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基因检测标准品 > Mutation > CBP10389BRCA2 p.S1982fs*22 Reference Standard 标准品

BRCA2 p.S1982fs*22 Reference Standard 标准品
名称 BRCA2 p.S1982fs*22 Reference Standard 标准品
型号 CBP10389
报价
特点 BRCA2 p.S1982fs*22 Reference Standard
  • 详细内容


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 CBP10389
FormatGenomic DNA
DescriptionBRCA2 S1982fs results in a change in the amino acid sequence of the Brca2 protein beginning at aa 1982 of 3418, likely resulting in premature truncation of the functional protein (UniProt.org). S1982fs has not been characterized, however, due to the effects of other truncations downstream of S1982 (PMID: 12619154, PMID: 15695382), S1982fs is predicted to lead to a loss of Brca2 protein function.
  
Technical Data
DNA Changec.5946delT
AA Changep.S1982fs*22
Mutation typeFrame_Shift_Del
ZygosityHomozygous
Allelic Frequency100.00%
TranscriptENST00000380152
Cosmic IDCOSM26515
Chr position(GRCh37)chr13:32914438
BufferTris-EDTA
  
Product Information
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PuroficationDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencing

10389.png

Storage4°C
Expiry36 months from the date of manufacture

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