RET (NM_020975) Human Mutant ORF Clone

Specifications

Product Data
Product Name	RET (NM_020975) Human Mutant ORF Clone
Mutation Description	E632_L633del
Affected Codon#	632
Affected NT#	c.1894_1899
Nucleotide Mutation	RET Mutant (E632_L633del), Myc-DDK-tagged ORF clone of Homo sapiens ret proto-oncogene (RET), transcript variant 2 as transfection-ready DNA
Effect	deletion
Synonyms	CDHF12; CDHR16; HSCR1; MEN2A; MEN2B; MTC1; PTC; RET-ELE1
Vector	pCMV6-Entry
Tag	Myc-DDK
ACCN	NM_020975
ORF Size	3336 bp
Restriction Sites	SgfI-MluI      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_066124
RefSeq Size	5629 bp
RefSeq ORF	3345 bp
Locus ID	5979
Protein Families	Druggable Genome, Protein Kinase, Transmembrane
Protein Pathways	Endocytosis, Pathways in cancer, Thyroid cancer
MW	124 kDa
Gene Summary	This gene encodes a transmembrane receptor and member of the tyrosine protein kinase family of proteins. Binding of ligands such as GDNF (glial cell-line derived neurotrophic factor) and other related proteins to the encoded receptor stimulates receptor dimerization and activation of downstream signaling pathways that play a role in cell differentiation, growth, migration and survival. The encoded receptor is important in development of the nervous system, and the development of organs and tissues derived from the neural crest. This proto-oncogene can undergo oncogenic activation through both cytogenetic rearrangement and activating point mutations. Mutations in this gene are associated with Hirschsprung disease and central hypoventilation syndrome and have been identified in patients with renal agenesis. [provided by RefSeq, Sep 2017]

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