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基因检测标准品 > Mutation > CBP10327PIK3CA p.G118D Reference Standard 标准品

PIK3CA p.G118D Reference Standard 标准品
名称 PIK3CA p.G118D Reference Standard 标准品
型号 CBP10327
报价
特点 PIK3CA p.G118D Reference Standard 标准品
  • 详细内容

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 CBP10327
FormatGenomic DNA
DescriptionPIK3CA G118D lies within the region linking the PI3K-ABD and PI3K-RBD domains of the Pik3ca protein (UniProt.org). G118D confers a gain of function on the Pik3ca protein as indicated by enhanced lipid kinase activity in cell culture, increased phosphorylation of Akt in cells derived from Cowden syndrome patients harboring germline mutations (PMID: 22949682, PMID: 23246288), and increased transformation ability in two different cell lines (PMID: 29533785).
  
Technical Data 
DNA Changec.353G>A
AA Changep.G118D
Mutation typeSubstitution - Missense
ZygosityHeterozygous
Allelic Frequency75.00%
TranscriptNM_006218.1
Cosmic IDCOSM751
Chr position(GRCh37)chr3:178917478
BufferTris-EDTA
  
Product Information 
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PuroficationDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencing

CBP10327 新sanger.jpg

Storage4℃
Expiry36 months from the date of manufacture

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