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科研细胞
药靶细胞
标准品
NGS靶向捕获探针
GJB2 p.E120del/p.M195I double mutation Reference Standard
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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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