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2025-05-09 17:28:56, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_130445 5398 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript
variant 2, mRNA.
ACCESSION NM_130445
VERSION NM_130445.2 GI:110611232
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 5398)
AUTHORS Li,M., Liu,F., Sun,P., Gao,Y., Chen,H., Liu,H., Wang,M., Chen,J.
and Zhao,Y.
TITLE Correlations between serum levels of vascular endothelial growth
factor and endostatin with clinical pathological characteristics of
patients with gastrointestinal cancers
JOURNAL Hepatogastroenterology 59 (118), 1865-1868 (2012)
PUBMED 22819906
REMARK GeneRIF: Report pre/postoperative endostatin levels in surgically
treated gastrointestinal cancers.
REFERENCE 2 (bases 1 to 5398)
AUTHORS Sunshine,S.B., Dallabrida,S.M., Durand,E., Ismail,N.S., Bazinet,L.,
Birsner,A.E., Sohn,R., Ikeda,S., Pu,W.T., Kulke,M.H.,
Javaherian,K., Zurakowski,D., Folkman,J.M. and Rupnick,M.
TITLE Endostatin lowers blood pressure via nitric oxide and prevents
hypertension associated with VEGF inhibition
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 109 (28), 11306-11311 (2012)
PUBMED 22733742
REMARK GeneRIF: Endostatin lowers blood pressure via nitric oxide and
prevents hypertension associated with VEGF inhibition
REFERENCE 3 (bases 1 to 5398)
AUTHORS Melville SA, Buros J, Parrado AR, Vardarajan B, Logue MW, Shen L,
Risacher SL, Kim S, Jun G, DeCarli C, Lunetta KL, Baldwin CT,
Saykin AJ and Farrer LA.
CONSRTM Alzheimer's Disease Neuroimaging Initiative
TITLE Multiple loci influencing hippocampal degeneration identified by
genome scan
JOURNAL Ann. Neurol. 72 (1), 65-75 (2012)
PUBMED 22745009
REFERENCE 4 (bases 1 to 5398)
AUTHORS Chen,Y., Liang,B., Zhao,Y.J., Wang,S.C., Fan,Y.B. and Wu,G.P.
TITLE Transcription expression and clinical significance of vascular
endothelial growth factor mRNA and endostatin mRNA in pleural
effusions of patients with lung cancer
JOURNAL Diagn. Cytopathol. 40 (4), 287-291 (2012)
PUBMED 22431315
REMARK GeneRIF: The detection of VEGF mRNA and endostatin mRNA appears to
be suitable for distinguishing carcinoma cells from reactive
mesothelial cells in pleural effusions, they could be useful to
diagnose the pleural micrometastasis.
REFERENCE 5 (bases 1 to 5398)
AUTHORS Wu,X., Wu,J., Xin,Z., Wang,H., Zhu,X., Pan,L., Li,Z., Li,H. and
Liu,Y.
TITLE A 3' UTR SNP in COL18A1 is associated with susceptibility to HBV
related hepatocellular carcinoma in Chinese: three independent
case-control studies
JOURNAL PLoS ONE 7 (3), E33855 (2012)
PUBMED 22461898
REMARK GeneRIF: Findings indicate that COL18A1 rs7499 may contribute to
the risk of Hepatocellular carcinoma (HCC) in Han Chinese.
REFERENCE 6 (bases 1 to 5398)
AUTHORS Ding,Y.H., Javaherian,K., Lo,K.M., Chopra,R., Boehm,T.,
Lanciotti,J., Harris,B.A., Li,Y., Shapiro,R., Hohenester,E.,
Timpl,R., Folkman,J. and Wiley,D.C.
TITLE Zinc-dependent dimers observed in crystals of human endostatin
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 95 (18), 10443-10448 (1998)
PUBMED 9724722
REFERENCE 7 (bases 1 to 5398)
AUTHORS Saarela,J., Ylikarppa,R., Rehn,M., Purmonen,S. and Pihlajaniemi,T.
