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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

STK11 p.D194Y Reference Standard 標(biāo)準(zhǔn)品
名稱 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
  • 詳細(xì)內(nèi)容
 CBP10420
GeneSTK11
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   Changep.D194Y  
CDS Changec.580G>T 
Mutation typeSubstitution - Missense
ZygosityHomozygous
Frequence100%
TranscriptENST00000326873
Cosmic IDCOSM20944
Chr position(GRCh37)chr19:1220487
BufferTris-EDTA
  
Product Information 
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PuroficationDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencing

CBP10420.jpg

Storage4℃
Expiry36 months from the date of manufacture

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