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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

LRRIQ1 Gene

protein-coding GIFtS: 41
GCID: GC12P085430

leucine-rich repeats and IQ motif containing 1

Search for LRRIQ1
in

MalaCards

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
Leucine-Rich Repeats And IQ Motif Containing 1¹ ²
KIAA1801¹ ³
FLJ12303¹
Leucine-Rich Repeat And IQ Domain-Containing Protein 1²

External Ids:	HGNC: 25708¹	Entrez Gene: 84125²	Ensembl: ENSG00000133640⁷	UniProtKB: Q96JM4³

Export aliases for LRRIQ1 gene to outside databases

Previous GC identifers: GC12P083934 GC12P082487

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

(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_000012.11 NC_018923.1 NT_029419.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the LRRIQ1 gene promoter:
Max1 POU3F2 (N-Oct-5a) POU6F1 (c2) POU3F2 C/EBPalpha POU2F1 POU2F1a c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: LRRIQ1 promoter sequence

Search SABiosciences Chromatin IP Primers for LRRIQ1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LRRIQ1

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

Entrez Gene cytogenetic band: 12q21.31 Ensembl cytogenetic band: 12q21.31 HGNC cytogenetic band: 12q21

LRRIQ1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LRRIQ1 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12P085430: view genomic region (about GC identifiers)

Start:	85,430,092 bp from pter	End:	85,657,002 bp from pter
Size:	226,911 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: LRIQ1_HUMAN, Q96JM4 (See protein sequence)

Recommended Name: Leucine-rich repeat and IQ domain-containing protein 1

Size: 1722 amino acids; 199300 Da

Sequence caution: Sequence=AAH93088.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A

sequence; Sequence=BAB47430.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Sequence=BAB47430.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact;

Secondary accessions: Q567P4 Q9BS17 Q9HA36

Alternative splicing: 2 isoforms: Q96JM4-4 Q96JM4-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for LRRIQ1: NX_Q96JM4

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q96JM4

LRRIQ1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001073379.1

ENSEMBL proteins:

ENSP00000376906 ENSP00000376910 ENSP00000436898 ENSP00000435918 ENSP00000431756

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

LRRIQ1 for domains About GeneDecksing

3 InterPro domains/families:

IPR001611 Leu-rich_rpt

IPR025875 Leu-rich_rpt_4

IPR000048 IQ_motif_EF-hand-BS

Graphical View of Domain Structure for InterPro Entry Q96JM4

ProtoNet protein and cluster: Q96JM4

UniProtKB/Swiss-Prot: LRIQ1_HUMAN, Q96JM4

Similarity: Contains 3 IQ domains

Similarity: Contains 10 LRR (leucine-rich) repeats

Similarity: Contains 1 LRRCT domain

(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

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		hsa-miR-32* hsa-miR-590-3p hsa-miR-758
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In Situ Assay
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(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:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for LRRIQ1

1 Interacting protein for LRRIQ1 (Q96JM4³) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HES4	Q9HCC6³	I2D: score=1

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 LRRIQ1
Search CenterWatch for drugs/clinical trials and news about LRRIQ1 / LRIQ1

(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,
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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 LRRIQ1 gene (2 alternative transcripts):

NM_032165.3 NM_001079910.1

Unigene Cluster for LRRIQ1:

Leucine-rich repeats and IQ motif containing 1

Hs.402200 [show with all ESTs]

Unigene Representative Sequence: NM_001079910

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

ENST00000525971(uc001taa.1 uc021rbo.1) ENST00000529408(uc001tad.3)

ENST00000393212 ENST00000393217(uc001tac.3) ENST00000533414 ENST00000528777

ENST00000526363

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		hsa-miR-32* hsa-miR-590-3p hsa-miR-758
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Additional cDNA sequence:

AB058704.1 AK022365.1 AK307799.1 BC093088.1

8 DOTS entries:

DT.97837377 DT.100742137 DT.99982942 DT.40128110 DT.121196209 DT.92417704 DT.40122241 DT.91667203

24/37 AceView cDNA sequences (see all 37):

AA905020 AW196464 CB250503 AI150033 AI350417 CB243407 AI655962 NM_032165

BX116234 BU608190 AA401494 BE738667 BU677485 N40969 BF114953 BX104440

AK022365 AA400241 AU122206 BU569678 BX101464 BU677204 AB058704 BC005399

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for LRRIQ1 About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11
SP1:
SP2:															-
SP3:

ECgene alternative splicing isoforms for LRRIQ1

(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

LRRIQ1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGAAAATATG

About this image

LRRIQ1 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

Posterior foregut-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See LRRIQ1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for LRRIQ1

