RHBDL1 Gene
protein-coding GIFtS : 51
GCID: GC16 P000725
rhomboid, veinlet-like 1 (Drosophila) (Previous names: rhomboid (veinlet, Drosophila)-like ) (Previous symbol: RHBDL )
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Aliasesfor RHBDL1 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Rhomboid, Veinlet-Like 1 (Drosophila) 1 2 EC 3.4.21.1053 8 RHBDL1 2 3 5 Rhomboid (Veinlet, Drosophila)-Like1 RRP1 2 3 5 Rhomboid, Drosophila, Homolog Of2 Rhomboid-Like Protein 12 3 Rhomboid-Related Protein 12
Export aliases for RHBDL1 gene to outside databases Previous GC identifers: GC16P000665 GC16P000666 GC16P000650
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Summariesfor RHBDL1 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: RHBL1_HUMAN, O75783 Function : May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptidesfrom their membrane anchors (By similarity)
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Genomic Viewsfor RHBDL1 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_000016.9 NC_018927.1 NT_010393.16 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the RHBDL1 gene promoter: Sp1 p53 C/EBPalpha Other transcription factors Search SABiosciences Chromatin IP Primers for RHBDL1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat RHBDL1
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 16p13.3 Ensembl cytogenetic band: 16p13.3 HGNC cytogenetic band: 16p13.3 RHBDL1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 16 GeneLoc Exon Structure
GeneLoc location for GC16P000725: view genomic region
(about GC identifiers )
Start:
725,666 bp from pter
End:
728,268 bp from pter
Size:
2,603 bases
Orientation:
plus strand
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Proteinsfor RHBDL1 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
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: RHBL1_HUMAN, O75783 (See
protein sequence )Recommended Name: Rhomboid-related protein 1 Size : 438 amino acids; 48314 Da
Subcellular location : Membrane; Multi-pass membrane protein
Secondary accessions : A2IDC0 A2IDC1 Q0VAX4 Q9NQ85Alternative splicing : 2 isoforms : O75783-1 O75783-2 Explore the universe of human proteins at neXtProt for RHBDL1: NX_O75783 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_O75783 2 DME Specific Peptides for RHBDL1 (O75783 ) RHBDL1 Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins: NP_003952.1 ENSEMBL proteins: ENSP00000344206 ENSP00000455608 ENSP00000219551 Human Recombinant Protein Products for RHBDL1: Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view) : About this table
RHBDL1 for ontologies About GeneDecksing RHBDL1 Antibody Products: Assay Products for RHBDL1:
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Protein
Domains / Familiesfor RHBDL1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
RHBDL1 for domains About GeneDecksing 4 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry O75783 ProtoNet protein and cluster: O75783
1 Blocks protein family : IPB002610 Rhomboid-like protein UniProtKB/Swiss-Prot: RHBL1_HUMAN, O75783 Similarity : Belongs to the peptidase S54 family
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Functionfor RHBDL1 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory ,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase ,
shRNA from
OriGene ,
Sirion Biotech ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Sirion Biotech ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
Sirion Biotech ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Molecular Function: UniProtKB/Swiss-Prot Summary: RHBL1_HUMAN, O75783 Function : May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptidesfrom their membrane anchors (By similarity) Catalytic activity : Cleaves type-1 transmembrane domains using a catalytic dyad composed of serine and histidine thatare contributed by different transmembrane domains Enzyme Number (IUBMB): EC 3.4.21.105 1 2
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0004252 serine-type endopeptidase activity
IEA -- GO:0005509 calcium ion binding
IEA --
RHBDL1 for ontologies About GeneDecksing Phenotypes: 1 GenomeRNAi human phenotype for RHBDL1 :Animal Models: 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 RHBDL1 (see all 2 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for RHBDL1OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: RHBDL1 (NM_003961 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RHBDL1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat RHBDL1
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHBDL1
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Pathways & Interactionsfor RHBDL1 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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RHBDL1 STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)1 Interacting protein for RHBDL1 (ENSP00000219551 4 ) via UniProtKB, MINT, STRING , and/or I2D About this table Gene Ontology (GO): 2 biological process terms (GO ID links to tree view) : About this table
RHBDL1 for ontologies About GeneDecksing
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Drugs & Compoundsfor RHBDL1 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 RHBDL1 Search CenterWatch for drugs/clinical trials and news about RHBDL1 / RHBL1
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Transcriptsfor RHBDL1 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 ,
Sirion Biotech ,
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 RHBDL1 gene: NM_003961.1 Unigene Cluster for RHBDL1:
Rhomboid, veinlet-like 1 (Drosophila) Hs.137572 [show with all ESTs ] Unigene Representative Sequence: AK294136 4 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000352681 (uc002cir.1 ) ENST00000561556 ENST00000450775 (uc010uun.1 )ENST00000219551 (uc002cis.1 ) Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for RHBDL1 (see all 2 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for RHBDL1OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: RHBDL1 (NM_003961 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RHBDL1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat RHBDL1
