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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DNTTIP1 Gene

protein-coding GIFtS: 45
GCID: GC20P044420

deoxynucleotidyltransferase, terminal, interacting protein...

(Previous name: chromosome 20 open reading frame 167 )
(Previous symbol: C20orf167)

Search for DNTTIP1
in

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our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Deoxynucleotidyltransferase, Terminal, Interacting Protein 1¹ ²		Chromosome 20 Open Reading Frame 167¹
C20orf167¹ ² ³		Deoxynucleotidyltransferase Terminal-Interacting Protein 1²
Tdif1¹ ²		TdT Binding Protein²
DJ447F3.4¹		TDIF1³
TdT-Interacting Factor 1² ³		TdIF1³
Terminal Deoxynucleotidyltransferase-Interacting Factor 1² ³

External Ids:	HGNC: 16160¹	Entrez Gene: 116092²	Ensembl: ENSG00000101457⁷	OMIM: 611388⁵	UniProtKB: Q9H147³

Export aliases for DNTTIP1 gene to outside databases

Previous GC identifers: GC20P045059 GC20P045106 GC20P045105 GC20P043853 GC20P041162

(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 DNTTIP1:

DNTTIP1 binds DNA and enhances the activity of terminal deoxynucleotidyltransferase (TDT, or DNTT; MIM 187410), a DNA

polymerase that catalyzes the polymerization of DNA in the absence of a DNA template (Yamashita et al., 2001 (PubMed

11473582)).(supplied by OMIM, Mar 2008)

UniProtKB/Swiss-Prot: TDIF1_HUMAN, Q9H147

Function: Shown to enhance TdT activity, in vitro

(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_000020.10 NC_018931.1 NT_011362.10

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the DNTTIP1 gene promoter:
USF1 AP-1 AML1a FOXD3 USF2 USF-1:USF-2 CREB c-Rel deltaCREB USF-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DNTTIP1 promoter sequence

Search SABiosciences Chromatin IP Primers for DNTTIP1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DNTTIP1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q13.12 Ensembl cytogenetic band: 20q13.12 HGNC cytogenetic band: 20q13.12

DNTTIP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DNTTIP1 gene location

GeneLoc information about chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20P044420: view genomic region (about GC identifiers)

Start:	44,420,576 bp from pter	End:	44,440,066 bp from pter
Size:	19,491 bases	Orientation:	plus strand

(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: TDIF1_HUMAN, Q9H147 (See protein sequence)

Recommended Name: Deoxynucleotidyltransferase terminal-interacting protein 1

Size: 329 amino acids; 37013 Da

Subunit: Monomer, homodimer and homotrimer. Interacts with terminal deoxynucleotidyltransferase (TdT)

Subcellular location: Nucleus

Secondary accessions: B2RA18 Q96DE3 Q9BQP2 Q9H148

Explore the universe of human proteins at neXtProt for DNTTIP1: NX_Q9H147

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9H147

DNTTIP1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_443183.1

ENSEMBL proteins:

ENSP00000361705 ENSP00000395609 ENSP00000401024 ENSP00000392509 ENSP00000400573

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	Uscn Proteins for DNTTIP1

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--

DNTTIP1 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

DNTTIP1 for domains About GeneDecksing

1 InterPro domain/family:

IPR026064 TdIF1

Graphical View of Domain Structure for InterPro Entry Q9H147

ProtoNet protein and cluster: Q9H147

(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: TDIF1_HUMAN, Q9H147

Function: Shown to enhance TdT activity, in vitro

miRNA Products:		OriGene 3'-UTR Clone: DNTTIP1 Browse MicroRNA Expression Plasmids
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNTTIP1

2 GenomeRNAi human phenotypes for DNTTIP1:

Synthetic lethal with Ras

Synthetic lethal with cisplati

(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:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for DNTTIP1

