EPYC Gene
protein-coding GIFtS : 49
GCID: GC12 M091357
epiphycan (Previous names: dermatan sulphate proteoglycan 3, dermatan sulfate proteoglycan... ) (Previous symbol: DSPG3 )
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Aliasesfor EPYC 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 Epiphycan 1 PGLB2 3 DSPG31 2 3 5 Dermatan Sulphate Proteoglycan 31 Dermatan Sulfate Proteoglycan 31 2 3 Epiphycan Proteoglycan2 SLRR3B1 2 3 Proteoglycan-Lb3 Pg-Lb1 2 PG-Lb3 Small Chondroitin/Dermatan Sulfate Proteoglycan2 3 Proteoglycan-Lb3
Export aliases for EPYC gene to outside databases Previous GC identifers: GC12M089881 GC12M088425
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Summariesfor EPYC gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for EPYC : Dermatan sulfate proteoglycan 3 is a member of the small leucine-rich repeat proteoglycan family. This gene is composed of seven exons. It regulates fibrillogenesis by interacting with collagen fibrils and other extracellular matrix proteins. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: EPYC_HUMAN, Q99645 Function : May have a role in bone formation and also in establishing the ordered structure of cartilage through matrixorganization
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Genomic Viewsfor EPYC 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_000012.11 NC_018923.1 NT_029419.12 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the EPYC gene promoter: Nkx3-1 TBP Nkx3-1 v4 Nkx3-1 v1 CUTL1 Nkx3-1 v2 SRY S8 HFH-1 Nkx3-1 v3 Other transcription factors Search SABiosciences Chromatin IP Primers for EPYC Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EPYC
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 12q21 Ensembl cytogenetic band: 12q21.33 HGNC cytogenetic band: 12q21 EPYC Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 12 GeneLoc Exon Structure
GeneLoc location for GC12M091357: view genomic region
(about GC identifiers )
Start:
91,357,456 bp from pter
End:
91,398,803 bp from pter
Size:
41,348 bases
Orientation:
minus strand
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Proteinsfor EPYC 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: EPYC_HUMAN, Q99645 (See
protein sequence )Recommended Name: Epiphycan precursor Size : 322 amino acids; 36637 Da
Subcellular location : Secreted, extracellular space, extracellular matrix (By similarity)
Secondary accessions : A8K3M7 Q8NEJ5Explore the universe of human proteins at neXtProt for EPYC: NX_Q99645 Post-translational modifications:
The O-linked polysaccharides on Thr-60 and Ser-96 are probably the mucin type linked to GalNAc. There is one glycosaminoglycan chain, known to be dermatan sulfate, and it is probably the O-glycosylation at Ser-64 (By similarity)1
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q99645 EPYC Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_004941.2 ENSEMBL proteins: ENSP00000261172 ENSP00000448272 Human Recombinant Protein Products: Gene Ontology (GO): 1 cellular component term (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0005578 proteinaceous extracellular matrix
IEA --
EPYC for ontologies About GeneDecksing EPYC Antibody Products: Assay Products for EPYC:
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Protein
Domains / Familiesfor EPYC gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
EPYC for domains About GeneDecksing 3 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry Q99645 ProtoNet protein and cluster: Q99645
1 Blocks protein family : IPB000372 Cysteine-rich flanking region UniProtKB/Swiss-Prot: EPYC_HUMAN, Q99645 Similarity : Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class III subfamilySimilarity : Contains 6 LRR (leucine-rich) repeatsSimilarity : Contains 1 LRRNT domain
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Functionfor EPYC gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
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: EPYC_HUMAN, Q99645 Function : May have a role in bone formation and also in establishing the ordered structure of cartilage through matrixorganization
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 EPYC (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for EPYC (see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: EPYC (NM_004950 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for EPYC Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat EPYC
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPYC
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:0005539 glycosaminoglycan binding
TAS 8975717
EPYC for ontologies About GeneDecksing
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Pathways & Interactionsfor EPYC 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: Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for EPYC Gene Ontology (GO): 1 biological process term (GO ID links to tree view) : About this table
EPYC for ontologies About GeneDecksing
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Drugs & Compoundsfor EPYC 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 EPYC Search CenterWatch for drugs/clinical trials and news about EPYC
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Transcriptsfor EPYC 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 EPYC gene: NM_004950.4 Unigene Cluster for EPYC:
Epiphycan Hs.435680 [show with all ESTs ] Unigene Representative Sequence: BC030958 3 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000261172 (uc001tbk.3 ) ENST00000551767 ENST00000550203 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for EPYC (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for EPYC (see first 1 )NM_004950 (human cat#: SC321109 ) NM_004950 (human cat#: SC117046 ) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: EPYC (NM_004950 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for EPYC Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat EPYC
Additional cDNA sequence: AK290642.1 BC030958.1 U59111.1
2 DOTS entries : DT.409206 DT.75119242
24/43 AceView cDNA sequences (see all 43 ):
AU099648 AU118100 AA456742 AU118612 BQ006809 AI276878 BQ015670 BX365045 AU117240 AU119962 CR598976 CR612682 BX343971 BQ007792 CA412703 U59111 BX343970 AI128100 CB215626 BC030958 BQ002814 BF062835 AI376440 AU116867 GeneLoc Exon Structure 2 Alternative Splicing Database (ASD) splice patterns (SP) for EPYC About this scheme ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 SP1 :                 SP2 :                
ECgene alternative splicing isoforms for EPYC
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Expression for EPYC 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 EPYC expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: AAAAAAAGAA
About this image EPYC expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See EPYC Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for EPYC SOURCE GeneReport for Unigene cluster: Hs.435680 UniProtKB/Swiss-Prot: EPYC_HUMAN, Q99645 Tissue specificity : Cartilage, ligament, and placenta SABiosciences Custom PCR Arrays for EPYC Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for EPYCBrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat EPYC QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat EPYC QIAGEN QuantiFast Probe-based Assays in human , mouse , rat EPYC In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPYC
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Orthologsfor EPYC 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 chordates.
