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基因检测标准品 > Mutation > CBP10248CREBBP p.R1446C Reference Standard 标准品

CREBBP p.R1446C Reference Standard 标准品
名称 CREBBP p.R1446C Reference Standard 标准品
型号 CBP10248
报价
特点 CREBBP p.R1446C Reference Standard
  • 详细内容
 CBP10248
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.4336C>T
AA Changep.R1446C
Mutation typeSubstitution - Missense
ZygosityHeterozygous
Allelic Frequency66.67%
TranscriptNM_004380.3
Cosmic IDCOSM88749
Chr position(GRCh37)chr16:3788618
BufferTris-EDTA
  
Product Information 
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PuroficationDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencing

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Storage4℃
Expiry36 months from the date of manufacture
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