PrimePCR™ Probe Assay: GNAS, Human

RT

Real-time PCR probe assay designed for gene expression analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

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Assay Information

Technology:   qPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   qHsaCIP0028974
Assay Design:   Intron-spanning
Chromosome Location:   20:57478773-57480527question
Amplicon Length:   134
Splice Variants Targeted:   ENST00000313949 ENST00000371075 ENST00000419558 ENST00000371100 ENST00000371102 ENST00000450130 ENST00000349036 ENST00000371095 ENST00000371085 ENST00000354359 ENST00000265620 ENST00000306090

Gene Information

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 contains 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 Mar 2009]

Gene Symbol:   GNAS
Gene Name:   GNAS complex locus
Aliases:   AHO, C20orf45, GNAS1, GPSA, GSA, GSP, MGC33735, NESP, PHP1A, PHP1B, PHP1C, POH
RefSeq:   NC_000020.10 NT_011362.10 NG_016194.1 NG_021433.1
Ensembl:   ENSG00000087460
Entrez:   2778
Chromosome Mapping:   20q13.3

The below validation information is for the Primer Pair only   Download Validation Data (.pdf)


Products used to generate validation data:

Real-Time PCR Instrument CFX384 Real-Time PCR Detection System
Reverse Transcription Reagent iScript™ Advanced cDNA Synthesis Kit for RT-qPCR
Real-Time PCR Supermix SsoAdvanced™ SYBR® Green Supermix
Experimental Sample qPCR Human Reference Total RNA

Summary Data:

R2 0.999900
y-intercept 35.480000
Efficiency 97

Amplification Plot
Amplification of cDNA generated from universal RNA.

Amplification of cDNA generated from universal RNA.

Melt Peak
Melt curve analysis of above amplification.

Melt curve analysis of above amplification.

Standard Curve
Standard curve generated using 20 million copies of template diluted 10 fold to 20 copies.

Standard curve generated using 20 million copies of template diluted 10 fold to 20 copies.

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