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首頁(yè) /診斷試劑 /遺傳性基因標(biāo)準(zhǔn)品 /遺傳性耳聾 /GJB2 p.G12Vfs*2 Reference Standard

GJB2 p.G12Vfs*2 Reference Standard

CBPD0021

產(chǎn)品描述
產(chǎn)品數(shù)據(jù)庫(kù)
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 
DNA Change c.35delG
AA Change p.G12Vfs*2
Zygosity Heterozygous
Allelic Frequency 50%
Chr position (GRCh37) chr13-20763686-C-
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
Storage 2-8°C
Expiry 36 months from the date of manufacture

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