SNPH Gene
protein-coding GIFtS: 51
GCID: GC20P001246
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syntaphilin
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Aliases
for SNPH gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Syntaphilin1 | | BA314N13.51 | | KIAA03743 |
Export aliases for SNPH gene to outside databasesPrevious GC identifers: GC20P001235 GC20P001241 GC20P001194 |
Summaries
for SNPH 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 SNPH:
Syntaxin-1, synaptobrevin/VAMP, and SNAP25 interact to form the SNARE complex, which is required for synaptic vesicledocking and fusion. The protein encoded by this gene is membrane-associated and inhibits SNARE complex formation bybinding free syntaxin-1. Expression of this gene appears to be brain-specific. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: SNPH_HUMAN, O15079Function: Inhibits SNARE complex formation by absorbing free syntaxin-1
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Genomic Views
for SNPH 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_000020.10 NC_018931.1 NT_011387.8
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the SNPH gene promoter:
NF-1/L NF-1 Spz1 GATA-3 MyoD GATA-1 GATA-2 POU2F1 POU2F1a Pax-4a
Other transcription factors
Search SABiosciences Chromatin IP Primers for SNPH
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SNPH |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 20p13 Ensembl cytogenetic band: 20p13 HGNC cytogenetic band: 20p13SNPH Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 20 GeneLoc Exon Structure GeneLoc location for GC20P001246: view genomic region
(about GC identifiers)
Start:
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1,246,960 bp from pter |
End:
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1,289,972 bp from pter |
Size:
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43,013 bases |
Orientation:
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plus strand |
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Proteins
for SNPH 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: SNPH_HUMAN, O15079 (See
protein sequence)Recommended Name: Syntaphilin Size: 494 amino acids; 53537 Da
Subunit: Binds to syntaxin-1
Subcellular location: Membrane; Single-pass membrane protein (Potential). Cell junction, synapse, synaptosome
Sequence caution: Sequence=BAA20829.2; Type=Erroneous initiation;
Secondary accessions: Q8IYI3Alternative splicing: 2 isoforms: O15079-1 O15079-2 Explore the universe of human proteins at neXtProt for SNPH: NX_O15079
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O15079
SNPH Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_055538.2
ENSEMBL proteins: ENSP00000371297 ENSP00000371291
Human Recombinant Protein Products:
Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11): About this table
SNPH for ontologies About GeneDecksing
SNPH Antibody Products:
Assay Products for SNPH: |
Protein
Domains /
Families
for SNPH gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SNPH for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry O15079ProtoNet protein and cluster: O15079 |
Function
for SNPH 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: SNPH_HUMAN, O15079Function: Inhibits SNARE complex formation by absorbing free syntaxin-1
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 SNPH (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SNPH
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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| |  | GenScript: all cDNA clones in your preferred vector: SNPH (NM_014723) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SNPH | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNPH |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNPH |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table
SNPH for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Snphtm1Zhs for SNPH
3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Snph):
SNPH for phenotypes About GeneDecksing
|
Pathways & Interactions
for SNPH 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:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SNPH
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
1 Interacting protein for SNPH (O150793 ENSP000003712974) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table
SNPH for ontologies About GeneDecksing
|
Drugs & Compounds
for SNPH 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 SNPH
Search CenterWatch for drugs/clinical trials and news about SNPH
|
Transcripts
for SNPH 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 SNPH gene: NM_014723.2 Unigene Cluster for SNPH: Syntaphilin Hs.323833 [show with all ESTs]Unigene Representative Sequence: AF1877332 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000381873(uc002wes.3) ENST00000381867(uc002wet.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SNPH (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SNPH
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: SNPH (NM_014723) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SNPH | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNPH |
Additional cDNA sequence: AB002372.1 AF187733.1 BC035788.1 3 DOTS entries: DT.213879 DT.97824237 DT.100752050 24/79 AceView cDNA sequences (see all 79): AW955162 CK903800 CB152741 BM547815 NM_014723 AF187733 AL119802 AB002372 CR597443 AI758880 BI962728 CD626003 BX452540 BG910456 AI279200 BU622979 AA603105 BX957188 BM987291 BU729002 BX452539 BQ639449 BF684077 AI818093
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for SNPH About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | · | 7c |
|---|
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| SP1: | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | |
| SP2: | | | | | | | | | - | | - | | | | | | - | | | | | | | | | | | | |
| SP3: | | | | | | | | | - | | - | | | | - | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for SNPH
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Expression
for SNPH 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
| SNPH expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See SNPH Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SNPH
SOURCE GeneReport for Unigene cluster: Hs.323833
UniProtKB/Swiss-Prot: SNPH_HUMAN, O15079Tissue specificity: Brain specific. Found in synapses
SABiosciences Custom PCR Arrays for SNPH
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SNPH
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SNPH | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SNPH | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SNPH | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNPH |
Orthologs
for SNPH 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 chordates.
