名稱 | STK11 p.D194Y Reference Standard 標(biāo)準(zhǔn)品 |
型號 | CBP10420 |
報(bào)價(jià) | |
特點(diǎn) | STK11 p.D194Y Reference Standard |
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Email: zhangxiangwen@cobioer.com
電話:4008750250
號碼:
手機(jī):18066071954
地址:南京市棲霞區(qū)緯地路9號
Email: zhangxiangwen@cobioer.com
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基因檢測標(biāo)準(zhǔn)品 > Mutation > CBP10420STK11 p.D194Y Reference Standard 標(biāo)準(zhǔn)品
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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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