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基因檢測標準品 > Mutation > CBP10452NOTCH1 p.A1387fs Reference Standard 標準品

NOTCH1 p.A1387fs Reference Standard 標準品
名稱 NOTCH1 p.A1387fs Reference Standard 標準品
型號 CBP10452
報價
特點 NOTCH1 p.A1387fs Reference Standard
  • 詳細內容
CBP10452
GeneNOTCH1
DescriptionNOTCH1, neurogenic locus notch homolog protein 1, is a transmembrane receptor, which plays a role in cell fate determination, growth, survival (PMID: 25388163) and chemoresistance (PMID: 29998084). Activating Notch1 mutations are common in T-cell lymphoblastic leukemia/lymphoma (PMID: 22006338, PMID: 30103821), chronic lymphocytic leukemia (PMID: 29998084) and amplification and/or overexpression has been observed in bladder (PMID: 29643502), colorectal (PMID: 30136202, PMID: 30043645), and gastric cancers (PMID: 30043645).
  
Technical Data 
DNA Changec.4159_4160insAATGCCAGTTCCCG
AA Changep.A1387fs
Mutation typeFrame_Shift_Ins
ZygosityHeterozygous
Allelic Frequency50.00%
TranscriptENST00000277541.6
Cosmic IDN/A
Chr position(GRCh37)chr9:139400189_139400188
BufferTris-EDTA
  
Product Information 
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PuroficationDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencing

CBP10452 sanger.jpg

Storage4℃
Expiry36 months from the date of manufacture


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