TITLE Complete primary structure of two variant forms of human type XVIII
collagen and tissue-specific differences in the expression of the
corresponding transcripts
JOURNAL Matrix Biol. 16 (6), 319-328 (1998)
PUBMED 9503365
REFERENCE 8 (bases 1 to 5398)
AUTHORS Sertie,A.L., Quimby,M., Moreira,E.S., Murray,J., Zatz,M.,
Antonarakis,S.E. and Passos-Bueno,M.R.
TITLE A gene which causes severe ocular alterations and occipital
encephalocele (Knobloch syndrome) is mapped to 21q22.3
JOURNAL Hum. Mol. Genet. 5 (6), 843-847 (1996)
PUBMED 8776601
REFERENCE 9 (bases 1 to 5398)
AUTHORS Oh,S.P., Kamagata,Y., Muragaki,Y., Timmons,S., Ooshima,A. and
Olsen,B.R.
TITLE Isolation and sequencing of cDNAs for proteins with multiple
domains of Gly-Xaa-Yaa repeats identify a distinct family of
collagenous proteins
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 91 (10), 4229-4233 (1994)
PUBMED 8183893
REFERENCE 10 (bases 1 to 5398)
AUTHORS Oh,S.P., Warman,M.L., Seldin,M.F., Cheng,S.D., Knoll,J.H.,
Timmons,S. and Olsen,B.R.
TITLE Cloning of cDNA and genomic DNA encoding human type XVIII collagen
and localization of the alpha 1(XVIII) collagen gene to mouse
chromosome 10 and human chromosome 21
JOURNAL Genomics 19 (3), 494-499 (1994)
PUBMED 8188291
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from CN389577.1, BC063833.1 and
AF018082.1.
This sequence is a reference standard in the RefSeqGene project.
On Jul 20, 2006 this sequence version replaced gi:18765747.
Summary: This gene encodes the alpha chain of type XVIII collagen.
This collagen is one of the multiplexins, extracellular matrix
proteins that contain multiple triple-helix domains (collagenous
domains) interrupted by non-collagenous domains. The
proteolytically produced C-terminal fragment of type XVIII collagen
is endostatin, a potent antiangiogenic protein. Mutations in this
gene are associated with Knobloch syndrome. The main features of
this syndrome involve retinal abnormalities, so type XVIII collagen
may play an important role in retinal structure and in neural tube
closure. Alternatively spliced transcript variants encoding
different isoforms have been found for this gene. [provided by
RefSeq, Sep 2008].
Transcript Variant: This variant (2) is generated from a more
distal promoter. It has an alternate 5' UTR and 5' CDS, as compared
to variant 3. The resulting isoform (2) has a shorter and different
N-terminus, as compared to isoform 3.
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 :: AF018082.1, BC063833.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025083 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-343 CN389577.1 46-388
344-3486 BC063833.1 330-3472
3487-5398 AF018082.1 3497-5408
FEATURES Location/Qualifiers
source 1..5398
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="21"
/map="21q22.3"
gene 1..5398
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/note="collagen, type XVIII, alpha 1"
/db_xref="GeneID:80781"
/db_xref="HGNC:2195"
/db_xref="MIM:120328"
exon 1..60
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
CDS 50..4060
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/note="isoform 2 precursor is encoded by transcript
variant 2; endostatin; collagen alpha-1(XVIII) chain;
antiangiogenic agent; multi-functional protein MFP"
/codon_start=1
/product="collagen alpha-1(XVIII) chain isoform 2
precursor"
/protein_id="NP_569712.2"
/db_xref="GI:110611233"
/db_xref="CCDS:CCDS42971.1"
/db_xref="GeneID:80781"
/db_xref="HGNC:2195"
/db_xref="MIM:120328"
/translation="
MAPRCPWPWPRRRRLLDVLAPLVLLLGVRAASAEPERISEEVGLLQLLGDPPPQQVTQTDDPDVGLAYVFGPDANSGQVARYHFPSLFFRDFSLLFHIRPATEGPGVLFAITDSAQAMVLLGVKLSGVQDGHQDISLLYTEPGAGQTHTAASFRLPAFVGQWTHLALSVAGGFVALYVDCEEFQRMPLARSSRGLELEPGAGLFVAQAGGADPDKFQGVIAELKVRRDPQVSPMHCLDEEGDDSDGASGDSGSGLGDARELLREETGAALKPRLPAPPPVTTPPLAGGSSTEDSRSEEVEEQTTVASLGAQTLPGSDSVSTWDGSVRTPGGRVKEGGLKGQKGEPGVPGPPGRAGPPGSPCLPGPPGLPCPVSPLGPAGPALQTVPGPQGPPGPPGRDGTPGRDGEPGDPGEDGKPGDTGPQGFPGTPGDVGPKGDKGDPGVGERGPPGPQGPPGPPGPSFRHDKLTFIDMEGSGFGGDLEALRGPRGFPGPPGPPGVPGLPGEPGRFGVNSSDVPGPAGLPGVPGREGPPGFPGLPGPPGPPGREGPPGRTGQKGSLGEAGAPGHKGSKGAPGPAGARGESGLAGAPGPAGPPGPPGPPGPPGPGLPAGFDDMEGSGGPFWSTARSADGPQGPPGLPGLKGDPGVPGLPGAKGEVGADGVPGFPGLPGREGIAGPQGPKGDRGSRGEKGDPGKDGVGQPGLPGPPGPPGPVVYVSEQDGSVLSVPGPEGRPGFAGFPGPAGPKGNLGSKGERGSPGPKGEKGEPGSIFSPDGGALGPAQKGAKGEPGFRGPPGPYGRPGYKGEIGFPGRPGRPGMNGLKGEKGEPGDASLGFGMRGMPGPPGPPGPPGPPGTPVYDSNVFAESSRPGPPGLPGNQGPPGPKGAKGEVGPPGPPGQFPFDFLQLEAEMKGEKGDRGDAGQKGERGEPGGGGFFGSSLPGPPGPPGPRGYPGIPGPKGESIRGQPGPPGPQGPPGIGYEGRQGPPGPPGPPGPPSFPGPHRQTISVPGPPGPPGPPGPPGTMGASSGVRLWATRQAMLGQVHEVPEGWLIFVAEQEELYVRVQNGFRKVQLEARTPLPRGTDNEVAALQPPVVQLHDSNPYPRREHPHPTARPWRADDILASPPRLPEPQPYPGAPHHSSYVHLRPARPTSPPAHSHRDFQPVLHLVALNSPLSGGMRGIRGADFQCFQQARAVGLAGTFRAFLSSRLQDLYSIVRRADRAAVPIVNLKDELLFPSWEALFSGSEGPLKPGARIFSFDGKDVLRHPTWPQKSVWHGSDPNGRRLTESYCETWRTEAPSATGQASSLLGGRLLGQSAASCHHAYIVLCIENSFMTASK
"
sig_peptide 50..148
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
mat_peptide 149..4057
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/product="collagen alpha-1(XVIII) chain isoform 2"
misc_feature 248..736
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/note="Laminin G domain; Laminin G-like domains are
usually Ca++ mediated receptors that can have binding
