HCN1 Gene
protein-coding GIFtS: 60
GCID: GC05M045260
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hyperpolarization activated cyclic nucleotide-gated potassium... (Previous symbol: BCNG1)
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Aliases for HCN1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Hyperpolarization Activated Cyclic Nucleotide-Gated Potassium Channel 11 2 | | Brain Cyclic Nucleotide-Gated Channel 12 3 | | BCNG-11 2 3 | | Brain Cyclic Nucleotide Gated Channel 12 | | BCNG11 2 3 | | Potassium/Sodium Hyperpolarization-Activated Cyclic Nucleotide-Gated Channel 12 | | HAC-21 2 | | |
Export aliases for HCN1 gene to outside databasesPrevious GC identifers: GC05U990009 GC05M046438 GC05M045262 GC05M045307 GC05M045297 |
Summaries for HCN1 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 HCN1: The membrane protein encoded by this gene is a hyperpolarization-activated cation channel that contributes to thenative pacemaker currents in heart and neurons. The encoded protein can homodimerize or heterodimerize with otherpore-forming subunits to form a potassium channel. This channel may act as a receptor for sour tastes. (provided byRefSeq, Oct 2011) UniProtKB/Swiss-Prot: HCN1_HUMAN, O60741Function: Hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions.Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). Activated by cAMP, and at 10-100 timeshigher concentrations, also by cGMP. May mediate responses to sour stimuli Gene Wiki entry for HCN1
|
Genomic Views for HCN1 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_000005.9 NC_018916.1 NT_006576.16
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the HCN1 gene promoter: STAT1 LHX3b/Lhx3b AML1a Pax-5 STAT1alpha AREB6 FOXO4 STAT3 LHX3a/Lhx3a PPAR-gamma2 Other transcription factors
Search SABiosciences Chromatin IP Primers for HCN1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HCN1 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 5p12 Ensembl cytogenetic band: 5p12 HGNC cytogenetic band: 5p12HCN1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 5 GeneLoc Exon Structure GeneLoc location for GC05M045260: view genomic region
(about GC identifiers)
Start:
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45,259,349 bp from pter |
End:
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45,696,253 bp from pter |
Size:
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436,905 bases |
Orientation:
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minus strand |
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Proteins for HCN1 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: HCN1_HUMAN, O60741 (See
protein sequence)Recommended Name: Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 Size: 890 amino acids; 98796 Da
Subunit: The potassium channel is probably composed of a homo- or heterotetrameric complex of pore-forming subunits.Heteromultimer with HCN2 (By similarity). Interacts with KCNE2 (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein
Sequence caution: Sequence=AAC39759.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-Asequence;Explore the universe of human proteins at neXtProt for HCN1: NX_O60741
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O60741 HCN1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_066550.2 ENSEMBL proteins: ENSP00000307342 Reactome Protein details: O60741 Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
HCN1 for ontologies About GeneDecksing
HCN1 Antibody Products: Assay Products for HCN1: |
Protein
Domains / Families for HCN1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
HCN1 for domains About GeneDecksing
5/7 InterPro domains/families (see all 7):Graphical View of Domain Structure for InterPro Entry O60741ProtoNet protein and cluster: O60741 2 Blocks protein families: IPB000595 Cyclic nucleotide-binding domain IPB013621 Ion transport N-terminal
UniProtKB/Swiss-Prot: HCN1_HUMAN, O60741Domain: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged aminoacids at every third positionSimilarity: Belongs to the potassium channel HCN familySimilarity: Contains 1 cyclic nucleotide-binding domain |
Function for HCN1 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: HCN1_HUMAN, O60741Function: Hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions.Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). Activated by cAMP, and at 10-100 timeshigher concentrations, also by cGMP. May mediate responses to sour stimuli Genatlas biochemistry entry for HCN1:hyperpolarization-activated and cyclic nucleotide gated potassium channel 1,containing a CCG repeat in 5'utr,related toEag and H-erg,expressed in brain,potentially modulating excitability in the brain and responding to regulation bycyclic nucleotides,playing a critical role in shaping the autonomous activity of single neurons and the periodicity ofnetwork oscillations
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 HCN1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HCN1 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: HCN1 (NM_021072) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
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In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HCN1 |
Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table
HCN1 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for HCN1: Animal Models: Mouse knock-outs for HCN1: Hcn1tm1.1Lex Hcn1tm2Kndl 6 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Hcn1):
HCN1 for phenotypes About GeneDecksing
|
Pathways & Interactions for HCN1 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
| Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Potassium Channels | | | 2 | HCN channels | | | 3 | Potassium transporters: inward current | | | 4 | Sodium channels and transporters: inward current | | | 5 | Transmission across Chemical Synapses | |
Pathway sources See GeneCards unified pathways Show all pathways
2 EMD Millipore Pathways for HCN1 1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for HCN1 3
Reactome Pathways for HCN1
HCN1 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HCN1
STRING Interaction
Network Preview (showing 4 interactants - click image to see more details)
 4 Interacting proteins for HCN1 (O607413 ENSP000003073424) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table
HCN1 for ontologies About GeneDecksing
|
Drugs & Compounds for HCN1 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 HCN1
2 HMDB Compounds for HCN1 About this table Search CenterWatch for drugs/clinical trials and news about HCN1 
|
