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

CBPD0022

询价

索取COA

产品描述

产品数据库

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

相关产品推荐

• AI-Edigene® GJB3 p.E183K Reference Standard Plus • AI-Edigene® GJB3 p.R180* Reference Standard Plus • AI-Edigene® SLC26A4 IVS7-2A>G Reference Standard Plus • AI-Edigene® SLC26A4 p.H723R Reference Standard Plus • ChrMT_ m.1555 A>G Reference Standard • ChrMT_1494 m.1494C>T Reference Standard • GJB2 p.E120del/p.M195I double mutation Reference Standard • GJB2 p.G12Vfs*2 Reference Standard • GJB2 p.G4D Reference Standard • GJB2 p.L79Cfs*3/p.G59Afs*18 double mutation Reference Standard

上一篇：GJB2 p.G4D Reference Standard

下一篇：GJB2 p.G12Vfs*2 Reference Standard

返回列表

药靶模型联系方式: 华东销售经理(上海）：18240630236 华东销售经理(上海、江苏、安徽）：15715191010 华北销售经理：18628311252 华南销售经理：13823536064 华中&华西销售经理：18071545918 华中&西南销售经理：13871580511 全国销售经理：13816461235
诊断标准品联系方式：华东销售经理：15000320447 华北销售经理：18628311252 华南销售经理：13823536064 华中&华西销售经理：18071545918 华中&西南销售经理：13871580511 全国销售经理：13816461235

扫二维码

立即提交