TTC7A Gene
protein-coding GIFtS : 48
GCID: GC02 P047143
tetratricopeptide repeat domain 7A (Previous name: tetratricopeptide repeat domain 7 ) (Previous symbol: TTC7 )
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Aliasesfor TTC7A 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 Tetratricopeptide Repeat Domain 7A 1 2 TTC71 2 3 5 KIAA11401 3 5 TPR Repeat Protein 7A2 3 Tetratricopeptide Repeat Domain 71 Tetratricopeptide Repeat Protein 7A2
Export aliases for TTC7A gene to outside databases Previous GC identifers: GC02P047079 GC02P047021 GC02P046906
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Summariesfor TTC7A 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 TTC7A : The tetratricopeptide repeat (TPR) domain is defined by a degenerate consensus sequence of 34 amino acids. TPR domain-containing proteins, such as TTC7A, have diverse functions in cell cycle control, protein transport, phosphate turnover, and protein trafficking or secretion, and they can act as chaperones or scaffolding proteins (White et al., 2005 (PubMed 15718100)).(supplied by OMIM, Mar 2008)
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Genomic Viewsfor TTC7A 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_000002.11 NC_018913.1 NT_022184.15 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the TTC7A gene promoter: NF-1 NF-1/L AML1a GATA-3 Egr-1 Lmo2 Egr-4 CREB deltaCREB MRF-2 Other transcription factors Search SABiosciences Chromatin IP Primers for TTC7A Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat TTC7A
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 2p21 Ensembl cytogenetic band: 2p21 HGNC cytogenetic band: 2p16.3 TTC7A Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 2 GeneLoc Exon Structure
GeneLoc location for GC02P047143: view genomic region
(about GC identifiers )
Start:
47,143,296 bp from pter
End:
47,303,276 bp from pter
Size:
159,981 bases
Orientation:
plus strand
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Proteinsfor TTC7A 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: TTC7A_HUMAN, Q9ULT0 (See
protein sequence )Recommended Name: Tetratricopeptide repeat protein 7A Size : 858 amino acids; 96185 Da
Sequence caution : Sequence=BAA86454.2; Type=Erroneous translation; Note=Wrong choice of CDS;
Secondary accessions : Q6PIX4 Q8ND67 Q9BUS3Alternative splicing : 2 isoforms : Q9ULT0-1 Q9ULT0-3 (No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)Explore the universe of human proteins at neXtProt for TTC7A: NX_Q9ULT0 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q9ULT0 TTC7A Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_065191.2 ENSEMBL proteins: ENSP00000386307 ENSP00000316699 ENSP00000378320 ENSP00000393022 ENSP00000386521 ENSP00000401467 ENSP00000445265 ENSP00000263737 Human Recombinant Protein Products: TTC7A Antibody Products: Assay Products for TTC7A:
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Protein
Domains / Familiesfor TTC7A gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
TTC7A for domains About GeneDecksing 5 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry Q9ULT0 ProtoNet protein and cluster: Q9ULT0
UniProtKB/Swiss-Prot: TTC7A_HUMAN, Q9ULT0 Similarity : Contains 9 TPR repeats
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Functionfor TTC7A 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 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 TTC7A (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for TTC7AOriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: TTC7A (NM_020458 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TTC7A Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat TTC7A
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC7A
1 GenomeRNAi human phenotype for TTC7A :Animal Models: 13 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Ttc7) :
TTC7A for phenotypes About GeneDecksing
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Pathways & Interactionsfor TTC7A 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 TTC7A STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)1 Interacting protein for TTC7A (ENSP00000316699 4 ) via UniProtKB, MINT, STRING , and/or I2D About this table Gene Ontology (GO): 2 biological process terms (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0006879 cellular iron ion homeostasis
IEA -- GO:0030097 hemopoiesis
IEA --
TTC7A for ontologies About GeneDecksing
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Drugs & Compoundsfor TTC7A 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 TTC7A Search CenterWatch for drugs/clinical trials and news about TTC7A
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Transcriptsfor TTC7A 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 TTC7A gene: NM_020458.2 Unigene Clusters for TTC7A:
Tetratricopeptide repeat domain 7A Hs.370603 [show with all ESTs ] , Hs.736871 [show with all ESTs ] Unigene Representative Sequences: NM_020458 , BC027457 14 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000409245 ENST00000319190 (uc002rvn.1 uc002rvm.3 uc002rvo.3 uc010fbb.3 uc010fbc.3 )ENST00000461601 ENST00000394850 ENST00000441914 ENST00000409825 (uc002rvp.3 uc002rvq.3 uc002rvr.3 )ENST00000474321 ENST00000491786 ENST00000484061 ENST00000440051 ENST00000484337 ENST00000496991 ENST00000536057 ENST00000263737 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for TTC7A (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for TTC7AOriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: TTC7A (NM_020458 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TTC7A Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat TTC7A
Additional cDNA sequence: AL117512.1 BC027457.2
18 DOTS entries : DT.444751 DT.95256027
DT.100813457 DT.100641842 DT.95256014 DT.97808830 DT.95256011 DT.120932738 DT.95256008 DT.95256030 DT.91848849 DT.95256005 DT.95256026 DT.104046 DT.95256003 DT.95256013 DT.120932816 DT.97827439 3 AceView cDNA sequences :
AI418397 BF431723 BQ709930 GeneLoc Exon Structure 5/7 Alternative Splicing Database (ASD) splice patterns (SP) for TTC7A (see all 7 ) About this scheme ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ SP1 :                 -       -                     -       -     SP2 :       -       -     -       -                     -       -     SP3 :                       -                     -       -     SP4 :                                   -   -       -       -     SP5 :                                                 -    
ExUns: 23 ^ 24a · 24b SP1 :       SP2 :       SP3 :       SP4 :       SP5 :      
ECgene alternative splicing isoforms for TTC7A
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Expression for TTC7A 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 TTC7A expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: GGAGGGACCT
About this image See TTC7A Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for TTC7A SOURCE GeneReport for Unigene clusters: Hs.370603 Hs.736871 SABiosciences Custom PCR Arrays for TTC7A Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for TTC7ABrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat TTC7A QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat TTC7A QIAGEN QuantiFast Probe-based Assays in human , mouse , rat TTC7A In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC7A
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Orthologsfor TTC7A 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 eukaryotes.
