ORMDL3 Gene
protein-coding GIFtS: 53
GCID: GC17M038077
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ORM1-like 3 (S. cerevisiae)(Previous name: ORM1 (S. cerevisiae)-like 3 )
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Aliases for ORMDL3 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| ORM1-Like 3 (S. Cerevisiae)1 2 | | ORM1 (S. Cerevisiae)-Like 31 | | ORM1-Like Protein 32 |
Export aliases for ORMDL3 gene to outside databasesPrevious GC identifers: GC17P037421 GC17U900023 GC17M037987 GC17M038452 GC17M035330 GC17M033871 |
Summaries for ORMDL3 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| UniProtKB/Swiss-Prot: ORML3_HUMAN, Q8N138Function: Negative regulator of sphingolipid synthesis. May indirectly regulate endoplasmic reticulum-mediated Ca(+2)signaling
|
Genomic Views for ORMDL3 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000017.10 NC_018928.1 NT_010783.15
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the ORMDL3 gene promoter: COUP-TF1 C/EBPbeta COUP HNF-4alpha2 AP-4 LCR-F1 HNF-4alpha1 c-Ets-1 COUP-TF HOXA5 Other transcription factors
Search SABiosciences Chromatin IP Primers for ORMDL3
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ORMDL3 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17q12 Ensembl cytogenetic band: 17q12 HGNC cytogenetic band: 17q12ORMDL3 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17M038077: view genomic region
(about GC identifiers)
Start:
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38,077,294 bp from pter |
End:
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38,083,854 bp from pter |
Size:
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6,561 bases |
Orientation:
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minus strand |
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Proteins for ORMDL3 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: ORML3_HUMAN, Q8N138 (See
protein sequence)Recommended Name: ORM1-like protein 3 Size: 153 amino acids; 17495 Da
Subunit: Interacts with SPTLC1
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Miscellaneous: SNPs on 17q21 locus that are associated with childhood asthma also show a consistent and strongassociation with transcript levels of ORMDL3, indicating that genetic variants regulating ORMDL3 expression aredeterminants of susceptibility to childhood asthma
Secondary accessions: B3KS83 Q6UY83Alternative splicing: 2 isoforms: Q8N138-1 Q8N138-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for ORMDL3: NX_Q8N138
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8N138 ORMDL3 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_644809.1 ENSEMBL proteins: ENSP00000304858 ENSP00000464693 ENSP00000462961 ENSP00000377724 ENSP00000464455 ENSP00000464298 Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
ORMDL3 for ontologies About GeneDecksing
ORMDL3 Antibody Products: Assay Products for ORMDL3: |
Protein
Domains / Families for ORMDL3 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ORMDL3 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q8N138ProtoNet protein and cluster: Q8N138 1 Blocks protein family: IPB007203 ORMDL
UniProtKB/Swiss-Prot: ORML3_HUMAN, Q8N138Similarity: Belongs to the ORM family |
Function for ORMDL3 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: ORML3_HUMAN, Q8N138Function: Negative regulator of sphingolipid synthesis. May indirectly regulate endoplasmic reticulum-mediated Ca(+2)signaling
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ORMDL3 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ORMDL3 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: ORMDL3 (NM_139280) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ORMDL3 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ORMDL3  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ORMDL3 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005515 | protein binding |
IPI | -- |
ORMDL3 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for ORMDL3:
|
Pathways & Interactions for ORMDL3 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ORMDL3
STRING Interaction
Network Preview (showing 5 interactants - click image to see 8)
 5/12 Interacting proteins for ORMDL3 (Q8N1382, 3 ENSP000003048584) via UniProtKB, MINT, STRING, and/or I2D (see all 12)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006672 | ceramide metabolic process |
IMP | -- |
ORMDL3 for ontologies About GeneDecksing
|
Drugs & Compounds for ORMDL3 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for ORMDL3 Search CenterWatch for drugs/clinical trials and news about ORMDL3 / ORML3 
|
Transcripts for ORMDL3 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for ORMDL3 gene: NM_139280.2 Unigene Cluster for ORMDL3: ORM1-like 3 (S. cerevisiae) Hs.514151 [show with all ESTs]Unigene Representative Sequence: AK0930638 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000304046(uc002htj.2) ENST00000579695(uc002htk.2) ENST00000579287 ENST00000581284 ENST00000394169(uc002hti.1) ENST00000584220 ENST00000584000 ENST00000582052
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ORMDL3 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ORMDL3 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: ORMDL3 (NM_139280) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ORMDL3 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ORMDL3  |
Additional cDNA sequence: AF151043.1 AF373101.1 AF373102.1 AF395708.1 AJ308027.1 AK074811.1 AK075212.1 AK093063.1 AY357943.1 BC000638.1 BC017087.1 BC018837.1 BC050710.1 BC054042.1 BC071833.1 6 DOTS entries: DT.75123827 DT.99960637 DT.101983962 DT.120892836 DT.40230348 DT.95172328 24/324 AceView cDNA sequences (see all 324): CF264690 AX775843 BE073479 AF119884 AW961240 AF258572 BP872262 C02557 BG831510 CF264907 BX479594 NM_018530 BM712955 BC017087 AW089705 AW074190 BX538068 BC071833 BQ008854 AF395708 AW973329 AW591603 AX747896 AK093063 GeneLoc Exon Structure
