TTBK1 Gene
protein-coding GIFtS: 49
GCID: GC06P043259
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tau tubulin kinase 1
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Aliases
for TTBK1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Tau Tubulin Kinase 11 2 | | Tau-Tubulin Kinase 12 | | KIAA18551 3 | | EC 2.7.11.13 | | Brain-Derived Tau Kinase2 3 | | EC 2.7.118 | | BDTK2 3 | | |
Export aliases for TTBK1 gene to outside databasesPrevious GC identifers: GC06P043221 GC06P043319 GC06P042933 |
Summaries
for TTBK1 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: TTBK1_HUMAN, Q5TCY1Function: Serine/threonine kinase which is able to phosphorylate TAU on serine, threonine and tyrosine residues.Induces aggregation of TAU
|
Genomic Views
for TTBK1 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_000006.11 NC_018917.1 NT_007592.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the TTBK1 gene promoter:
ISGF-3 AML1a SREBP-1c HNF-4alpha2 HNF-4alpha1 SREBP-1b HEN1 SREBP-1a ZIC2/Zic2 Pax-4a
Other transcription factors
Search SABiosciences Chromatin IP Primers for TTBK1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TTBK1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 6p21.1 Ensembl cytogenetic band: 6p21.1 HGNC cytogenetic band: 6p21.1TTBK1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 6 GeneLoc Exon Structure GeneLoc location for GC06P043259: view genomic region
(about GC identifiers)
Start:
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43,211,222 bp from pter |
End:
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43,255,997 bp from pter |
Size:
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44,776 bases |
Orientation:
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plus strand |
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Proteins
for TTBK1 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: TTBK1_HUMAN, Q5TCY1 (See
protein sequence)Recommended Name: Tau-tubulin kinase 1 Size: 1321 amino acids; 142737 Da
Cofactor: Divalent cations. Magnesium or, to a lesser extent, manganese, but not calcium or zinc
Subcellular location: Cytoplasm
Caution: It is uncertain whether Met-1 or Met-14 is the initiator
Secondary accessions: A2A2U5 Q2L6C6 Q6ZNH0 Q8N444 Q96JH2Alternative splicing: 2 isoforms: Q5TCY1-1 Q5TCY1-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for TTBK1: NX_Q5TCY1
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q5TCY1
2 DME Specific Peptides for TTBK1 (Q5TCY1)
TTBK1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_115927.1
ENSEMBL proteins: ENSP00000259750 ENSP00000307357
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
TTBK1 for ontologies About GeneDecksing
TTBK1 Antibody Products:
Assay Products for TTBK1: |
Protein
Domains /
Families
for TTBK1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
TTBK1 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q5TCY1ProtoNet protein and cluster: Q5TCY1 UniProtKB/Swiss-Prot: TTBK1_HUMAN, Q5TCY1Similarity: Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase familySimilarity: Contains 1 protein kinase domain |
Function
for TTBK1 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: TTBK1_HUMAN, Q5TCY1Function: Serine/threonine kinase which is able to phosphorylate TAU on serine, threonine and tyrosine residues.Induces aggregation of TAUCatalytic activity: ATP + a protein = ADP + a phosphoproteinEnzyme Numbers (IUBMB): EC 2.7.112 EC 2.7.11.11
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 TTBK1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TTBK1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: TTBK1 (NM_032538) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TTBK1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TTBK1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTBK1 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004672 | protein kinase activity |
-- | -- | | GO:0004674 | protein serine/threonine kinase activity |
IEA | -- | | GO:0005524 | ATP binding |
IEA | -- |
TTBK1 for ontologies About GeneDecksing
3 GenomeRNAi human phenotypes for TTBK1:
|
Pathways & Interactions
for TTBK1 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 TTBK1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 8)
5/8 Interacting proteins for TTBK1 (Q5TCY13 ENSP000002597504) via UniProtKB, MINT, STRING, and/or I2D (see all 8)About this table
|
Drugs & Compounds
for TTBK1 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 TTBK1
5 HMDB Compounds for TTBK1 About this table
Search CenterWatch for drugs/clinical trials and news about TTBK1
|
Transcripts
for TTBK1 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 TTBK1 gene: NM_032538.1 Unigene Cluster for TTBK1: Tau tubulin kinase 1 Hs.485436 [show with all ESTs]Unigene Representative Sequence: NM_0325382 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000259750(uc003ouq.1 uc021yzs.1) ENST00000304139(uc011dvg.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TTBK1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TTBK1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: TTBK1 (NM_032538) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TTBK1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TTBK1 |
Additional cDNA sequence: AB058758.1 AB218664.1 AK055425.1 AK131217.1 AL833256.1 BC036764.1 3 DOTS entries: DT.207973 DT.102824744 DT.91702916 24/32 AceView cDNA sequences (see all 32): CD674750 T04842 CD673585 AK055425 AI364124 BE220853 AK131217 AL833256 BC036764 AB058758 AI197837 Z42763 AI869980 BI769489 H40039 AI680639 AI827963 AW016334 BF345682 CD673584 AA321860 BG912008 AI765713 N67991
