IFT80 Gene
protein-coding GIFtS: 49
GCID: GC03M159974
|
|
intraflagellar transport 80 homolog (Chlamydomonas)(Previous name: WD repeat domain 56 ) (Previous symbol: WDR56)
| |
Aliases for IFT80 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Intraflagellar Transport 80 Homolog (Chlamydomonas)1 2 | | WD Repeat-Containing Protein 562 3 | | WDR561 2 3 5 | | ATD22 5 | | KIAA13741 3 5 | | Intraflagellar Transport Protein 80 Homolog2 | | WD Repeat Domain 561 2 | | |
Export aliases for IFT80 gene to outside databasesPrevious GC identifers: GC03M161459 GC03M159945 GC03M157373 |
Summaries for IFT80 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 IFT80: The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function ofmotile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Threetranscript variants encoding two different isoforms have been found for this gene.(provided by RefSeq, Jun 2010) UniProtKB/Swiss-Prot: IFT80_HUMAN, Q9P2H3Function: Component of the intraflagellar transport (IFT) complex B, which is essential for the development andmaintenance of motile and sensory cilia Gene Wiki entry for IFT80
|
Genomic Views for IFT80 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_000003.11 NC_018914.1 NT_005612.16
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the IFT80 gene promoter: E2F-4 E2F-3a E2F-5 Sp1 HTF Lmo2 E2F-2 E2F E2F-1 POU2F1a Other transcription factors
Search SABiosciences Chromatin IP Primers for IFT80
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IFT80 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3q25.33 Ensembl cytogenetic band: 3q25.33 HGNC cytogenetic band: 3q25.33IFT80 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03M159974: view genomic region
(about GC identifiers)
Start:
|
159,974,774 bp from pter |
End:
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160,117,668 bp from pter |
Size:
|
142,895 bases |
Orientation:
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minus strand |
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Proteins for IFT80 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: IFT80_HUMAN, Q9P2H3 (See
protein sequence)Recommended Name: Intraflagellar transport protein 80 homolog Size: 777 amino acids; 88035 Da
Subcellular location: Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body (By similarity). Cytoplasm, cytoskeleton,cilium axoneme (By similarity). Note=Basal body and ciliary axoneme (By similarity)
Secondary accessions: B4E0K1 C9J8I0 Q3MJC4 Q86YF4 Q9UIX1Alternative splicing: 2 isoforms: Q9P2H3-1 Q9P2H3-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for IFT80: NX_Q9P2H3
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9P2H3 IFT80 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001177170.1 NP_001177171.1 NP_065851.1 ENSEMBL proteins: ENSP00000312778 ENSP00000418196 ENSP00000420646 ENSP00000417552 ENSP00000420401 ENSP00000420260 ENSP00000418602 ENSP00000419458 ENSP00000420001 ENSP00000417057 ENSP00000417861 ENSP00000420758 ENSP00000418497 ENSP00000418455 ENSP00000419468 Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
IFT80 for ontologies About GeneDecksing
IFT80 Antibody Products: Assay Products for IFT80: |
Protein
Domains / Families for IFT80 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
IFT80 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9P2H3ProtoNet protein and cluster: Q9P2H3 UniProtKB/Swiss-Prot: IFT80_HUMAN, Q9P2H3Similarity: Contains 7 WD repeats |
Function for IFT80 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: IFT80_HUMAN, Q9P2H3Function: Component of the intraflagellar transport (IFT) complex B, which is essential for the development andmaintenance of motile and sensory cilia
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 IFT80 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IFT80 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFT80 |
1 GenomeRNAi human phenotype for IFT80: Animal Models: 7 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Ift80):
IFT80 for phenotypes About GeneDecksing
|
Pathways & Interactions for IFT80 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 IFT80
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
 2 Interacting proteins for IFT80 (Q9P2H33 ENSP000003127784) via UniProtKB, MINT, STRING, and/or I2DAbout this table
|
Drugs & Compounds for IFT80 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 IFT80 Search CenterWatch for drugs/clinical trials and news about IFT80 
|
Transcripts for IFT80 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 IFT80 gene (3 alternative transcripts): NM_001190241.1 NM_001190242.1 NM_020800.2 Unigene Cluster for IFT80: Intraflagellar transport 80 homolog (Chlamydomonas) Hs.478095 [show with all ESTs]Unigene Representative Sequence: NM_00119024118/27 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 27): ENST00000326448(uc021xgq.1 uc003fde.2 uc003fdd.2 uc021xgr.1) ENST00000483465(uc003fdb.2) ENST00000496589 ENST00000487943 ENST00000478278 ENST00000463240 ENST00000483325 ENST00000472555 ENST00000461213 ENST00000478460 ENST00000484963 ENST00000465537 ENST00000472773 ENST00000475677 ENST00000498409 ENST00000468218 ENST00000486856 ENST00000478370
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IFT80 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IFT80 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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Additional cDNA sequence: AB037795.1 AK055904.1 AK125342.1 AK303410.1 AL133045.1 BC030774.1 BC042027.1 BC101494.1 BC113669.1 17 DOTS entries: DT.95155555 DT.214187 DT.100791858 DT.99955215 DT.100771030 DT.100791857 DT.120858496 DT.436095 DT.100791861 DT.100828681 DT.120858482 DT.120858553 DT.100709209 DT.120858514 DT.92427647 DT.95152048 DT.70101144 24/242 AceView cDNA sequences (see all 242): NM_173084 BM551926 AA904964 CA389017 AA629865 AA687346 BC068444 CA421514 BM461402 AI478134 BE221745 AA699513 AI912920 AA856870 BE044058 AI979187 AW504973 BM798909 BX115770 CA389016 AB037795 AY159379 AL601983 AA256541 GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for IFT80 About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21a | · | 21b | |
| SP1: | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for IFT80
|
Expression for IFT80 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
| IFT80 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: TTTCTTTTCT
About this image See IFT80 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for IFT80
SOURCE GeneReport for Unigene cluster: Hs.478095 SABiosciences Expression via Pathway-Focused PCR Array including IFT80:
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for IFT80 Browse OriGene validated miRNA SYBR primer pairs
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| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFT80 |
Orthologs for IFT80 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 animals.
