TIMM8A cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	TIMM8A
Entrez Gene ID	1678
Full Name	translocase of inner mitochondrial membrane 8A
Synonyms	DDP,DDP1,DFN1,MTS,TIM8
General protein information	Preferred Names translocase of inner mitochondrial membrane 8A Names mitochondrial import inner membrane translocase subunit Tim8 A X-linked deafness dystonia protein deafness dystonia protein 1 deafness/dystonia peptide translocase of inner mitochondrial membrane 8 homolog A
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: X Map Location: Xq22.1
Summary	This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2009].
Disorder MIM:	300356
Disorder Html:	Mohr-Tranebjaerg syndrome, 304700 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_001145951.1	NP_001139423.1	mitochondrial import inner membrane translocase subunit Tim8 A isoform 2
NM_001145951.2	NP_001139423.1	mitochondrial import inner membrane translocase subunit Tim8 A isoform 2
NM_004085.4	NP_004076.1	mitochondrial import inner membrane translocase subunit Tim8 A isoform 1
NM_004085.3	NP_004076.1	mitochondrial import inner membrane translocase subunit Tim8 A isoform 1

Pathways from BioSystems

Homologies

Homo sapiens (human)	TIMM8A	NP_004076.1
Rattus norvegicus (Norway rat)	Timm8a1	NP_445822.1
Bos taurus (cattle)	TIMM8A	NP_001029652.1
Pan troglodytes (chimpanzee)	TIMM8A	XP_001139457.1
Canis lupus familiaris (dog)	TIMM8A	NP_001239296.1
Mus musculus (house mouse)	Timm8a1	NP_038926.1
Danio rerio (zebrafish)	timm8a	NP_001003637.1
Macaca mulatta (Rhesus monkey)	TIMM8A	XP_001092722.1
Gallus gallus (chicken)	TIMM8A	XP_420185.1
Xenopus tropicalis (tropical clawed frog)	timm8a	XP_002940448.1

Gene Ontology
Bibliography

Related articles in PubMed

Widespread macromolecular interaction perturbations in human genetic disorders.
Sahni N, Yi S, Taipale M, Fuxman Bass JI, Coulombe-Huntington J, Yang F, Peng J, Weile J, Karras GI, Wang Y, Kovács IA, Kamburov A, Krykbaeva I, Lam MH, Tucker G, Khurana V, Sharma A, Liu YY, Yachie N, Zhong Q, Shen Y, Palagi A, San-Miguel A, Fan C, Balcha D, Dricot A, Jordan DM, Walsh JM, Shah AA, Yang X, Stoyanova AK, Leighton A, Calderwood MA, Jacob Y, Cusick ME, Salehi-Ashtiani K, Whitesell LJ, Sunyaev S, Berger B, Barabási AL, Charloteaux B, Hill DE, Hao T, Roth FP, Xia Y, Walhout AJM, Lindquist S, Vidal M
Cell161(3)647-660(2015 Apr)

The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
Kojovic M, Pareés I, Lampreia T, Pienczk-Reclawowicz K, Xiromerisiou G, Rubio-Agusti I, Kramberger M, Carecchio M, Alazami AM, Brancati F, Slawek J, Pirtosek Z, Valente EM, Alkuraya FS, Edwards MJ, Bhatia KP
Movement disorders : official journal of the Movement Disorder Society28(6)795-803(2013 Jun)

Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology.
Engl G, Florian S, Tranebjærg L, Rapaport D
Human molecular genetics21(2)287-99(2012 Jan)

Phosphoproteome analysis of functional mitochondria isolated from resting human muscle reveals extensive phosphorylation of inner membrane protein complexes and enzymes.
Zhao X, León IR, Bak S, Mogensen M, Wrzesinski K, Højlund K, Jensen ON
Molecular & cellular proteomics : MCP10(1)M110.000299(2011 Jan)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

The following TIMM8A gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the TIMM8A cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1⁺/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