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

5/11 Interacting proteins for DNTTIP1 (Q9H147³ ENSP00000361705⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 11)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ABTB1	Q969K4³, ENSP00000232744⁴	I2D: score=1 STRING: ENSP00000232744
ESR2	Q92731³, ENSP00000343925⁴	I2D: score=1 STRING: ENSP00000343925
MDM2	Q00987³, ENSP00000417281⁴	I2D: score=1 STRING: ENSP00000417281
DNTT	P04053³, ENSP00000360216⁴	I2D: score=1 STRING: ENSP00000360216
PSMB3	P49720³	I2D: score=5

About this table

(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 Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DNTTIP1
Search CenterWatch for drugs/clinical trials and news about DNTTIP1 / TDIF1

(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,
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About This Section

REFSEQ mRNAs for DNTTIP1 gene:

NM_052951.2

Unigene Cluster for DNTTIP1:

Deoxynucleotidyltransferase, terminal, interacting protein 1

Hs.472852 [show with all ESTs]

Unigene Representative Sequence: BF972072

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000372622(uc002xpk.3) ENST00000449078 ENST00000456939 ENST00000415790

ENST00000435014 ENST00000467701

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		hsa-miR-637 hsa-miR-342-5p
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DNTTIP1

Additional cDNA sequence:

AB035676.1 AK314003.1 BC009535.1 BC024290.1

11 DOTS entries:

DT.215526 DT.100827808 DT.120817595 DT.120817589 DT.101976279 DT.95376343 DT.97864172 DT.120817467

DT.91985723 DT.92456182 DT.99930396

24/206 AceView cDNA sequences (see all 206):

AA400747 NM_052951 CA313655 Z41789 BE276663 AI423719 BC009535 AA399456

BU619239 AI358796 BE881368 BF433378 BF589661 CR616271 BM662960 BG491990

BU627507 AL449865 BM851595 BM561987 AI423728 AW246787 AL449642 F05051

GeneLoc Exon Structure

(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

DNTTIP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGGTTCTATA

About this image

DNTTIP1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Late limb mesenchymal cells (LLM cells) (Primary Cell)

Bone, Cartilage, Limb

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See DNTTIP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DNTTIP1

SOURCE GeneReport for Unigene cluster: Hs.472852

SABiosciences Custom PCR Arrays for DNTTIP1

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNTTIP1

(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 DNTTIP1 gene from 6/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Dnttip1^{1 , 5}	deoxynucleotidyltransferase, terminal, interacting more^{1, 5}	88.72(n)¹ 96.65(a)¹		2 (85.27 cM)⁵ 76233¹ NM_133763.1¹ NP_598524.1¹ 164745983⁵
chicken (Gallus gallus)	Aves	DNTTIP1¹	deoxynucleotidyltransferase, terminal, interacting more	77.12(n) 78.1(a)		431225 XM_428778.3 XP_428778.3
lizard (Anolis carolinensis)	Reptilia	DNTTIP1⁶	--	71(a)	1 ↔ 1	GL344008.1(5282-21432)
African clawed frog (Xenopus laevis)	Amphibia	MGC69166²	hypothetical protein MGC69166	76.93(n)		BC059347.1
zebrafish (Danio rerio)	Actinopterygii	LOC100331919¹	deoxynucleotidyltransferase terminal-interacting protein more	66.67(n) 67.49(a)		100331919 XM_002662552.2 XP_002662598.2
worm (Caenorhabditis elegans)	Secernentea	saeg-2⁶	Uncharacterized protein T23G5.6	23(a)	1 ↔ 1	III(9240288-9242417)

ENSEMBL Gene Tree for DNTTIP1 (if available)
TreeFam Gene Tree for DNTTIP1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(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