GeneLoc Exon Structure
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Expression
for TTBK1 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
| TTBK1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCTCTGCCC
About this image
See TTBK1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TTBK1
SOURCE GeneReport for Unigene cluster: Hs.485436
UniProtKB/Swiss-Prot: TTBK1_HUMAN, Q5TCY1Tissue specificity: Expressed in the brain, particularly in cortical and hippocampal neurons. Weakly expressed inspinal cord and testis. No expression in adipose tissue, bladder, cervix, colon, esophagus, heart, kidney, liver,lung, ovary, placenta, prostate, skeletal muscle, small intestine, spleen, testis, thymus, thyroid or trachea
SABiosciences Custom PCR Arrays for TTBK1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TTBK1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TTBK1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TTBK1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TTBK1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTBK1 |
Orthologs
for TTBK1 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 TTBK1 gene from 6/22 species (see all 22) About this table
ENSEMBL Gene Tree for TTBK1 (if available)
TreeFam Gene Tree for TTBK1 (if available) |
Paralogs
for TTBK1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for TTBK1 gene
- VRK32 VRK12 CSNK1G32 VRK22 CSNK1D2 CSNK1G22 CSNK1A12 CSNK1A1L2
- CSNK1G12 CSNK1E2 TTBK22
5 SIMAP similar genes for TTBK1 using alignment to 2 protein entries: TTBK1_HUMAN (see all proteins):CSNK1A1 CSNK1E CSNK1D CSNK1G2 TTBK2
TTBK1 for paralogs About GeneDecksing
|
Genomic Variants
for TTBK1 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 6 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for TTBK1 (43211222 - 43255997 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for TTBK1
1 Indel: 51918 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TTBK1 |
|
Disorders
/ Diseases
for TTBK1 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
|
TTBK1 for disorders About GeneDecksing
4  diseases for TTBK1: About MalaCardsalzheimer's disease thyroiditis prostatitis neuronitis
Human Genome Epidemiology (HuGE) Navigator: TTBK1 (2 documents)
Export disorders for TTBK1 gene to outside databases
|
Publications
for TTBK1 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 TTBK1 gene, integrated from 9 sources (see all 14):
(articles sorted by number of sources associating them with TTBK1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)1, 2, 3 Nagase T.... Ohara O. (2001)
- 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)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
- Spatial learning impairment, enhanced CDK5/p35 activity, and downregulation of NMDA receptor expression in transgenic mice expressing tau-tubulin kinase 1. (PubMed id 19118186)1, 9 Sato S....Ikezu T. (2008)
- Tau-tubulin kinase 1 (TTBK1), a neuron-specific tau kinase candidate, is involved in tau phosphorylation and aggregation. (PubMed id 16923168)2, 9 Sato S.... Ikezu T. (2006)
- Tau-Tubulin Kinase 1 Expression, Phosphorylation and C o-Localization with Phospho-Ser422 Tau in the Alzheimer's Disease Brain. (PubMed id 23088643)1 Lund H....Sunnemark D. (2012)
- Tau-tubulin kinase-1 gene variants are associated wit h Alzheimer's disease in Han Chinese. (PubMed id 21219968)1 Yu N.N....Tan L. (2011)
- Genetic variations in tau-tubulin kinase-1 are linked to Alzheimer's disease in a Spanish case-control cohort. (PubMed id 20096481)1 VA!zquez-Higuera J.L....Combarros O. (2010)
- Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
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External Searches for TTBK1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing TTBK1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing TTBK1 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing TTBK1 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 TTBK1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for TTBK1 gene:
Search GeneIP for patents involving TTBK1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for TTBK1 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 TTBK1 | | OriGene shRNA RFP for TTBK1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TTBK1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TTBK1 | | | OriGene Protein Over-expression Lysate for TTBK1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for TTBK1 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TTBK1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TTBK1 | | | 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 TTBK1 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for TTBK1 | | OriGene Custom Protein Services for TTBK1 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TTBK1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TTBK1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TTBK1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TTBK1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TTBK1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TTBK1 |
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|  |  |  | | | | ThermoFisher Antibodies for TTBK1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TTBK1 |
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