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南京科佰生物科技有限公司

CBPD0016GJB2 p.E120del/p.M195I double mutation Reference S

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更新時間：2023-07-12 09:25:18瀏覽次數：725

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【簡單介紹】

GJB2 p.E120del/p.M195I double mutation Reference Standard

【詳細說明】

CBPD0016
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.358_360del
	AA Change: p.E120del
	Chr position(GRCh37): chr13-20763361-CTC-
	Zygosity: Heterozygous
	Allelic Frequency: 50%
	Variant Classification: Pathogenic
Mutation 2	DNA Change: c.585G>A
	AA Change: p.M195I
	Chr position(GRCh37): chr13-20763136-C-T
	Zygosity: Heterozygous
	Allelic Frequency: 50%
	Variant Classification: Uncertain significance
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.E120del Figure 2. GJB2 p.M195I
Storage	4°C
Expiry	36 months from the date of manufacture