| 名稱 | GJB2 p.E120del/p.M195I double mutation Reference S |
| 型號(hào) | CBPD0016 |
| 報(bào)價(jià) |  |
| 特點(diǎn) | GJB2 p.E120del/p.M195I double mutation Reference Standard |
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電話：4008750250
號(hào)碼：
手機(jī)：18066071954
地址：南京市棲霞區(qū)緯地路9號(hào)
Email： zhangxiangwen@cobioer.com
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基因檢測(cè)標(biāo)準(zhǔn)品 > 遺傳性耳聾 > CBPD0016GJB2 p.E120del/p.M195I double mutation Reference S
- 詳細(xì)內(nèi)容
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 |
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