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Home cDNA Clone TrueORF All GNAS ORF Clones

GNAS (NM_000516) Human Mutant ORF Clone

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Cat. No. Description Price Availability  
RC402281 GNAS Mutant (F246S), Myc-DDK-tagged ORF clone of Homo sapiens GNAS complex locus (GNAS), transcript variant 1 as transfection-ready DNA, 10µg
$590
1-2 weeks
TA50011-100 4C5, Anti-DDK monoclonal antibody, 100µl $248 In Stock
Clone Modification
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TrueORF Data for RC402281
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Vector: pCMV6-Entry   Change vector? Tag: C-terminal Myc-DDK
Sequence Data: ORF Nucleotide Sequence
Protein Sequence
ORF Size: 1182 bp
Predicted Protein MW: 43.3 kDa
Restriction Sites: SgfI-NotI     Cloning Scheme for this gene     Plasmid Map
OTI Annotation:
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
Product Components: The ORF clone is ion-exchange column purified, transfection-ready dried plasmid DNA, and shipped with 2 vector sequencing primers.
Protein Families: Secreted ProteinDruggable Genome
Protein Pathways: Calcium signaling pathwayVascular smooth muscle contractionGap junctionLong-term depressionTaste transductionGnRH signaling pathwayMore Pathways >>

Reference Data
RefSeq: , NP_000507
RefSeq Size: 1182 RefSeq ORF: 1185
Synonyms : AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP; PHP1A; PHP1B; PHP1C; POH; SgVI
LocusID: 2778 Cytogenetic: 20q13.3 Domains: G-alpha
Summary: This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012].

 

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