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首頁(yè) /診斷試劑 /遺傳性基因標準品 /遺傳性耳聾 /AI-Edigene? GJB3 p.R180* Reference Standard Plus

AI-Edigene? GJB3 p.R180* Reference Standard Plus

CBPD0028

產(chǎn)品描述
產(chǎn)品數據庫
Introduction
Format Genomic DNA
Description GJB3 (Gap Junction Protein Beta 3) is a Protein Coding gene. Diseases associated with GJB3 include Erythrokeratodermia Variabilis Et Progressiva 1 and Deafness, Autosomal Dominant 2B.
   
Technical Data 
DNA Change c.538C>T
AA Change p.R180* 
Zygosity Heterozygous
Allelic Frequency 50%
Chr position (GRCh38) N/A
Transcript N/A
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
Storage 2-8°C
Expiry 36 months from the date of manufacture

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