Orthologs for EPYC gene from 4/14 species (see all 14 ) About this table
ENSEMBL Gene Tree for EPYC (if available)TreeFam Gene Tree for EPYC (if available)
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Paralogsfor EPYC gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for EPYC gene OGN 2 OPTC 2 PODN 2 PODNL1 2 FMOD 2 PRELP 2 KERA 2 ASPN 2 OMD 2 BGN 2 DCN 2 ECM2 2 LUM 2 2 SIMAP similar genes for EPYC using alignment to 2 protein entries: EPYC_HUMAN (see all proteins ):OGN OPTC
EPYC for paralogs About GeneDecksing
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Genomic Variantsfor EPYC 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 12 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for EPYC (91357456 - 91398803 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for EPYC: --
SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing EPYC
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Disorders
/ Diseasesfor EPYC 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
EPYC for disorders About GeneDecksing
OMIM gene information: 601657
OMIM disorders : --3 diseases for EPYC : About MalaCards corneal dystrophy gastroenteritis myopia 1 disease from the University of Copenhagen DISEASES database for EPYC :Myopia Human Genome Epidemiology (HuGE) Navigator: EPYC (3 documents) Export disorders for EPYC gene to outside databases
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Publicationsfor EPYC 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 EPYC gene, integrated from 9 sources (see all 11 ): (articles sorted by number of sources associating them with EPYC) Utopia : connect your pdf to the dynamic world of online information
Characterization of human DSPG3, a small dermatan sulfate proteoglycan. (PubMed id 8975717) 1 , 2 , 3 Deere M.... Hecht J.T. (1996) 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) Linkage of posterior amorphous corneal dystrophy to c hromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC. (PubMed id 20357198) 1 Aldave A.J....Gorin M.B. (2010) An evaluation of OPTC and EPYC as candidate genes for high myopia. (PubMed id 19844586) 1 Wang P....Zhang Q. (2009) The association of haplotype at the lumican gene with high myopia susceptibility in Taiwanese patients. (PubMed id 19616852) 1 Chen Z.T....Lin L.L. (2009) Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2. (PubMed id 17558846) 1 Aldave A.J....Yellore V.S. (2007) The association of single nucleotide polymorphisms in the 5'-regulatory region of the lumican gene with susceptibility to high myopia in Taiwan. (PubMed id 16902402) 1 Wang I.J....Lin L.L. (2006) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 2 Ota T.... Sugano S. (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) Genomic characterization of human DSPG3. (PubMed id 10330124) 1 Deere M....Hecht J.T. (1999)
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External Searches for EPYC gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing EPYC 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 EPYC gene
(According to HUGE )
About This Section --
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Specialized Databases showing EPYC 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 EPYC Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for EPYC gene: Search GeneIP for patents involving EPYC GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor EPYC 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
Browse OriGene Antibodies OriGene shRNA RFP for EPYC OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for EPYC OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for EPYC OriGene Protein Over-expression Lysate for EPYC Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for EPYC OriGene 3'-UTR Clone for EPYC OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for EPYC OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for EPYC 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 OriGene Purified Protein for EPYC OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for EPYC OriGene Custom Protein Services for EPYC OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat EPYC QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing EPYC QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EPYC QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat EPYC QIAGEN QuantiFast Probe-based Assays in human , mouse , rat EPYC QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat EPYC
Search Tocris compounds for EPYC
EPYC Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPYC
Search ThermoFisher Antibodies for EPYC
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat EPYC
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Aliases for EPYC
Databases for EPYC
Disorders / Diseases for EPYC
Domains / Families for EPYC
Drugs / Compounds for EPYC
Expression for EPYC
Function for EPYC
Genomic Views for EPYC
Intellectual Property for EPYC
Orthologs for EPYC
Paralogs for EPYC
Pathways / Interactions for EPYC
Products for EPYC
Proteins for EPYC
Publications for EPYC
Search Box for EPYC
Summaries for EPYC
Transcripts for EPYC
Variants for EPYC
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