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***CloneID	Accession No.	Definition	**Vector	*Turnaround time	Price (USD)
OHu26443	NM_001145951.2 Latest version!	Homo sapiens translocase of inner mitochondrial membrane 8A (TIMM8A), transcript variant 2, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	9-11	$69.30 $99.00
OHu27097	NM_004085.4 Latest version!	Homo sapiens translocase of inner mitochondrial membrane 8A (TIMM8A), transcript variant 1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	5+	$69.30 $99.00
View Old Accession Versions >>
OHu26443	NM_001145951.1	Homo sapiens translocase of inner mitochondrial membrane 8A (TIMM8A), transcript variant 2, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	9-11	$69.30 $99.00
OHu27097	NM_004085.3	Homo sapiens translocase of inner mitochondrial membrane 8A (TIMM8A), transcript variant 1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	5+	$69.30 $99.00
Hide Old Accession Versions >>

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** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.

Reference Sequences (Refseq)

TIMM8A ( NM_001145951.1 ) cDNA ORF clone, Homo sapiens(human) -> NP_001139423.1 Homo sapiens translocase of inner mitochondrial membrane 8A (TIMM8A), transcript variant 2, mRNA.

Price & Availability↑

CloneID	OHu26443
Clone ID Related Accession (Same CDS sequence)	NM_001145951.1 , NM_001145951.2
Accession Version	NM_001145951.1	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 147bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	1550505600000
Organism	Homo sapiens(human)
Product	mitochondrial import inner membrane translocase subunit Tim8 A isoform 2
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BM467820.1 and BQ013177.1. Transcript Variant: This variant (2) uses an alternate exon for its 3' terminus, compared to variant 1, which results in an isoform (2) with a shorter and distinct C-terminus, compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BM467820.1, SRR1163655.196016.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END##

1
61
121

ATGGATTCCT CCTCCTCTTC CTCCGCGGCG GGTTTGGGTG CAGTGGACCC GCAGTTGCAG 
CATTTCATCG AGGTAGAGAC TCAAAAGCAG CGCTTCCAGC AGCTGGTGCA CCAGATGACT 
GAACTTTGTT GGGTTCCTGT GGCCTAG

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_001139423.1
CDS	57..203
Translation	MDSSSSSSAAGLGAVDPQLQHFIEVETQKQRFQQLVHQMTELCWVPVA

Target ORF information:

RefSeq Version	NM_001145951.1
Organism	Homo sapiens(human)
Definition	Homo sapiens translocase of inner mitochondrial membrane 8A (TIMM8A), transcript variant 2, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_001145951.1

ORF Insert Sequence:

1
61
121

ATGGATTCCT CCTCCTCTTC CTCCGCGGCG GGTTTGGGTG CAGTGGACCC GCAGTTGCAG 
CATTTCATCG AGGTAGAGAC TCAAAAGCAG CGCTTCCAGC AGCTGGTGCA CCAGATGACT 
GAACTTTGTT GGGTTCCTGT GGCCTAG

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

TIMM8A ( NM_001145951.2 ) cDNA ORF clone, Homo sapiens(human) -> NP_001139423.1 Homo sapiens translocase of inner mitochondrial membrane 8A (TIMM8A), transcript variant 2, mRNA.

Price & Availability↑

CloneID	OHu26443
Clone ID Related Accession (Same CDS sequence)	NM_001145951.1 , NM_001145951.2
Accession Version	NM_001145951.2 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 147bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	1569513600000
Organism	Homo sapiens(human)
Product	mitochondrial import inner membrane translocase subunit Tim8 A isoform 2
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL035422.12, BM467820.1 and BQ013177.1. On May 31, 2019 this sequence version replaced NM_001145951.1. Transcript Variant: This variant (2) uses an alternate exon for its 3' terminus, compared to variant 1, which results in an isoform (2) with a shorter and distinct C-terminus, compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.113564.1, SRR1660807.128470.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END##

1
61
121

ATGGATTCCT CCTCCTCTTC CTCCGCGGCG GGTTTGGGTG CAGTGGACCC GCAGTTGCAG 
CATTTCATCG AGGTAGAGAC TCAAAAGCAG CGCTTCCAGC AGCTGGTGCA CCAGATGACT 
GAACTTTGTT GGGTTCCTGT GGCCTAG