Orthologs for IFT80 gene from 7/25 species (see all 25) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
mouse (Mus musculus) |
Mammalia |
Ift801 , 5 |
intraflagellar transport 80 homolog (Chlamydomonas)5 intraflagellar transport 801 |
88.23(n)1 94.72(a)1 |
  |
3 (32.07 cM)5 682591 NM_026641.21 NP_080917.11 688924995 |
chicken (Gallus gallus) |
Aves |
IFT801 |
intraflagellar transport 80 homolog (Chlamydomonas) |
79.58(n) 84.59(a) |
  |
425014 XM_422817.3 XP_422817.3 |
lizard (Anolis carolinensis) |
Reptilia |
IFT806 |
-- |
83(a) |
1 → many |
3(13057140-13138282) |
African clawed frog (Xenopus laevis) |
Amphibia |
kiaa1374-A-prov2 |
conserved hypothetical protein |
77.28(n) |
  |
AF549903.1 |
zebrafish (Danio rerio) |
Actinopterygii |
wufj11a062 |
Transcribed sequence with weak similarity to protein more |
75.35(n) |
  |
BG303007.1 |
fruit fly (Drosophila melanogaster) |
Insecta |
Oseg51 |
CG9333-PB |
48.04(n) 37.57(a) |
  |
35349 NM_136220.2 NP_610064.2 |
worm (Caenorhabditis elegans) |
Secernentea |
che-21 |
Protein CHE-2 |
52.07(n) 41.27(a) |
  |
180401 NM_075705.4 NP_508106.1 |
ENSEMBL Gene Tree for IFT80 (if available) TreeFam Gene Tree for IFT80 (if available)  |
Paralogs for IFT80 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for IFT80 gene
- ENSG000002487102
IFT80 for paralogs About GeneDecksing
2 Pseudogenes.org Pseudogenes for IFT80 PGOHUM00000246788 PGOHUM00000246789
|
Genomic Variants for IFT80 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 3 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for IFT80 (159974774 - 160117668 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for IFT80 1 Indel: 40574 Human Gene Mutation Database (HGMD): IFT80
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IFT80 |
|
Disorders
/ Diseases for IFT80 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
|
IFT80 for disorders About GeneDecksing
OMIM gene information: 611177 OMIM disorders: 611263 UniProtKB/Swiss-Prot: IFT80_HUMAN, Q9P2H3
Defects in IFT80 are the cause of asphyxiating thoracic dystrophy type 2 (ATD2) [MIM:611263]. An autosomalrecessive chondrodysplasia characterized by a severely constricted thoracic cage, short-limbed short stature, andpolydactyly. It often leads to death in infancy because of respiratory insufficiency. Retinal degeneration, cysticrenal disease and hepatic disease can be present in affected individuals who survive early childhood 12 diseases for IFT80: About MalaCardsasphyxiating thoracic dystrophy asphyxiating thoracic dystrophy 2 ellis-van creveld syndrome aspiration pneumonitis short stature sensenbrenner syndrome polydactyly retinal degeneration chondrodysplasia retinitis hepatitis neuronitis 4 diseases from the University of Copenhagen DISEASES database for IFT80:Asphyxiating thoracic dystrophy Polydactyly Sensenbrenner syndrome Aspiration pneumonitis Export disorders for IFT80 gene to outside databases
|
Publications for IFT80 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 IFT80 gene integrated from 9 sources: (articles sorted by number of sources associating them with IFT80) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2, 3 Nagase T.... Ohara O. (2000)
- IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. (PubMed id 17468754)1, 2 Beales P.L.... Scambler P.J. (2007)
- The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)1, 2 Muzny D.M....Gibbs R.A. (2006)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Mutation in IFT80 in a fetus with the phenotype of Ve rma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spect rum. (PubMed id 19648123)1 Cavalcanti D.P....Cormier-Daire V. (2011)
- Identification and characterization of a long isoform of human IFT80, IFT80-L. (PubMed id 18601909)1 Huang W....Li M.D. (2008)
- The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (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)
- Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs. (PubMed id 12421765)1 Nakayama M....Ohara O. (2002)
- 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)
|
External Searches for IFT80 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing IFT80 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing IFT80 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing IFT80 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 IFT80 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for IFT80 gene: Search GeneIP for patents involving IFT80
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for IFT80 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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 | | IFT80 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFT80 |
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| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IFT80 |
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