Tuberin (TSC2) (NM_000548) Human Mutant ORF Clone

CAT#: RC402316

  • TrueORF®

TSC2 Mutant (C206X), Myc-DDK-tagged ORF clone of Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1 as transfection-ready DNA



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CNY 3,990.00


货期*
3周

规格
    • 10 ug

Product images

Specifications

Product Data
Product Name Tuberin (TSC2) (NM_000548) Human Mutant ORF Clone
Mutation Description C206X
Affected Codon# 206
Affected NT# 618
Nucleotide Mutation TSC2 Mutant (C206X), Myc-DDK-tagged ORF clone of Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1 as transfection-ready DNA
Effect Tuberous slerosis
Synonyms LAM; PPP1R160; TSC4
Vector pCMV6-Entry
Tag Myc-DDK
ACCN NM_000548
ORF Size 615 bp
Sequence Data
>RC402316 representing NM_000548
Red=Cloning site Blue=ORF Green=Tags(s)

TTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCC
GCCGCGATCGCC

ATGGCCAAACCAACAAGCAAAGATTCAGGCTTGAAGGAGAAGTTTAAGATTCTGTTGGGACTGGGAACAC
CGAGGCCAAATCCCAGGTCTGCAGAGGGTAAACAGACGGAGTTTATCATCACCGCGGAAATACTGAGAGA
ACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACC
AAGAAATTTGAAGAGCACGCAGTGGAAGCACTCTGGAAGGCGGTCGCGGATCTGTTGCAGCCGGAGCGGC
CGCTGGAGGCCCGGCACGCGGTGCTGGCTCTGCTGAAGGCCATCGTGCAGGGGCAGGGCGAGCGTTTGGG
GGTCCTCAGAGCCCTCTTCTTTAAGGTCATCAAGGATTACCCTTCCAACGAAGACCTTCACGAAAGGCTG
GAGGTTTTCAAGGCCCTCACAGACAATGGGAGACACATCACCTACTTGGAGGAAGAGCTGGCTGACTTTG
TCCTGCAGTGGATGGATGTTGGCTTGTCCTCGGAATTCCTTCTGGTGCTGGTGAACTTGGTCAAATTCAA
TAGCTGTTACCTCGACGAGTACATCGCAAGGATGGTTCAGATGATCTGTCTGCTG


AGCGGACCGACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCC
TGGATTACAAGGATGACGACGA TAAG
GTTTAA
>RC402316 representing NM_000548
Red=Cloning site Green=Tags(s)

MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKT
KKFEEHAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERL
EVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLL

SGPTRTRRLEQKLISEEDLAANDILDYKDDDDKV
Restriction Sites SgfI-XhoI      Cloning Scheme for this gene     
OTI Disclaimer 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_000539
RefSeq Size 615 bp
RefSeq ORF 5424 bp
Locus ID 7249
Domains Rap_GAP, Tuberin
Protein Families Druggable Genome
Protein Pathways Insulin signaling pathway, mTOR signaling pathway, p53 signaling pathway
MW 22.6 kDa
Gene Summary Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
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