p57 Kip2 (CDKN1C) (NM_000076) Human Mutant ORF Clone

Specifications

Product Data
Product Name	p57 Kip2 (CDKN1C) (NM_000076) Human Mutant ORF Clone
Mutation Description	Q230X
Affected Codon#	230
Affected NT#	688
Nucleotide Mutation	CDKN1C Mutant (Q230X), Myc-DDK-tagged ORF clone of Homo sapiens cyclin-dependent kinase inhibitor 1C (p57, Kip2) (CDKN1C), transcript variant 1 as transfection-ready DNA
Effect	Beckwith-Wiedemann syndrome
Synonyms	BWCR; BWS; KIP2; p57; p57Kip2; WBS
Vector	pCMV6-Entry
Tag	Myc-DDK
ACCN	NM_000076
ORF Size	687 bp
Sequence Data	ORF Nucleotide Sequence (showhide) >RC401068 representing NM_000076 Red=Cloning site Blue=ORF Green=Tags(s) TTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCC GCCGCGATCGCC ATGTCCGACGCGTCCCTCCGCAGCACATCCACGATGGAGCGTCTTGTCGCCCGTGGGACCTTCCCAGTAC TAGTGCGCACCAGCGCCTGCCGCAGCCTCTTCGGGCCGGTGGACCACGAGGAGCTGAGCCGCGAGCTGCA GGCCCGCCTGGCCGAGCTGAACGCCGAGGACCAGAACCGCTGGGATTACGACTTCCAGCAGGACATGCCG CTGCGGGGCCCTGGACGCCTGCAGTGGACCGAAGTGGACAGCGACTCGGTGCCCGCGTTCTACCGCGAGA CGGTGCAGGTGGGGCGCTGCCGCCTGCTGCTGGCGCCGCGGCCCGTCGCGGTCGCGGTGGCTGTCAGCCC GCCCCTCGAGCCGGCCGCTGAGTCCCTCGACGGCCTCGAGGAGGCGCCGGAGCAGCTGCCTAGTGTCCCG GTCCCGGCCCCGGCGTCCACCCCGCCCCCAGTCCCGGTCCTGGCTCCAGCCCCGGCCCCGGCTCCGGCTC CGGTCGCGGCTCCGGTCGCGGCTCCGGTCGCGGTCGCGGTCCTGGCCCCGGCCCCGGCCCCGGCTCCGGC TCCGGCTCCGGCCCCGGCTCCAGTCGCGGCCCCGGCCCCAGCCCCGGCCCCGGCCCCGGCCCCGGCCCCC GCCCCGGCCCCGGCCCCGGACGCGGCGCCTCAAGAGAGCGCCGAGCAGGGCGCGAAC AGCGGACCGACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCC TGGATTACAAGGATGACGACGA TAAGGTTTAA Protein Sequence (showhide) >RC401068 representing NM_000076 Red=Cloning site Green=Tags(s) MSDASLRSTSTMERLVARGTFPVLVRTSACRSLFGPVDHEELSRELQARLAELNAEDQNRWDYDFQQDMP LRGPGRLQWTEVDSDSVPAFYRETVQVGRCRLLLAPRPVAVAVAVSPPLEPAAESLDGLEEAPEQLPSVP VPAPASTPPPVPVLAPAPAPAPAPVAAPVAAPVAVAVLAPAPAPAPAPAPAPAPVAAPAPAPAPAPAPAP APAPAPDAAPQESAEQGAN SGPTRTRRLEQKLISEEDLAANDILDYKDDDDKV
Restriction Sites	SgfI-RsrII      Cloning Scheme for this gene
OTI Disclaimer	Due to the inherent nature of this plasmid, standard methods to replicate additional amounts of DNA in E. coli are highly likely to result in mutations and/or rearrangements. Therefore, OriGene does not guarantee the capability to replicate this plasmid DNA. Additional amounts of DNA can be purchased from OriGene with batch-specific, full-sequence verification at a reduced cost. Please contact our customer care team at custsupport@origene.com or by calling 301.340.3188 option 3 for pricing and delivery. The molecular sequence of this clone aligns with the gene accession number as a point of reference only. However, individual transcript sequences of the same gene can differ through naturally occurring variations (e.g. polymorphisms), each with its own valid existence. This clone is substantially in agreement with the reference, but a complete review of all prevailing variants is recommended prior to use. More info
OTI Annotation	This clone was engineered to express the complete ORF with an expression tag. Expression varies depending on the nature of the gene.
Reference Data
RefSeq	NP_000067
RefSeq Size	687 bp
RefSeq ORF	951 bp
Locus ID	1028
Domains	CDI
Protein Families	Druggable Genome
Protein Pathways	Cell cycle
MW	25.2 kDa
Gene Summary	This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

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