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產(chǎn)品型號CBP10362

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產(chǎn)品簡介

供貨周期	現(xiàn)貨	規(guī)格	1ug
貨號	CBP10362	應(yīng)用領(lǐng)域	生物產(chǎn)業(yè)

BRCA1 p.K654fs*47 Reference Standard

CBP10362
Format	Genomic DNA
Description	BRCA1 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 Change	c.1961delA
AA Change	p.K654fs*47
Mutation type	Deletion - Frameshift
Zygosity	Heterozygous
Allelic Frequency	N/A
Transcript	ENST00000357654
Cosmic ID	COSM219054
Chr position(GRCh37)	chr17:41245587chr17:41245594
Buffer	Tris-EDTA

Product Information
Intended Use	Research Use Only
Unit Size	1ug
Concentration	Download for COA
Purofication	Download for COA
DNA electrophoresis	Download for COA
Sanger sequencing
Storage	4°C
Expiry	36 months from the date of manufacture