MSH6 (NM_000179) Human Mutant ORF Clone

Specifications

Product Data
Product Name	MSH6 (NM_000179) Human Mutant ORF Clone
Mutation Description	R248X
Affected Codon#	248
Affected NT#	742
Nucleotide Mutation	MSH6 Mutant (R248X), Myc-DDK-tagged ORF clone of Homo sapiens mutS homolog 6 (E. coli) (MSH6) as transfection-ready DNA
Effect	Endomeril ner
Synonyms	GTBP; GTMBP; HNPCC5; HSAP; MMRCS3; p160
Vector	pCMV6-Entry
Tag	Myc-DDK
ACCN	NM_000179
ORF Size	741 bp
Sequence Data	ORF Nucleotide Sequence (showhide) >RC401398 representing NM_000179 Red=Cloning site Blue=ORF Green=Tags(s) TTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCC GCCGCGATCGCC ATGTCGCGACAGAGCACCCTGTACAGCTTCTTCCCCAAGTCTCCGGCGCTGAGTGATGCCAACAAGGCCT CGGCCAGGGCCTCACGCGAAGGCGGCCGTGCCGCCGCTGCCCCCGGGGCCTCTCCTTCCCCAGGCGGGGA TGCGGCCTGGAGCGAGGCTGGGCCTGGGCCCAGGCCCTTGGCGCGCTCCGCGTCACCGCCCAAGGCGAAG AACCTCAACGGAGGGCTGCGGAGATCGGTAGCGCCTGCTGCCCCCACCAGTTGTGACTTCTCACCAGGAG ATTTGGTTTGGGCCAAGATGGAGGGTTACCCCTGGTGGCCTTGTCTGGTTTACAACCACCCCTTTGATGG AACATTCATCCGCGAGAAAGGGAAATCAGTCCGTGTTCATGTACAGTTTTTTGATGACAGCCCAACAAGG GGCTGGGTTAGCAAAAGGCTTTTAAAGCCATATACAGGTTCAAAATCAAAGGAAGCCCAGAAGGGAGGTC ATTTTTACAGTGCAAAGCCTGAAATACTGAGAGCAATGCAACGTGCAGATGAAGCCTTAAATAAAGACAA GATTAAGAGGCTTGAATTGGCAGTTTGTGATGAGCCCTCAGAGCCAGAAGAGGAAGAAGAGATGGAGGTA GGCACAACTTACGTAACAGATAAGAGTGAAGAAGATAATGAAATTGAGAGTGAAGAGGAAGTACAGCCTA AGACACAAGGATCTAGGCGAAGTAGCCGCCAAATAAAAAAA AGCGGACCGACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCC TGGATTACAAGGATGACGACGA TAAGGTTTAA Protein Sequence (showhide) >RC401398 representing NM_000179 Red=Cloning site Green=Tags(s) MSRQSTLYSFFPKSPALSDANKASARASREGGRAAAAPGASPSPGGDAAWSEAGPGPRPLARSASPPKAK NLNGGLRRSVAPAAPTSCDFSPGDLVWAKMEGYPWWPCLVYNHPFDGTFIREKGKSVRVHVQFFDDSPTR GWVSKRLLKPYTGSKSKEAQKGGHFYSAKPEILRAMQRADEALNKDKIKRLELAVCDEPSEPEEEEEMEV GTTYVTDKSEEDNEIESEEEVQPKTQGSRRSSRQIKK SGPTRTRRLEQKLISEEDLAANDILDYKDDDDKV
Restriction Sites	SgfI-MluI      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_000170
RefSeq Size	741 bp
RefSeq ORF	4083 bp
Locus ID	2956
Domains	PWWP, MutS_V, MutS_I, MutS_III, MutS_II, MutS_IV
Protein Families	Druggable Genome, Stem cell - Pluripotency
Protein Pathways	Colorectal cancer, Mismatch repair, Pathways in cancer
MW	27.2 kDa
Gene Summary	This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]

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