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基因检测标准品 > Mutation > CBP10386BRCA2 p.C1200fs*1 Reference Standard 标准品

BRCA2 p.C1200fs*1 Reference Standard  标准品
名称 BRCA2 p.C1200fs*1 Reference Standard 标准品
型号 CBP10386
报价
特点 BRCA2 p.C1200fs*1 Reference Standard
  • 详细内容
 CBP10386
FormatGenomic DNA
DescriptionBRCA2 C1200fs results in a change in the amino acid sequence of the Brca2 protein beginning at aa 1200 of 3418, likely resulting in premature truncation of the functional protein (UniProt.org). C1200fs has not been characterized, however, due to the effects of other truncations downstream of C1200 (PMID: 12619154, PMID: 15695382), C1200fs is predicted to lead to a loss of Brca2 protein function.
  
Technical Data
DNA Changec.3598_3599delTG
AA Changep.C1200fs*1
Mutation typeFrame_Shift_Del
ZygosityHeterozygous
Allelic Frequency50.00%
TranscriptENST00000380152.3
Cosmic IDCOSM18623
Chr position(GRCh37)chr13:32912091
BufferTris-EDTA
  
Product Information
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PuroficationDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencing

10386.png

Storage4°C
Expiry36 months from the date of manufacture
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