sites for steroids, beta1 integrins, heparin, sulfatides,
fibulin-1, and alpha-dystroglycans. Proteins that contain
LamG domains serve a variety of...; Region: LamG; cl00102"
/db_xref="CDD:206838"
misc_feature <2003..2128
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/note="Collagen triple helix repeat (20 copies); Region:
Collagen; pfam01391"
/db_xref="CDD:189968"
misc_feature 3527..4039
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/note="Endostatin-like domain; the angiogenesis inhibitor
endostatin is a C-terminal fragment of collagen XV/XVIII,
a proteoglycan/collagen found in vessel walls and basement
membranes; this domain has a compact globular fold similar
to that of C-type lectins; Region: Endostatin-like;
cd00247"
/db_xref="CDD:29322"
misc_feature order(3620..3622,3647..3649,3665..3667,3692..3697,
3704..3706,3890..3895,3923..3925)
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/note="putative ligand binding site [chemical binding];
other site"
/db_xref="CDD:29322"
exon 61..155
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
exon 156..700
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 167
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:375719577"
variation 175
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:115800039"
variation 199
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="c"
/db_xref="dbSNP:190083327"
variation 205
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:373105258"
variation 215
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:375009748"
variation 225
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:200842530"
variation 235
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:372731688"
variation 236
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:377002382"
variation 266
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:370054491"
variation 275
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="c"
/db_xref="dbSNP:374084790"
variation 290
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:76658745"
variation 291
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:371058906"
variation 337
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:149578781"
variation 344
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:199918230"
variation 345
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:375588763"
variation 346
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:368228266"
variation 359
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:112855834"
variation 364
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="c"
/db_xref="dbSNP:201508976"
variation 385
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:61735014"
variation 390
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:373861758"
variation 393
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:367715239"
variation 401
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="c"
/db_xref="dbSNP:200702024"
variation 416
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:376829205"
variation 441
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:368606628"
variation 442
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:372142063"
variation 469
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:17004775"
variation 499
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:367852328"
variation 500
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:201833726"
variation 509
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:375242667"
variation 516
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:369275624"
variation 517
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:372556095"
variation 523
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:377547341"
variation 537
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:376036984"
variation 545
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:144281842"
variation 559
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:76754353"
variation 627
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:2236453"
variation 647
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:370834739"
variation 649
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:374980607"
variation 652
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:17004776"
variation 653
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:373735265"
variation 661
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:373748503"
variation 662
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:201116208"
variation 673
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:76148908"
variation 675
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="g"
/db_xref="dbSNP:376944366"
exon 701..787
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 703
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="g"
/replace="t"
/db_xref="dbSNP:369219412"
variation 709
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:189093550"
variation 716
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:60162212"
variation 720
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="c"
/db_xref="dbSNP:200168928"
variation 725
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:375001641"
variation 726
