C19orf40 Gene
protein-coding GIFtS: 49
GCID: GC19P033463
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|
chromosome 19 open reading frame 40
| |
Aliases
for C19orf40 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Chromosome 19 Open Reading Frame 401 2 | | FAAP241 2 5 | | FLJ468281 | | MGC320201 | | Fanconi Anemia-Associated Protein Of 24 KDa2 | | Fanconi Anemia-Associated Protein, 24 KDa2 |
Export aliases for C19orf40 gene to outside databasesPrevious GC identifers: GC19P038156 GC19P029965 |
Summaries
for C19orf40 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 C19orf40:
FAAP24 is a component of the Fanconi anemia (FA) core complex (see MIM 227650), which plays a crucial role in DNAdamage response (Ciccia et al., 2007 (PubMed 17289582)).(supplied by OMIM, Mar 2008)
UniProtKB/Swiss-Prot: FAP24_HUMAN, Q9BTP7Function: Plays a role in DNA repair through recruitment of the FA core complex to damaged DNA. Regulates FANCD2monoubiquitination upon DNA damage. Induces chromosomal instability as well as hypersensitivity to DNA cross-linkingagents, when repressed. Targets FANCM/FAAP24 complex to the DNA, preferentially to single strand DNA
|
Genomic Views
for C19orf40 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_000019.9 NC_018930.1 NT_011109.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the C19orf40 gene promoter:
ISGF-3 FOXD1 YY1 CREB CBF-B CBF-A HSF2 deltaCREB Ik-1 CBF(2)
Other transcription factors
Search SABiosciences Chromatin IP Primers for C19orf40
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C19orf40 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19q13.11 Ensembl cytogenetic band: 19q13.11 HGNC cytogenetic band: 19q13.11C19orf40 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19P033463: view genomic region
(about GC identifiers)
Start:
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33,463,115 bp from pter |
End:
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33,469,128 bp from pter |
Size:
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6,014 bases |
Orientation:
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plus strand |
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Proteins
for C19orf40 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: FAP24_HUMAN, Q9BTP7 (See
protein sequence)Recommended Name: Fanconi anemia-associated protein of 24 kDa Size: 215 amino acids; 23897 Da
Subunit: Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9, FANCMand FAAP24. Interacts with FANCM
Subcellular location: Nucleus
Secondary accessions: B3KY46 Q8WUJ7 Q96FX6Explore the universe of human proteins at neXtProt for C19orf40: NX_Q9BTP7
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9BTP7
C19orf40 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_689479.1
ENSEMBL proteins: ENSP00000254262 ENSP00000465569 ENSP00000466121 ENSP00000465728 ENSP00000468475 Reactome Protein details: Q9BTP7
Human Recombinant Protein Products:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
C19orf40 for ontologies About GeneDecksing
C19orf40 Antibody Products:
Assay Products for C19orf40: |
Protein
Domains /
Families
for C19orf40 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
C19orf40 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9BTP7ProtoNet protein and cluster: Q9BTP7 UniProtKB/Swiss-Prot: FAP24_HUMAN, Q9BTP7Domain: The C-terminal region is distantly related to RuvA domain 2, a DNA-binding domain |
Function
for C19orf40 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: FAP24_HUMAN, Q9BTP7Function: Plays a role in DNA repair through recruitment of the FA core complex to damaged DNA. Regulates FANCD2monoubiquitination upon DNA damage. Induces chromosomal instability as well as hypersensitivity to DNA cross-linkingagents, when repressed. Targets FANCM/FAAP24 complex to the DNA, preferentially to single strand DNA
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C19orf40 (see all 2)
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C19orf40 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
C19orf40 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for C19orf40:
|
Pathways & Interactions
for C19orf40 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
|
Pathway sources
See GeneCards unified pathways
Show all pathways
2 
Reactome Pathways for C19orf40
C19orf40 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for C19orf40
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/28 Interacting proteins for C19orf40 (Q9BTP73 ENSP000002542624) via UniProtKB, MINT, STRING, and/or I2D (see all 28)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006281 | DNA repair |
TAS | -- |
C19orf40 for ontologies About GeneDecksing
|
Drugs & Compounds
for C19orf40 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 C19orf40
Search CenterWatch for drugs/clinical trials and news about C19orf40 / FAP24
|
Transcripts
for C19orf40 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 C19orf40 gene: NM_152266.3 Unigene Cluster for C19orf40: Chromosome 19 open reading frame 40 Hs.579899 [show with all ESTs]Unigene Representative Sequence: AK1286686 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000254262(uc002nud.4) ENST00000589646 ENST00000588258 ENST00000590179