SOURCE GeneReport for Unigene cluster: Hs.402200

SABiosciences Custom PCR Arrays for LRRIQ1

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In Situ
Assay Products:

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(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 LRRIQ1 gene from 4/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Lrriq1^{1 , 5}	leucine-rich repeats and IQ motif containing 1^{1, 5}	72.16(n)¹ 59.57(a)¹		10 (53.65 cM)⁵ 74978¹ NM_001163559.1¹ NP_001157031.1¹ 103214399⁵
chicken (Gallus gallus)	Aves	LRRIQ1¹	leucine-rich repeats and IQ motif containing 1	57.13(n) 40.79(a)		417882 XM_416125.3 XP_416125.3
lizard (Anolis carolinensis)	Reptilia	LRRIQ1⁶	--	41(a)	1 ↔ 1	5(34921791-34974092)
zebrafish (Danio rerio)	Actinopterygii	lrriq1¹	leucine-rich repeats and IQ motif containing 1	49.4(n) 36.73(a)		565257 XM_003200444.1 XP_003200492.1

ENSEMBL Gene Tree for LRRIQ1 (if available)
TreeFam Gene Tree for LRRIQ1 (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 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs75325032^1,2	C,	other	85500316(+)	`GCCATA/GAAATG`	2	I M	mis¹		0	--	--	--	--
rs141769365^1,2		--	85428122(+)	`AAATGA/TTTTCA`	2	--	us2k¹ int¹		0	--	--	--	--
rs150762274^1,2		--	85428162(+)	`CTTGTC/TAGATA`	2	--	us2k¹ int¹		0	--	--	--	--
rs13377881^1,2	C,F,H,	--	85428374(+)	`CCAACA/TTACTC`	2	--	us2k¹ int¹		7		NS EA CSA WA NA	658
rs139204755^1,2		--	85428394(+)	`TTACCA/GTTTCT`	2	--	us2k¹ int¹		0	--	--	--	--
rs1144678^1,2	C,H	--	85428628(+)	`TTTATC/GTTCAG`	2	--	int¹ us2k¹		4		NS EA	414
rs149945044^1,2		--	85429002(+)	`CTGCAC/GTCCAG`	2	--	us2k¹ int¹		0	--	--	--	--
rs200849758^1,2		--	85429025(+)	`GGGAG-/GTACCCT`	2	--	us2k¹ int¹		0	--	--	--	--
rs76165724^1,2	F,	--	85429124(+)	`TTGAGC/GATGGA`	2	--	us2k¹ int¹		1		NA	120
rs79656740^1,2	C	--	85429235(+)	`TTTAAA/TATGAG`	2	--	us2k¹ int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for LRRIQ1 (85430092 - 85657002 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for LRRIQ1
2 Indels: 58600 101576

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

LRRIQ1 for disorders About MalaCards

LRRIQ1 for disorders About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: LRRIQ1 (1 document)

Export disorders for LRRIQ1 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 LRRIQ1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with LRRIQ1)

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

Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)^{1, 2, 3} Nagase T.... Ohara O. (2001)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
The finished DNA sequence of human chromosome 12. (PubMed id 16541075)² Scherer S.E.... Gibbs R.A. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)¹ Bonaldo M.F.... Soares M.B. (1996)

(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: 84125	HGNC: 25708	AceView: LRRIQ1	Ensembl:ENSG00000133640	euGenes: HUgn84125
ECgene: LRRIQ1	H-InvDB: LRRIQ1

(According to HUGE)
About This Section

HUGE: KIAA1801

(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 LRRIQ1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for LRRIQ1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for LRRIQ1 gene:
Search GeneIP for patents involving LRRIQ1

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),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


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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

Hot genes Disease genes LRRIQ1 gene at Home site.

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LRRIQ1 Gene

leucine-rich repeats and IQ motif containing 1

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LRRIQ1 Gene

leucine-rich repeats and IQ motif containing 1

Aliasesfor LRRIQ1 gene

Summariesfor LRRIQ1 gene

Genomic Viewsfor LRRIQ1 gene

Proteinsfor LRRIQ1 gene

Protein Domains /Familiesfor LRRIQ1 gene

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for LRRIQ1 gene

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for LRRIQ1 gene

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for LRRIQ1 gene

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for LRRIQ1 gene

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for LRRIQ1 gene

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for LRRIQ1 gene

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for LRRIQ1 gene

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for LRRIQ1 gene

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for LRRIQ1 gene

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for LRRIQ1 gene

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for LRRIQ1 gene

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for LRRIQ1 gene

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for LRRIQ1 gene

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for LRRIQ1 gene

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for LRRIQ1 gene

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for LRRIQ1 gene