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基因检测标准品 > Mutation > CBP10391BRCA2 p.N1784fs*3 Reference Standard 标准品

BRCA2 p.N1784fs*3 Reference Standard 标准品
名称 BRCA2 p.N1784fs*3 Reference Standard 标准品
型号 CBP10391
报价
特点 BRCA2 p.N1784fs*3 Reference Standard
  • 详细内容
 CBP10391
FormatGenomic DNA
DescriptionBRCA2 N1784fs results in a change in the amino acid sequence of the Brca2 protein beginning at aa 1784 of 3418, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the nuclear localization sequence (PMID: 10570174), N1784fs is predicted to lead to a loss of Brca2 protein function.
  
Technical Data
DNA Changec.5344_5345insA
AA Changep.N1784fs*3
Mutation typeInsertion - Frameshift
ZygosityHeterozygous
Allelic Frequency50.00.%
TranscriptENST00000380152
Cosmic IDN/A
Chr position(GRCh37)chr13:32913836_32913837
BufferTris-EDTA
  
Product Information
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PuroficationDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencing

10391.png

Storage4°C
Expiry36 months from the date of manufacture

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