Orthologs for SNPH gene from 3/10 species (see all 10) About this table
ENSEMBL Gene Tree for SNPH (if available)
TreeFam Gene Tree for SNPH (if available) |
Paralogs
for SNPH gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for SNPH gene
- SYBU2
1 SIMAP similar gene for SNPH using alignment to 1 protein entry: SNPH_HUMAN:SYBU
SNPH for paralogs About GeneDecksing
|
Genomic Variants
for SNPH 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 20 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for SNPH (1246960 - 1289972 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for SNPH
3 CNVs: 90428 90427 73456 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SNPH |
|
Disorders
/ Diseases
for SNPH 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
|
SNPH for disorders About GeneDecksing
OMIM gene information: 604942
OMIM disorders: --
3  diseases for SNPH: About MalaCardsnormal pressure hydrocephalus hydrocephalus multiple sclerosis
1 disease from the University of Copenhagen DISEASES database for SNPH:Normal pressure hydrocephalus Human Genome Epidemiology (HuGE) Navigator: SNPH (1 document)
Export disorders for SNPH gene to outside databases
|
Publications
for SNPH 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 SNPH gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with SNPH) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Syntaphilin: a syntaxin-1 clamp that controls SNARE assembly. (PubMed id 10707983)1, 2, 3, 9 Lao G....Sheng Z.-H. (2000)
- The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
- Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)1, 2 Nagase T.... Ohara O. (1997)
- Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
- hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- Syntaphilin binds to dynamin-1 and inhibits dynamin-dependent endocytosis. (PubMed id 12896979)1 Das S....Sheng Z.H. (2003)
- 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)
- Phosphorylation of syntaphilin by cAMP-dependent protein kinase modulates its interaction with syntaxin-1 and annuls its inhibitory effect on vesicle exocytosis. (PubMed id 14985338)9 Boczan J....Sheng Z.H. (2004)
- Mitochondrial changes within axons in multiple sclerosis. (PubMed id 19293237)9 Mahad D.J....Turnbull D.M. (2009)
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External Searches for SNPH gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing SNPH gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SNPH gene
(According to HUGE)
About This Section
| |
Specialized Databases showing SNPH 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 SNPH | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for SNPH gene:
Search GeneIP for patents involving SNPH
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for SNPH 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
|
 | |
 | |
 |
| | |  | OriGene Antibodies for SNPH | | OriGene shRNA RFP for SNPH | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SNPH | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SNPH | | | OriGene Protein Over-expression Lysate for SNPH | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for SNPH | | OriGene 3'-UTR Clone for SNPH | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SNPH | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SNPH | | | 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 SNPH | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for SNPH | | OriGene Custom Protein Services for SNPH | | | OriGene Custom Immunoassay Development | | |
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 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SNPH | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SNPH | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SNPH | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SNPH | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SNPH | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SNPH |
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 |  |  |  | |
| | | | Search Tocris compounds for SNPH |
| |  |  |  |  | | | | | | Recombinant Protein for SNPH |
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 | | | SNPH Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNPH |
|  |  |  | | | | ThermoFisher Antibodies for SNPH |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNPH |
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