| 名稱(chēng) | STK11 p.D194Y Reference Standard 標(biāo)準(zhǔn)品 |
| 型號(hào) | CBP10420 |
| 報(bào)價(jià) |  |
| 特點(diǎn) | STK11 p.D194Y Reference Standard |
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基因檢測(cè)標(biāo)準(zhǔn)品 > Mutation > CBP10420STK11 p.D194Y Reference Standard 標(biāo)準(zhǔn)品
- 詳細(xì)內(nèi)容
CBP10420 | |
| Gene | STK11 |
| Description | This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms |
| Technical Data | |
| AA Change | p.D194Y |
| CDS Change | c.580G>T |
| Mutation type | Substitution - Missense |
| Zygosity | Homozygous |
| Frequence | 100% |
| Transcript | ENST00000326873 |
| Cosmic ID | COSM20944 |
| Chr position(GRCh37) | chr19:1220487 |
| 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 |
|
| Storage | 4℃ |
| Expiry | 36 months from the date of manufacture |
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