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基因检测标准品 > Mutation > CBP10558CREBBP p.L470* Reference Standard 标准品

CREBBP p.L470* Reference Standard 标准品
名称 CREBBP p.L470* Reference Standard 标准品
型号 CBP10558
报价
特点 CREBBP p.L470* Reference Standard
  • 详细内容
 CBP10558
FormatGenomic DNA
DescriptionCREBBP, CREB-binding protein, is an acetyltransferase (PMID: 30181244) that plays a key role in transcription regulation for a number of different genes involved in a variety of cellular processes including proliferation, differentiation, apoptosis, and DNA repair (PMID: 27380996, PMID: 20435671). Expression, mutations and chromosomal translocations of CREBBP have been associated with various human cancers (PMID: 23839013; PMID: 21390130; PMID: 23022987; PMID: 9290955), including glioblastoma, leukemia (PMID: 21390130, PMID: 21390126, PMID: 25423036), and small cell lung cancer (PMID: 30181244).
  
Technical Data 
DNA Changec.1409del
AA Changep.L470*
Mutation typeDeletion - Frameshift 
ZygosityHeterozygous
Allelic Frequency50%
TranscriptNM_004380.3
Cosmic IDCOSM88767
Chr position(GRCh37)chr16:3832851
BufferTris-EDTA
  
Product Information 
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PuroficationDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencing

10558.png

Storage4℃
Expiry36 months from the date of manufacture

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