| 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 |
產(chǎn)品搜索
相關(guān)文章
- 免疫治療的下一個(gè)靶標(biāo)：腫瘤相關(guān)巨噬細(xì)胞？
- 羅氏乳腺癌新藥獲英國(guó)NICE批準(zhǔn)用于HER2乳腺癌新輔助治療
- 科學(xué)家發(fā)現(xiàn)10個(gè)新的智力障礙易感基因
- 神舟十一號(hào)成功發(fā)射！哪些生物實(shí)驗(yàn)跟著上天了？
- 對(duì)ATCC細(xì)胞培養(yǎng)時(shí)的試劑有何要求？
- ATCC細(xì)胞如何培養(yǎng)？
- CD47/PD-(L)1 雙靶點(diǎn)細(xì)胞篩選模型簡(jiǎn)介
- 基于納米顆粒的組合免疫療法對(duì)致命性癌癥發(fā)起三重打擊
- 雙面PD1，Blocker已成卷王，agonist賽道你上車了嗎？
- ctDNA液體活檢診斷標(biāo)準(zhǔn)品
聯(lián)系我們
聯(lián)系人：蔣經(jīng)理
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
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
產(chǎn)品展示 / PRODUCTS
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 |
會(huì)員_a.png)