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基因检测标准品 > Mutation > CBP10362BRCA1 p.K654fs*47 Reference Standard 标准品

BRCA1 p.K654fs*47 Reference Standard 标准品
名称 BRCA1 p.K654fs*47 Reference Standard 标准品
型号 CBP10362
报价
特点 BRCA1 p.K654fs*47 Reference Standard
  • 详细内容
 CBP10362
FormatGenomic DNA
DescriptionBRCA1 K654fs results in a change in the amino acid sequence of the Brca1 protein beginning at aa 654 of 1863, likely resulting in premature truncation of the functional protein (UniProt.org). K654fs has not been characterized, however, C-terminal deletion mutants downstream of K654 are inactivating (PMID: 16618730), thus K654fs is predicted to lead to a loss of Brca1 protein function.
  
Technical Data
DNA Changec.1961delA
AA Changep.K654fs*47
Mutation typeDeletion - Frameshift
ZygosityHeterozygous
Allelic FrequencyN/A
TranscriptENST00000357654
Cosmic IDCOSM219054
Chr position(GRCh37)chr17:41245587chr17:41245594
BufferTris-EDTA
  
Product Information
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PuroficationDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencing

10362.png

Storage4°C
Expiry36 months from the date of manufacture

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