GJB2 p.L79Cfs3/p.G59Afs18 double mutation Reference Standard

CBPD0015

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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.235del
	AA Change: p.L79Cfs*3
	Chr position(GRCh37): chr13-20763486-G-
	Zygosity: Heterozygous
	Allelic Frequency: 50%
Mutation 2	DNA Change: c.176_191del
	AA Change: p.G59Afs*18
	Chr position(GRCh37): chr13-20763530-CACACGTTCTTGCAGC(16bp)-
	Zygosity: Heterozygous
	Allelic Frequency: 50%
Transcript	NM_004004.6
Variant Classification	Pathogenic
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.L79Cfs3 Figure 2. GJB2 p.G59Afs18
Storage	2-8°C
Expiry	36 months from the date of manufacture

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GJB2 p.L79Cfs*3/p.G59Afs*18 double mutation Reference Standard

GJB2 p.L79Cfs3/p.G59Afs18 double mutation Reference Standard