FAM46A Gene
protein-coding GIFtS : 48
GCID: GC06 M082201
family with sequence similarity 46, member A (Previous name: chromosome 6 open reading frame 37 ) (Previous symbol: C6orf37 )
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Aliasesfor FAM46A 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 Family With Sequence Similarity 46, Member A 1 2 FLJ200371 C6orf371 2 3 Chromosome 6 Open Reading Frame 371 XTP112 3 Protein FAM46A2 HBV X-Transactivated Gene 11 Protein2 3 Retinal Expressed Gene C6orf372 HBV XAg-Transactivated Protein 112 3
Export aliases for FAM46A gene to outside databases Previous GC identifers: GC06M082512 GC06M079672
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Summariesfor FAM46A gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Gene Wiki entry for FAM46A
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Genomic Viewsfor FAM46A 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_007299.13 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the FAM46A gene promoter: AREB6 LHX3b/Lhx3b POU2F1 POU2F1a LHX3a/Lhx3a Nkx2-5 Pax-4a C/EBPalpha Other transcription factors Search SABiosciences Chromatin IP Primers for FAM46A Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat FAM46A
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 6q14 Ensembl cytogenetic band: 6q14.1 HGNC cytogenetic band: 6q14 FAM46A 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 GC06M082201: view genomic region
(about GC identifiers )
Start:
82,201,156 bp from pter
End:
82,462,491 bp from pter
Size:
261,336 bases
Orientation:
minus strand
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Proteinsfor FAM46A 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: FA46A_HUMAN, Q96IP4 (See
protein sequence )Recommended Name: Protein FAM46A Size : 442 amino acids; 49666 Da
Sequence caution : Sequence=AAH00683.1; Type=Erroneous initiation;
Secondary accessions : A8K7U4 Q5TF86 Q8NFZ9 Q9BW32 Q9NXV5Alternative splicing : 2 isoforms : Q96IP4-1 Q96IP4-2 Explore the universe of human proteins at neXtProt for FAM46A: NX_Q96IP4 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q96IP4 FAM46A Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_060103.2 ENSEMBL proteins: ENSP00000401884 ENSP00000358769 ENSP00000318298 ENSP00000358771 ENSP00000404872 Human Recombinant Protein Products: FAM46A Antibody Products: Assay Products for FAM46A:
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Protein
Domains / Familiesfor FAM46A gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
FAM46A for domains About GeneDecksing 1 InterPro domain/family :
Graphical View of Domain Structure for InterPro Entry Q96IP4 ProtoNet protein and cluster: Q96IP4
1 Blocks protein family : IPB012937 Protein of unknown function DUF1693 UniProtKB/Swiss-Prot: FA46A_HUMAN, Q96IP4 Similarity : Belongs to the FAM46 family
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Functionfor FAM46A 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 FAM46A (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for FAM46AOriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: FAM46A (NM_017633 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for FAM46A Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat FAM46A
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM46A
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Pathways & Interactionsfor FAM46A 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 FAM46A STRING Interaction
Network Preview (showing 5 interactants - click image to see 7)5/20 Interacting proteins for FAM46A (Q96IP4 3 ENSP00000318298 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 20 )About this table
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Drugs & Compoundsfor FAM46A 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 FAM46A Search CenterWatch for drugs/clinical trials and news about FAM46A / FA46A
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Transcriptsfor FAM46A 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 FAM46A gene: NM_017633.2 Unigene Cluster for FAM46A:
Family with sequence similarity 46, member A Hs.10784 [show with all ESTs ] Unigene Representative Sequence: NM_017633 5 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000412306 ENST00000369754 (uc003pjf.3 ) ENST00000320172 (uc003pjg.3 )ENST00000369756 (uc003pjh.1 ) ENST00000423467 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for FAM46A (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for FAM46AOriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: FAM46A (NM_017633 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for FAM46A Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat FAM46A
Additional cDNA sequence: AF350451.1 AJ420583.1 AJ420591.1 AJ420592.1 AK000044.1 AK056057.1 AK096704.1 AK292109.1 AY740520.1 BC000683.2 BC007351.2 BX648876.1 FJ211061.1
14 DOTS entries : DT.445041 DT.92428345
DT.70102080 DT.91645287 DT.121357853 DT.121357896 DT.121357898 DT.95210334 DT.97768233 DT.100029007 DT.92428347 DT.95166364 DT.121357848 DT.95166119 24/270 AceView cDNA sequences (see all 270 ):
W24768 BM756429 CA443100 BQ631697 BM755531 AA447800 CD514367 BE349007 BX502345 CA771043 BQ437950 BE253590 AA021540 AA490635 R78251 BG055014 AA456648 CA308095 AW188795 BM915335 AA757798 AJ346644 AI291802 AI274450 GeneLoc Exon Structure 4 Alternative Splicing Database (ASD) splice patterns (SP) for FAM46A About this scheme ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 SP1 :   -   -         SP2 :     -         SP3 :             SP4 :            
ECgene alternative splicing isoforms for FAM46A
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Expression for FAM46A 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 FAM46A expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: TTTGAATCAG
About this image FAM46A expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See FAM46A Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for FAM46A SOURCE GeneReport for Unigene cluster: Hs.10784 UniProtKB/Swiss-Prot: FA46A_HUMAN, Q96IP4 Tissue specificity : Widely expressed, with preferential expression observed in the retina compared to other oculartissues SABiosciences Custom PCR Arrays for FAM46A Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for FAM46ABrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat FAM46A QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat FAM46A QIAGEN QuantiFast Probe-based Assays in human , mouse , rat FAM46A In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM46A
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Orthologsfor FAM46A 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 animals.
Orthologs for FAM46A gene from 6/21 species (see all 21 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
FAM46A1
family with sequence similarity 46, member A
84.95(n) 93.88(a)
 
