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基因檢測標(biāo)準(zhǔn)品 > 遺傳性耳聾 > CBPD0016GJB2 p.E120del/p.M195I double mutation Reference S

GJB2 p.E120del/p.M195I double mutation Reference S
名稱 GJB2 p.E120del/p.M195I double mutation Reference S
型號 CBPD0016
報價
特點(diǎn) GJB2 p.E120del/p.M195I double mutation Reference Standard
  • 詳細(xì)內(nèi)容
 CBPD0016
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.358_360del
AA Change: p.E120del
Chr position(GRCh37): chr13-20763361-CTC-
Zygosity: Heterozygous
Allelic Frequency: 50%
Variant Classification: Pathogenic
Mutation 2DNA Change: c.585G>A
AA Change: p.M195I
Chr position(GRCh37): chr13-20763136-C-T
Zygosity: Heterozygous
Allelic Frequency: 50%
Variant Classification: Uncertain significance
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

CBPD0016 GJB2 p.E120del.jpg

Figure 1. GJB2 p.E120del

CBPD0016 GJB2p.M195I.png

Figure 2. GJB2 p.M195I

Storage4°C
Expiry36 months from the date of manufacture

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