SNP ID	Valid	Clinical significance	Chr 20 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs146157597^1,2		--	44418702(+)	`GGACTA/GGGGAT`	2	--	int¹ us2k¹		0	--	--	--	--
rs79299850^1,2	C,	--	44418810(+)	`AAAATT/GCCTGG`	2	--	int¹ us2k¹		1		NA	120
rs74740895^1,2	C	--	44418832(+)	`GGGACC/TTGTGA`	2	--	us2k¹ int¹		0	--	--	--	--
rs73122760^1,2		--	44418838(+)	`TGTGAC/TGGGAG`	2	--	int¹ us2k¹		0	--	--	--	--
rs193072745^1,2		--	44418895(+)	`AACCTA/GGTGGG`	2	--	us2k¹ int¹		0	--	--	--	--
rs3746494^1,2	C,F,A,H,	--	44418946(+)	`AAAGAA/GAGCCC`	2	--	us2k¹ int¹		27		NS EA NA WA CSA	2470
rs184597899^1,2		--	44419134(+)	`CAAGGC/TGGGCA`	2	--	us2k¹ int¹		0	--	--	--	--
rs2474120^1,2		--	44419179(+)	`gccaaC/Tatggc`	2	--	int¹ us2k¹		0	--	--	--	--
rs142062171^1,2		--	44419225(+)	`TGGGCA/GTGCTG`	2	--	us2k¹ int¹		0	--	--	--	--
rs151132608^1,2		--	44419230(+)	`ATGCTA/GGTGCA`	2	--	us2k¹ int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for DNTTIP1 (44420576 - 44440066 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for DNTTIP1: --

SABiosciences Cancer Mutation PCR Assays

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(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

DNTTIP1 for disorders About MalaCards

DNTTIP1 for disorders About GeneDecksing

OMIM gene information: 611388 OMIM disorders: --

Export disorders for DNTTIP1 gene to outside databases

(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 DNTTIP1 gene, integrated from 9 sources (see all 17):
(articles sorted by number of sources associating them with DNTTIP1)

Utopia: connect your pdf to the dynamic
world of online information

Terminal deoxynucleotidyltransferase directly interacts with a novel nuclear protein that is homologous to p65. (PubMed id 11473582)^{1, 2, 3} Yamashita N.... Koiwai O. (2001)
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)
The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)^{1, 2} Deloukas P....Rogers J. (2001)
Identification of functional domains in TdIF1 and its inhibitory mechanism for TdT activity. (PubMed id 17663723)^{1, 9} Kubota T....Koiwai O. (2007)
TdT interacting factor 1 enhances TdT ubiquitylation through recruitment of BPOZ-2 into nucleus from cytoplasm. (PubMed id 19930467)^{1, 9} Hayano T....Koiwai O. (2009)
Chemoproteomics profiling of HDAC inhibitors reveals selective targeting of HDAC complexes. (PubMed id 21258344)¹ Bantscheff M....Drewes G. (2011)
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)
System-wide changes to SUMO modifications in response to heat shock. (PubMed id 19471022)¹ Golebiowski F....Hay R.T. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 116092	HGNC: 16160	AceView: DNTTIP1	Ensembl:ENSG00000101457	euGenes: HUgn116092
ECgene: DNTTIP1	H-InvDB: DNTTIP1

(According to HUGE)
About This Section

(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 DNTTIP1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for DNTTIP1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for DNTTIP1 gene:
Search GeneIP for patents involving DNTTIP1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(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),
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About This Section


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	OriGene Antibodies for DNTTIP1		OriGene shRNA RFP for DNTTIP1
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DNTTIP1		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DNTTIP1
	OriGene Protein Over-expression Lysate for DNTTIP1		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for DNTTIP1		OriGene 3'-UTR Clone for DNTTIP1
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	OriGene Purified Protein for DNTTIP1		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DNTTIP1
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DNTTIP1
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	GenScript Custom Purified and Recombinant Proteins Services for DNTTIP1		GenScript cDNA clones with any tag delivered in your preferred vector for DNTTIP1
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	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DNTTIP1

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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DNTTIP1 Gene

deoxynucleotidyltransferase, terminal, interacting protein...

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DNTTIP1 Gene

deoxynucleotidyltransferase, terminal, interacting protein...

Aliasesfor DNTTIP1 gene

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