GJB2 p.L79Cfs*3/p.G59Afs*18 double mutation Reference Standard
CBPD0015
询 价
索取COA
产品描述
产品数据库
| 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 | |
| Mutation 1 | DNA Change: c.235del |
| AA Change: p.L79Cfs*3 | |
| Chr position(GRCh37): chr13-20763486-G- | |
| Zygosity: Heterozygous | |
| Allelic Frequency: 50% | |
| Mutation 2 | DNA Change: c.176_191del |
| AA Change: p.G59Afs*18 | |
| Chr position(GRCh37): chr13-20763530-CACACGTTCTTGCAGC(16bp)- | |
| Zygosity: Heterozygous | |
| Allelic Frequency: 50% | |
| Transcript | NM_004004.6 |
| Variant Classification | Pathogenic |
| 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.L79Cfs*3
Figure 2. GJB2 p.G59Afs*18 |
| Storage | 2-8°C |
| Expiry | 36 months from the date of manufacture |