421845 NM_001031085.1 NP_001026256.1
lizard (Anolis carolinensis)
Reptilia
FAM46A6
--
87(a)
1 ↔ 1
1(198460110-198464764)
African clawed frog (Xenopus laevis)
Amphibia
Xl.130862
Xenopus laevis transcribed sequence with strong similarity more
83.12(n)
 
48047239
zebrafish (Danio rerio)
Actinopterygii
LOC1003306761
protein FAM46A-like
77.48(n) 87.07(a)
 
100330676 XM_002664776.1 XP_002664822.1
fruit fly (Drosophila melanogaster)
Insecta
CG304976
--
25(a)
1 → many
2R(3624524-3670142)
worm (Caenorhabditis elegans)
Secernentea
pqn-446
Prion-like-(Q/N-rich)-domain-bearing protein famil...
34(a)
1 → many
I(5372854-5384511)
ENSEMBL Gene Tree for FAM46A (if available)TreeFam Gene Tree for FAM46A (if available)
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Paralogsfor FAM46A gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for FAM46A gene FAM46B 2 FAM46D 2 FAM46C 2 4 SIMAP similar genes for FAM46A using alignment to 5 protein entries: FA46A_HUMAN (see all proteins ):XTP11 FAM46C FAM46D FAM46B
FAM46A for paralogs About GeneDecksing
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Genomic Variantsfor FAM46A 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 6 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for FAM46A (82201156 - 82451156 bp, first 250kb of FAM46A)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for FAM46A: --
SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing FAM46A
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Disorders
/ Diseasesfor FAM46A 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
FAM46A for disorders About GeneDecksing
OMIM gene information: 611357
OMIM disorders : --5 diseases for FAM46A : About MalaCards retinitis retinitis pigmentosa retinal disease colorectal cancer ataxia Human Genome Epidemiology (HuGE) Navigator: FAM46A (4 documents) Export disorders for FAM46A gene to outside databases
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Publicationsfor FAM46A 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 FAM46A gene, integrated from 9 sources (see all 17 ): (articles sorted by number of sources associating them with FAM46A) Utopia : connect your pdf to the dynamic world of online information
Identification and characterization of C6orf37, a novel candidate human retinal disease gene on chromosome 6q14. (PubMed id 12054608) 1 , 2 , 3 Lagali P.S.... Ayyagari R. (2002) Genetic analysis of FAM46A in Spanish families with a utosomal recessive retinitis pigmentosa: characterisation of novel VNTRs. (PubMed id 17803723) 1 , 3 BarragA!n I....AntiA+olo G. (2008) Identification of a novel VNTR polymorphism in C6orf37 and its association with colorectal cancer risk in Chinese population. (PubMed id 16545789) 1 , 2 Cui J....Yao C. (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) 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) Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983) 1 Kim W....Gygi S.P. (2011) Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572) 1 Lee K.A....Doedens J.R. (2011) A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064) 1 He C....Hunter D.J. (2010) Hundreds of variants clustered in genomic loci and bi ological pathways affect human height. (PubMed id 20881960) 1 Lango Allen H....Hirschhorn J.N. (2010)
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External Searches for FAM46A gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing FAM46A 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 FAM46A gene
(According to HUGE )
About This Section --
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Specialized Databases showing FAM46A 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 FAM46A Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for FAM46A gene: Search GeneIP for patents involving FAM46A GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor FAM46A 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 FAM46A OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for FAM46A OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for FAM46A OriGene Protein Over-expression Lysate for FAM46A Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for FAM46A OriGene 3'-UTR Clone for FAM46A OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for FAM46A OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for FAM46A 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 FAM46A OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for FAM46A OriGene Custom Protein Services for FAM46A OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FAM46A QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing FAM46A QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat FAM46A QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat FAM46A QIAGEN QuantiFast Probe-based Assays in human , mouse , rat FAM46A QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat FAM46A
Search Tocris compounds for FAM46A
FAM46A Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM46A
ThermoFisher Antibodies for FAM46A
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat FAM46A
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Aliases for FAM46A
Databases for FAM46A
Disorders / Diseases for FAM46A
Domains / Families for FAM46A
Drugs / Compounds for FAM46A
Expression for FAM46A
Function for FAM46A
Genomic Views for FAM46A
Intellectual Property for FAM46A
Orthologs for FAM46A
Paralogs for FAM46A
Pathways / Interactions for FAM46A
Products for FAM46A
Proteins for FAM46A
Publications for FAM46A
Search Box for FAM46A
Summaries for FAM46A
Transcripts for FAM46A
Variants for FAM46A
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