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_001139423.1
CDS	79..225
Translation	MDSSSSSSAAGLGAVDPQLQHFIEVETQKQRFQQLVHQMTELCWVPVA

Target ORF information:

RefSeq Version	NM_001145951.2
Organism	Homo sapiens(human)
Definition	Homo sapiens translocase of inner mitochondrial membrane 8A (TIMM8A), transcript variant 2, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_001145951.2

ORF Insert Sequence:

1
61
121

ATGGATTCCT CCTCCTCTTC CTCCGCGGCG GGTTTGGGTG CAGTGGACCC GCAGTTGCAG 
CATTTCATCG AGGTAGAGAC TCAAAAGCAG CGCTTCCAGC AGCTGGTGCA CCAGATGACT 
GAACTTTGTT GGGTTCCTGT GGCCTAG

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

TIMM8A ( NM_004085.4 ) cDNA ORF clone, Homo sapiens(human) -> NP_004076.1 Homo sapiens translocase of inner mitochondrial membrane 8A (TIMM8A), transcript variant 1, mRNA.

Price & Availability↑

CloneID	OHu27097
Clone ID Related Accession (Same CDS sequence)	NM_004085.4 , NM_004085.3
Accession Version	NM_004085.4 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 294bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	1569340800000
Organism	Homo sapiens(human)
Product	mitochondrial import inner membrane translocase subunit Tim8 A isoform 1
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from CN410182.1, BC006994.1 and AW204693.1. This sequence is a reference standard in the RefSeqGene project. On Nov 22, 2018 this sequence version replaced NM_004085.3. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.114906.1, SRR1803613.248108.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000372902.4/ ENSP00000361993.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## COMPLETENESS: full length.

ATGGATTCCT CCTCCTCTTC CTCCGCGGCG GGTTTGGGTG CAGTGGACCC GCAGTTGCAG 
CATTTCATCG AGGTAGAGAC TCAAAAGCAG CGCTTCCAGC AGCTGGTGCA CCAGATGACT 
GAACTTTGTT GGGAGAAGTG CATGGACAAG CCTGGGCCAA AGTTGGACAG TCGGGCTGAG 
GCCTGTTTTG TGAACTGCGT TGAGCGCTTC ATTGATACAA GCCAGTTCAT CTTGAATCGA 
CTGGAACAGA CCCAGAAATC CAAGCCAGTT TTCTCAGAAA GCCTTTCTGA CTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_004076.1
CDS	79..372
Translation	MDSSSSSSAAGLGAVDPQLQHFIEVETQKQRFQQLVHQMTELCWEKCMDKPGPKLDSRAEACFVNCVERFIDTSQFILNRLEQTQKSKPVFSESLSD

Target ORF information:

RefSeq Version	NM_004085.4
Organism	Homo sapiens(human)
Definition	Homo sapiens translocase of inner mitochondrial membrane 8A (TIMM8A), transcript variant 1, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_004085.4

ORF Insert Sequence:

ATGGATTCCT CCTCCTCTTC CTCCGCGGCG GGTTTGGGTG CAGTGGACCC GCAGTTGCAG 
CATTTCATCG AGGTAGAGAC TCAAAAGCAG CGCTTCCAGC AGCTGGTGCA CCAGATGACT 
GAACTTTGTT GGGAGAAGTG CATGGACAAG CCTGGGCCAA AGTTGGACAG TCGGGCTGAG 
GCCTGTTTTG TGAACTGCGT TGAGCGCTTC ATTGATACAA GCCAGTTCAT CTTGAATCGA 
CTGGAACAGA CCCAGAAATC CAAGCCAGTT TTCTCAGAAA GCCTTTCTGA CTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

TIMM8A ( NM_004085.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_004076.1 Homo sapiens translocase of inner mitochondrial membrane 8A (TIMM8A), transcript variant 1, mRNA.

