reference Standard

CBP10363

询价

索取COA

产品描述

产品数据库

Introduction
Format	Genomic DNA
Description	BRCA1 E23Vfs17 (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). E23Vfs17 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	Homozygous
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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