Transcripts for HCN1 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 HCN1 gene: NM_021072.3 Unigene Cluster for HCN1: Hyperpolarization activated cyclic nucleotide-gated potassium channel 1 Hs.353176 [show with all ESTs]Unigene Representative Sequence: NM_0210721 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000303230(uc003jok.3)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HCN1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HCN1 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: HCN1 (NM_021072) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HCN1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HCN1  |
Additional cDNA sequence: AF064876.1 AF488549.1 AK094523.1 BX537747.1 3 DOTS entries: DT.40229330 DT.208390 DT.97804453 24 AceView cDNA sequences: BM682352 BM674287 BM675680 BQ186189 BQ184730 AK094523 CR601376 BM717819 BM931647 BX509817 AF064876 AF488549 BX955363 BX395019 AW054787 NM_021072 BX490817 BV182724 BX537747 BF671513 BM715980 H45591 R51256 R51255 GeneLoc Exon Structure
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Expression for HCN1 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
| HCN1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: GTCTTTCAGT
About this image See HCN1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for HCN1
SOURCE GeneReport for Unigene cluster: Hs.353176 UniProtKB/Swiss-Prot: HCN1_HUMAN, O60741Tissue specificity: Detected in brain, in particular in amygdala and hippocampus, while expression in caudate nucleus,corpus callosum, substantia nigra, subthalamic nucleus and thalamus is very low or not detectable. Detected at verylow levels in muscle and pancreas SABiosciences Expression via Pathway-Focused PCR Array including HCN1:
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HCN1 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HCN1 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HCN1 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HCN1 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HCN1 |
Orthologs for HCN1 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 HCN1 gene from 7/22 species (see all 22) About this table
ENSEMBL Gene Tree for HCN1 (if available) TreeFam Gene Tree for HCN1 (if available)  |
Paralogs for HCN1 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for HCN1 gene
- KCNH62 KCNH32 KCNH52 HCN32 HCN42 HCN22 KCNH42 CNGA22
- CNGA12 KCNH72 KCNH22 CNGB12 CNGA42 CNGA32 CNGB32 KCNH12
- KCNH82
4 SIMAP similar genes for HCN1 using alignment to 2 protein entries: HCN1_HUMAN (see all proteins):HCN2 HCN3 HCN4 KCNH2
HCN1 for paralogs About GeneDecksing
|
Genomic Variants for HCN1 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 5 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for HCN1 (45259349 - 45509349 bp, first 250kb of HCN1)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 19 variations for HCN1 1 CNV: 99123 15/18 Indels (see all 18): 99124 12680 46890 93020 80901 93022 80902 80899 80904 12681 93021 80903 93023 93024 80900 Human Gene Mutation Database (HGMD): HCN1
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HCN1 |
|
Disorders
/ Diseases for HCN1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
HCN1 for disorders About GeneDecksing
OMIM gene information: 602780
OMIM disorders: --
16 diseases for HCN1: About MalaCardsgilles de la tourette syndrome attention deficit hyperactivity disorder idiopathic generalized epilepsy generalized epilepsy status epilepticus corpus callosum tourette syndrome breast cancer susceptibility fanconi's anemia neuronitis breast cancer aldosteronism anemia sinusitis seizures retinitis
1 Novoseek disease relationship for HCN1 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| epilepsy |
23.3 |
1 |
18070091 (1) |
Human Genome Epidemiology (HuGE) Navigator: HCN1 (5 documents) Export disorders for HCN1 gene to outside databases
|
Publications for HCN1 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 HCN1 gene, integrated from 9 sources (see all 61): (articles sorted by number of sources associating them with HCN1) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Identification of a gene encoding a hyperpolarization-activated 'pacemaker' channel of brain. (PubMed id 9630217)1, 2, 3 Santoro B.... Tibbs G.R. (1998)
- International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels. (PubMed id 16382102)1, 3 Hofmann F....Kaupp U.B. (2005)
- Interactive cloning with the SH3 domain of N-src identifies a new brain specific ion channel protein, with homology to eag and cyclic nucleotide-gated channels. (PubMed id 9405696)1, 3 Santoro B....Kandel E.R. (1997)
- Enhanced expression of a specific hyperpolarization-activated cyclic nucleotide-gated cation channel (HCN) in surviving dentate gyrus granule cells of human and experimental epileptic hippocampus. (PubMed id 12890777)1, 9 Bender R.A....Baram T.Z. (2003)
- Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic generalized epilepsy. (PubMed id 17931874)1, 9 Tang B....Escayg A. (2008)
- Association study for genes at chromosome 5p13-q11 in attention deficit hyperactivity disorder. (PubMed id 18081024)1, 9 Laurin N....Barr C.L. (2008)
- TRIP8b-independent trafficking and plasticity of adult cortical presynaptic HCN1 channels. (PubMed id 23077068)1 Huang Z....Shah M.M. (2012)
- Hyperpolarization-activated cation current contributes to spontaneous network activity in developing neocortical cultures. (PubMed id 22094222)1 Klueva J....Munsch T. (2012)
- Genetic analysis of hyperpolarization-activated cycli c nucleotide-gated cation channels in sudden unexpected death in epilepsy cases . (PubMed id 21615589)1 Tu E....Semsarian C. (2011)
- Trafficking and gating of hyperpolarization-activated cyclic nucleotide-gated channels are regulated by interaction with tetratricop eptide repeat-containing Rab8b-interacting protein (TRIP8b) and cyclic AMP at d istinct sites. (PubMed id 21504900)1 Han Y....Chetkovich D.M. (2011)
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External Searches for HCN1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing HCN1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing HCN1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing HCN1 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
|
|
About This Section
| Patent Information for HCN1 gene: Search GeneIP for patents involving HCN1
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for HCN1 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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| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HCN1 |
|  |  |  | | | ThermoFisher Antibodies for HCN1 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HCN1 |
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