Additional cDNA sequence: AJ272344.1 AK294136.1 BC120874.2 BC120875.2 Y17108.1
3 DOTS entries : DT.75120768 DT.75159107
DT.95265383 17 AceView cDNA sequences :
BX109654 Y17108 BI822562 NM_003961 BM719830 AJ272344 BM717565 BI667844 BI545043 BI544995 BI600093 BQ067866 AI343266 BQ188710 AI652564 AI961823 AW166279 GeneLoc Exon Structure 4 Alternative Splicing Database (ASD) splice patterns (SP) for RHBDL1 About this scheme ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b SP1 :   -                 -       SP2 :   -     -             -       SP3 :                   -       SP4 :                        
ECgene alternative splicing isoforms for RHBDL1
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Expression for RHBDL1 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 RHBDL1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: TGGTGGCCGCAbout this image RHBDL1 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table
1 LifeMap In Vivo Development Anatomical Compartment/Cell Tissue Anatomical Compartment
Cell Category (developmental path) Neural Tube Telencephalon Neural Tube Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
See RHBDL1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for RHBDL1 SOURCE GeneReport for Unigene cluster: Hs.137572 UniProtKB/Swiss-Prot: RHBL1_HUMAN, O75783 Tissue specificity : Detected in heart, brain, skeletal muscle and kidney SABiosciences Custom PCR Arrays for RHBDL1 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for RHBDL1Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat RHBDL1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat RHBDL1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat RHBDL1 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHBDL1
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Orthologsfor RHBDL1 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for RHBDL1 gene from 6/16 species (see all 16 ) About this table
ENSEMBL Gene Tree for RHBDL1 (if available)TreeFam Gene Tree for RHBDL1 (if available)
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Paralogsfor RHBDL1 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for RHBDL1 gene RHBDL2 2 RHBDL3 2 2 SIMAP similar genes for RHBDL1 using alignment to 3 protein entries: RHBL1_HUMAN (see all proteins ):RHBDL3 RHBDL2
RHBDL1 for paralogs About GeneDecksing
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Genomic Variantsfor RHBDL1 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
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 16 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for RHBDL1 (725666 - 728268 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 9 variations for RHBDL1 9 CNVs : 49727 29986 49728 3987 29982 5329 30732 29983 29985
SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing RHBDL1
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Disorders
/ Diseasesfor RHBDL1 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
RHBDL1 for disorders About GeneDecksing
OMIM gene information: 603264
OMIM disorders : --2 diseases for RHBDL1 : About MalaCards leber hereditary optic neuropathy neuropathy 1 disease from the University of Copenhagen DISEASES database for RHBDL1 :Leber hereditary optic neuropathy Export disorders for RHBDL1 gene to outside databases
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Publicationsfor RHBDL1 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for RHBDL1 gene integrated from 9 sources : (articles sorted by number of sources associating them with RHBDL1) Utopia : connect your pdf to the dynamic world of online information
Characterization of a mammalian cDNA encoding a protein with high sequence similarity to the Drosophila regulatory protein Rhomboid. (PubMed id 9662444) 1 , 2 , 3, 9 Pascall J.C. and Brown K.D. (1998) 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) Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PubMed id 11157797) 1 , 2 Daniels R.J....Higgs D.R. (2001) The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553) 2 Martin J.... Pennacchio L.A. (2004) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932) 1 Strausberg R.L....Marra M.A. (2002)
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External Searches for RHBDL1 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing RHBDL1 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing RHBDL1 gene
(According to HUGE )
About This Section --
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Specialized Databases showing RHBDL1 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 RHBDL1 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for RHBDL1 gene: Search GeneIP for patents involving RHBDL1 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor RHBDL1 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 and Sirion Biotech , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript , LifeMap BioReagents , and Sirion Biotech , 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 , Animal models from inGenious Targeting Laboratory )About This Section
Browse OriGene Antibodies OriGene shRNA RFP for RHBDL1 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for RHBDL1 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for RHBDL1 OriGene Protein Over-expression Lysate for RHBDL1 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for RHBDL1 OriGene 3'-UTR Clone for RHBDL1 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for RHBDL1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for RHBDL1 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat RHBDL1 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing RHBDL1 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat RHBDL1 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat RHBDL1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat RHBDL1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat RHBDL1
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RHBDL1 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHBDL1
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Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat RHBDL1
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