Orthologs for TTC7A gene from 7/21 species (see all 21 ) About this table
ENSEMBL Gene Tree for TTC7A (if available)TreeFam Gene Tree for TTC7A (if available)
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Paralogsfor TTC7A gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for TTC7A gene TTC7B 2 5 SIMAP similar genes for TTC7A using alignment to 9 protein entries: TTC7A_HUMAN (see all proteins ):L3MBTL2 TTC7B ADCY7 PAM16 PSEN1
TTC7A for paralogs About GeneDecksing
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Genomic Variantsfor TTC7A 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 2 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for TTC7A (47143296 - 47303276 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 2 variations for TTC7A 1 CNV : 50509 1 Indel : 50508
SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing TTC7A
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Disorders
/ Diseasesfor TTC7A 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
TTC7A for disorders About GeneDecksing
OMIM gene information: 609332
OMIM disorders : --5 diseases for TTC7A : About MalaCards rheumatoid arthritis arthritis prostate cancer anemia prostatitis Human Genome Epidemiology (HuGE) Navigator: TTC7A (1 document)Export disorders for TTC7A gene to outside databases
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Publicationsfor TTC7A 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 TTC7A gene, integrated from 9 sources (see all 17 ): (articles sorted by number of sources associating them with TTC7A) Utopia : connect your pdf to the dynamic world of online information
Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461) 1 , 2 , 3 Hirosawa M.... Ohara O. (1999) Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983) 1 , 2 Olsen J.V....Mann M. (2006) 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) Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954) 1 , 2 Nakajima D.... Nagase T. (2002) A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473) 1 Wagner S.A....Choudhary C. (2011) Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983) 1 Kim W....Gygi S.P. (2011) Genome-wide association of lipid-lowering response to statins in combined study populations. (PubMed id 20339536) 1 Barber M.J....Krauss R.M. (2010) Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231) 2 Olsen J.V....Mann M. (2010) Genome-wide association study to identify single nucl eotide polymorphisms (SNPs) associated with the development of erectile dysfunc tion in African-American men after radiotherapy for prostate cancer. (PubMed id 20932654) 1 Kerns S.L....Rosenstein B.S. (2010) Genetic variants at CD28, PRDM1 and CD2/CD58 are asso ciated with rheumatoid arthritis risk. (PubMed id 19898481) 1 Raychaudhuri S....Plenge R.M. (2009)
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External Searches for TTC7A gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing TTC7A 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 TTC7A gene
(According to HUGE )
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Specialized Databases showing TTC7A 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 TTC7A Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for TTC7A gene: Search GeneIP for patents involving TTC7A GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor TTC7A 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 TTC7A OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for TTC7A OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for TTC7A OriGene Protein Over-expression Lysate for TTC7A Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for TTC7A OriGene 3'-UTR Clone for TTC7A OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for TTC7A OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for TTC7A 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 Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for TTC7A OriGene Custom Protein Services for TTC7A OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TTC7A QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing TTC7A QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat TTC7A QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat TTC7A QIAGEN QuantiFast Probe-based Assays in human , mouse , rat TTC7A QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat TTC7A
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TTC7A Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC7A
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Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat TTC7A
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Aliases for TTC7A
Databases for TTC7A
Disorders / Diseases for TTC7A
Domains / Families for TTC7A
Drugs / Compounds for TTC7A
Expression for TTC7A
Function for TTC7A
Genomic Views for TTC7A
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Orthologs for TTC7A
Paralogs for TTC7A
Pathways / Interactions for TTC7A
Products for TTC7A
Proteins for TTC7A
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Search Box for TTC7A
Summaries for TTC7A
Transcripts for TTC7A
Variants for TTC7A
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