AMHR2 (NM_020547) Human Mutant ORF Clone

Specifications

Product Data
Product Name	AMHR2 (NM_020547) Human Mutant ORF Clone
Mutation Description	R80X
Affected Codon#	80
Affected NT#	238
Nucleotide Mutation	AMHR2 Mutant (R80X), Myc-DDK-tagged ORF clone of Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1 as transfection-ready DNA
Effect	Persisen Mullerin dus syndrome
Synonyms	AMHR; MISR2; MISRII; MRII
Vector	pCMV6-Entry
Tag	Myc-DDK
ACCN	NM_020547
ORF Size	237 bp
Sequence Data	ORF Nucleotide Sequence (showhide) >RC403210 representing NM_020547 Red=Cloning site Blue=ORF Green=Tags(s) TTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCC GCCGCGATCGCC ATGCTAGGGTCTTTGGGGCTTTGGGCATTACTTCCCACAGCTGTGGAAGCACCCCCAAACAGGCGAACCT GTGTGTTCTTTGAGGCCCCTGGAGTGCGGGGAAGCACAAAGACACTGGGAGAGCTGCTAGATACAGGCAC AGAGCTCCCCAGAGCTATCCGCTGCCTCTACAGCCGCTGCTGCTTTGGGATCTGGAACCTGACCCAAGAC CGGGCACAGGTGGAAATGCAAGGATGC AGCGGACCGACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCC TGGATTACAAGGATGACGACGA TAAGGTTTAA Protein Sequence (showhide) >RC403210 representing NM_020547 Red=Cloning site Green=Tags(s) MLGSLGLWALLPTAVEAPPNRRTCVFFEAPGVRGSTKTLGELLDTGTELPRAIRCLYSRCCFGIWNLTQD RAQVEMQGC SGPTRTRRLEQKLISEEDLAANDILDYKDDDDKV
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_065434
RefSeq Size	237 bp
RefSeq ORF	1722 bp
Locus ID	269
Protein Families	Druggable Genome, Protein Kinase, Transmembrane
Protein Pathways	Cytokine-cytokine receptor interaction, TGF-beta signaling pathway
MW	8.7 kDa
Gene Summary	This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2009]

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