GJB2 p.G12Vfs*2/p.M34T double mutation Reference Standard

CBPD0022

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產(chǎn)品描述

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Introduction
Format	Genomic DNA
Description	Genetic deafness is a hearing disorder caused by genetic mutations. It is mainly caused by the mutation of mutations in genetic deaf genes and is inherited to descendants. Common deaf genes include GJB2, GJB3, SLC26A4, mitochondrial 12S RRNA, etc.

Technical Data
Mutation 1	DNA Change: c.35delG
	AA Change: p.G12Vfs*2
	Chr position(GRCh37): chr13-20763686-C-
	Zygosity: Heterozygous
	Allelic Frequency: 50%
Mutation 2	DNA Change: c.101T>C
	AA Change: p.M34T
	Chr position(GRCh37): chr13-20763620-A-G
	Zygosity: Heterozygous
	Allelic Frequency: 50%
Transcript	NM_004004.6
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	Figure 1. GJB2 p.G12Vfs*2 Figure 2. GJB2 p.M34T
Storage	4°C
Expiry	36 months from the date of manufacture

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GJB2 p.G12Vfs*2/p.M34T double mutation Reference Standard