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基因检测标准品 > 遗传性耳聋 > CBPD0022GJB2 p.G12Vfs*2/p.M34T double mutation Reference S

GJB2 p.G12Vfs*2/p.M34T double mutation Reference S
名称 GJB2 p.G12Vfs*2/p.M34T double mutation Reference S
型号 CBPD0022
报价
特点 GJB2 p.G12Vfs*2/p.M34T double mutation Reference Standard
  • 详细内容
 CBPD0022
FormatGenomic DNA
DescriptionGenetic 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 1DNA Change: c.35delG
AA Change: p.G12Vfs*2
Chr position(GRCh37): chr13-20763686-C-
Zygosity: Heterozygous
Allelic Frequency: 50%
Mutation 2DNA Change: c.101T>C
AA Change: p.M34T
Chr position(GRCh37): chr13-20763620-A-G
Zygosity: Heterozygous
Allelic Frequency: 50%
TranscriptNM_004004.6
BufferTris-EDTA
  
Product Information 
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PuroficationDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencing

CBPD0022 G12Vfs.jpg

Figure 1. GJB2 p.G12Vfs*2

CBPD0022 GM23835 GJB2 M34T.png

Figure 2. GJB2 p.M34T

Storage4°C
Expiry36 months from the date of manufacture

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