Price & Availability↑

CloneID	OHu27097
Clone ID Related Accession (Same CDS sequence)	NM_004085.4 , NM_004085.3
Accession Version	NM_004085.3	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 294bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	1506787200000
Organism	Homo sapiens(human)
Product	mitochondrial import inner membrane translocase subunit Tim8 A isoform 1
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from CN410182.1, BC006994.1 and AW204693.1. This sequence is a reference standard in the RefSeqGene project. On Mar 21, 2009 this sequence version replaced NM_004085.2. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.106141.1, SRR1803613.248108.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

ATGGATTCCT CCTCCTCTTC CTCCGCGGCG GGTTTGGGTG CAGTGGACCC GCAGTTGCAG 
CATTTCATCG AGGTAGAGAC TCAAAAGCAG CGCTTCCAGC AGCTGGTGCA CCAGATGACT 
GAACTTTGTT GGGAGAAGTG CATGGACAAG CCTGGGCCAA AGTTGGACAG TCGGGCTGAG 
GCCTGTTTTG TGAACTGCGT TGAGCGCTTC ATTGATACAA GCCAGTTCAT CTTGAATCGA 
CTGGAACAGA CCCAGAAATC CAAGCCAGTT TTCTCAGAAA GCCTTTCTGA CTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_004076.1
CDS	306..599
Translation	MDSSSSSSAAGLGAVDPQLQHFIEVETQKQRFQQLVHQMTELCWEKCMDKPGPKLDSRAEACFVNCVERFIDTSQFILNRLEQTQKSKPVFSESLSD

Target ORF information:

RefSeq Version	NM_004085.3
Organism	Homo sapiens(human)
Definition	Homo sapiens translocase of inner mitochondrial membrane 8A (TIMM8A), transcript variant 1, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_004085.3

ORF Insert Sequence:

ATGGATTCCT CCTCCTCTTC CTCCGCGGCG GGTTTGGGTG CAGTGGACCC GCAGTTGCAG 
CATTTCATCG AGGTAGAGAC TCAAAAGCAG CGCTTCCAGC AGCTGGTGCA CCAGATGACT 
GAACTTTGTT GGGAGAAGTG CATGGACAAG CCTGGGCCAA AGTTGGACAG TCGGGCTGAG 
GCCTGTTTTG TGAACTGCGT TGAGCGCTTC ATTGATACAA GCCAGTTCAT CTTGAATCGA 
CTGGAACAGA CCCAGAAATC CAAGCCAGTT TTCTCAGAAA GCCTTTCTGA CTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

PubMed

Widespread macromolecular interaction perturbations in human genetic disorders.
Cell161(3)647-660(2015 Apr)
Sahni N,Yi S,Taipale M,Fuxman Bass JI,Coulombe-Huntington J,Yang F,Peng J,Weile J,Karras GI,Wang Y,Kovács IA,Kamburov A,Krykbaeva I,Lam MH,Tucker G,Khurana V,Sharma A,Liu YY,Yachie N,Zhong Q,Shen Y,Palagi A,San-Miguel A,Fan C,Balcha D,Dricot A,Jordan DM,Walsh JM,Shah AA,Yang X,Stoyanova AK,Leighton A,Calderwood MA,Jacob Y,Cusick ME,Salehi-Ashtiani K,Whitesell LJ,Sunyaev S,Berger B,Barabási AL,Charloteaux B,Hill DE,Hao T,Roth FP,Xia Y,Walhout AJM,Lindquist S,Vidal M

The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
Movement disorders : official journal of the Movement Disorder Society28(6)795-803(2013 Jun)
Kojovic M,Pareés I,Lampreia T,Pienczk-Reclawowicz K,Xiromerisiou G,Rubio-Agusti I,Kramberger M,Carecchio M,Alazami AM,Brancati F,Slawek J,Pirtosek Z,Valente EM,Alkuraya FS,Edwards MJ,Bhatia KP

Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology.
Human molecular genetics21(2)287-99(2012 Jan)
Engl G,Florian S,Tranebjærg L,Rapaport D

Phosphoproteome analysis of functional mitochondria isolated from resting human muscle reveals extensive phosphorylation of inner membrane protein complexes and enzymes.
Molecular & cellular proteomics : MCP10(1)M110.000299(2011 Jan)
Zhao X,León IR,Bak S,Mogensen M,Wrzesinski K,Højlund K,Jensen ON

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TIMM8A cDNA ORF clone, Homo sapiens(human)

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gRNAs

Related articles in PubMed

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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