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

CBPD0022

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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	2-8°C
Expiry	36 months from the date of manufacture

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藥靶模型聯(lián)系方式: 華東銷售經(jīng)理(上海）：18240630236 華東銷售經(jīng)理(上海、江蘇、安徽）：15715191010 華北銷售經(jīng)理：18628311252 華南銷售經(jīng)理：13823536064 華中&華西銷售經(jīng)理：18071545918 華中&西南銷售經(jīng)理：13871580511 全國銷售經(jīng)理：13816461235
診斷標(biāo)準(zhǔn)品聯(lián)系方式：華東銷售經(jīng)理：15000320447 華北銷售經(jīng)理：18628311252 華南銷售經(jīng)理：13823536064 華中&華西銷售經(jīng)理：18071545918 華中&西南銷售經(jīng)理：13871580511 全國銷售經(jīng)理：13816461235

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