5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ORMDL3 (see all 7) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d | · | 8e | · | 8f | ^ | 9 | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | - |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | - |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | - |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for ORMDL3
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Expression for ORMDL3 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ORMDL3 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: TTTCTGTTAA
About this image See ORMDL3 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for ORMDL3
SOURCE GeneReport for Unigene cluster: Hs.514151 UniProtKB/Swiss-Prot: ORML3_HUMAN, Q8N138Tissue specificity: Widely expressed. Expressed in adult and fetal heart, brain, lung, liver, skeletal muscle andkidney. Expressed in adult pancreas and placenta and in fetal spleen abd thymus SABiosciences Custom PCR Arrays for ORMDL3
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ORMDL3 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ORMDL3 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ORMDL3 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ORMDL3 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ORMDL3 |
Orthologs for ORMDL3 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for ORMDL3 gene from 6/25 species (see all 25) About this table
ENSEMBL Gene Tree for ORMDL3 (if available) TreeFam Gene Tree for ORMDL3 (if available)  |
Paralogs for ORMDL3 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for ORMDL3 gene
- ORMDL12 ORMDL22
2 SIMAP similar genes for ORMDL3 using alignment to 4 protein entries: ORML3_HUMAN (see all proteins):ORMDL1 ORMDL2
ORMDL3 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for ORMDL3 PGOHUM00000238349
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Genomic Variants for ORMDL3 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 17 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
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HapMap Linkage Disequilibrium report for ORMDL3 (38077294 - 38083854 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for ORMDL3: -- Human Gene Mutation Database (HGMD): ORMDL3
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ORMDL3 |
|
Disorders
/ Diseases for ORMDL3 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ORMDL3 for disorders About GeneDecksing
OMIM gene information: 610075
OMIM disorders: --
UniProtKB/Swiss-Prot: ORML3_HUMAN, Q8N138
Genetic variations in ORMDL3 are associated with susceptibility to asthma (ASTHMA) [MIM:600807]. The mostcommon chronic disease affecting children and young adults. It is a complex genetic disorder with a heterogeneousphenotype, largely attributed to the interactions among many genes and between these genes and the environment. It ischaracterized by recurrent attacks of paroxysmal dyspnea, with weezing due to spasmodic contraction of the bronchi 8 diseases for ORMDL3: About MalaCardsprimary biliary cirrhosis ankylosing spondylitis spondylitis atopy crohn's disease rabies asthma obesity 1 disease from the University of Copenhagen DISEASES database for ORMDL3:Asthma Human Genome Epidemiology (HuGE) Navigator: ORMDL3 (18 documents) Export disorders for ORMDL3 gene to outside databases
|
Publications for ORMDL3 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ORMDL3 gene, integrated from 9 sources (see all 50): (articles sorted by number of sources associating them with ORMDL3) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Genetic variation in ORM1-like 3 (ORMDL3) and gasdermin-like (GSDML) and childhood asthma. (PubMed id 19133921)1, 2, 9 Wu H....London S.J. (2009)
- Orm family proteins mediate sphingolipid homeostasis. (PubMed id 20182505)1, 2 Breslow D.K....Weissman J.S. (2010)
- The asthma-associated ORMDL3 gene product regulates e ndoplasmic reticulum-mediated calcium signaling and cellular stress. (PubMed id 19819884)1, 2 Cantero-Recasens G....Vicente R. (2010)
- A polymorphism controlling ORMDL3 expression is associated with asthma that is poorly controlled by current medications. (PubMed id 18395550)1, 2 Tavendale R....Palmer C.N. (2008)
- ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry. (PubMed id 18760456)1, 2 Sleiman P.M....Hakonarson H. (2008)
- Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. (PubMed id 17611496)1, 2 Moffatt M.F....Cookson W.O. (2007)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins. (PubMed id 12093374)1, 2 Hjelmqvist L....Gonzalez-Duarte R. (2002)
- ORMDL3 is an inducible lung epithelial gene regulating metalloproteases, chemokines, OAS, and ATF6. (PubMed id 23011799)1 Miller M....Broide D.H. (2012)
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External Searches for ORMDL3 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing ORMDL3 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ORMDL3 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ORMDL3 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for ORMDL3 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for ORMDL3 gene: Search GeneIP for patents involving ORMDL3
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for ORMDL3 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
|
 | |
 | |
 |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ORMDL3 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ORMDL3 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ORMDL3 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ORMDL3 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ORMDL3 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ORMDL3 |
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| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ORMDL3 |
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