ENST00000590281 ENST00000591791
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C19orf40 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C19orf40 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: C19orf40 (NM_152266) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for C19orf40 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C19orf40 |
Additional cDNA sequence: AK128668.1 AK309396.1 BC003535.1 BC010170.2 BC020247.1 5 DOTS entries: DT.91715187 DT.91715190 DT.40188534 DT.91715195 DT.101966949 24/54 AceView cDNA sequences (see all 54): BF793189 NM_152266 BE396092 BX382115 BQ421060 BM452862 BF036840 AK128668 BG164300 BE790609 BX390218 BG474464 BC020247 BG167873 BC010170 BC003535 BM782044 BM761534 BF969106 CA307247 BE563642 BU155119 BE793971 BI829252
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for C19orf40 About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | · | 5c | · | 5d |
|---|
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| SP1: | | | | | | | | | - | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | - | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | - | | - | | - | | | | | | | | | | | |
ECgene alternative splicing isoforms for C19orf40
|
Expression
for C19orf40 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
| C19orf40 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGACAGGTG
About this image
See C19orf40 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C19orf40
SOURCE GeneReport for Unigene cluster: Hs.579899
SABiosciences Custom PCR Arrays for C19orf40
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C19orf40
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C19orf40 |
Orthologs
for C19orf40 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 C19orf40 gene from 4/14 species (see all 14) About this table
ENSEMBL Gene Tree for C19orf40 (if available)
TreeFam Gene Tree for C19orf40 (if available) |
Paralogs
for C19orf40 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for C19orf40 gene
1 SIMAP similar gene for C19orf40 using alignment to 1 protein entry: K7EKQ4_HUMAN:FAAP24
C19orf40 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for C19orf40
PGOHUM00000239652
|
Genomic Variants
for C19orf40 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 19 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for C19orf40 (33463115 - 33469128 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for C19orf40
1 Indel: 58868 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C19orf40 |
|
Disorders
/ Diseases
for C19orf40 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
|
C19orf40 for disorders About GeneDecksing
OMIM gene information: 610884
OMIM disorders: --
2  diseases for C19orf40: About MalaCardsfanconi's anemia anemia
1 disease from the University of Copenhagen DISEASES database for C19orf40:Fanconi's anemia Export disorders for C19orf40 gene to outside databases
|
Publications
for C19orf40 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 C19orf40 gene, integrated from 9 sources (see all 17):
(articles sorted by number of sources associating them with C19orf40) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM. (PubMed id 17289582)1, 2, 3 Ciccia A....West S.C. (2007)
- 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)
- A ubiquitin-binding protein, FAAP20, links RNF8-mediat ed ubiquitination to the Fanconi anemia DNA repair network. (PubMed id 22705371)1 Yan Z....Wang W. (2012)
- Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
- The FANCM/FAAP24 complex is required for the DNA inte rstrand crosslink-induced checkpoint response. (PubMed id 20670894)1 Huang M....D'Andrea A.D. (2010)
- A histone-fold complex and FANCM form a conserved DNA -remodeling complex to maintain genome stability. (PubMed id 20347428)1 Yan Z....Wang W. (2010)
- MHF1-MHF2, a histone-fold-containing protein complex, participates in the Fanconi anemia pathway via FANCM. (PubMed id 20347429)1 Singh T.R....Meetei A.R. (2010)
- FANCM connects the genome instability disorders Bloom 's Syndrome and Fanconi Anemia. (PubMed id 20064461)1 Deans A.J. and West S.C. (2009)
- FANCM and FAAP24 function in ATR-mediated checkpoint signaling independently of the Fanconi anemia core complex. (PubMed id 18995830)1 Collis S.J....Boulton S.J. (2008)
- Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
|
External Searches for C19orf40 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing C19orf40 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing C19orf40 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing C19orf40 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 C19orf40 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for C19orf40 gene:
Search GeneIP for patents involving C19orf40
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for C19orf40 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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 | | | C19orf40 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C19orf40 |
|  |  |  | | | | Search ThermoFisher Antibodies for C19orf40 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C19orf40 |
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