名稱 | GJB2 p.G12Vfs*2/p.M34T double mutation Reference S |
型號 | CBPD0022 |
報價 | |
特點 | GJB2 p.G12Vfs*2/p.M34T double mutation Reference Standard |
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聯(lián)系人:蔣經(jīng)理
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Email: zhangxiangwen@cobioer.com
電話:4008750250
號碼:
手機:18066071954
地址:南京市棲霞區(qū)緯地路9號
Email: zhangxiangwen@cobioer.com
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- 詳細內(nèi)容
CBPD0022 | |
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.35delG |
AA Change: p.G12Vfs*2 | |
Chr position(GRCh37): chr13-20763686-C- | |
Zygosity: Heterozygous | |
Allelic Frequency: 50% | |
Mutation 2 | DNA Change: c.101T>C |
AA Change: p.M34T | |
Chr position(GRCh37): chr13-20763620-A-G | |
Zygosity: Heterozygous | |
Allelic Frequency: 50% | |
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.G12Vfs*2 Figure 2. GJB2 p.M34T |
Storage | 4°C |
Expiry | 36 months from the date of manufacture |