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:201095161"
variation 740
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:202012055"
variation 742
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:149772252"
variation 763
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:369721525"
exon 788..847
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 792
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:200073359"
variation 808
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:374330522"
variation 816
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="g"
/db_xref="dbSNP:368233273"
variation 820
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:371736290"
variation 824
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:376722572"
variation 825
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="g"
/replace="t"
/db_xref="dbSNP:62000965"
exon 848..977
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 850
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:145912433"
variation 852
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:375414087"
variation 853
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:368376035"
variation 877
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:2230686"
variation 885
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:375411877"
variation 886
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="g"
/db_xref="dbSNP:2230687"
variation 890
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="c"
/db_xref="dbSNP:192075600"
variation 895
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2230688"
variation 921
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:201652671"
variation 922
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:183924183"
variation 923
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="g"
/db_xref="dbSNP:138471288"
variation 936
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:372308402"
variation 946
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:376715250"
variation 960
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:200230216"
variation 961
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:141548934"
variation 964
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="g"
/replace="t"
/db_xref="dbSNP:17338853"
variation 969
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:200882031"
variation 974
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:369289615"
variation 975
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="g"
/db_xref="dbSNP:372726135"
exon 978..1054
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 1011
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:372492704"
variation 1019
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:375058072"
variation 1046
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:367882523"
exon 1055..1270
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 1057
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:372133935"
variation 1058
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:76547444"
variation 1061
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:369413748"
variation 1092
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:372859456"
variation 1100
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:370176315"
variation 1106
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:369114408"
variation 1107
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:373030953"
variation 1121
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="g"
/db_xref="dbSNP:62000458"
variation 1145
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:377028409"
variation 1155
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:371330320"
variation 1186
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:374344376"
variation 1192
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:2230689"
variation 1243
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:370965213"
variation 1252
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:375400196"
variation 1261
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:367951949"
variation 1264
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:370283993"
variation 1270
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:368902481"
exon 1271..1297
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 1273
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="g"
/db_xref="dbSNP:13046486"
variation 1274
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:200553372"
variation 1297
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:185296216"
exon 1298..1360
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 1303
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:368594049"
variation 1306
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="c"
/db_xref="dbSNP:183085141"
variation 1310
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:375265466"
variation 1315
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:113540632"
variation 1324
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1131100"
variation 1339
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1131101"
variation 1341
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:201414473"
variation 1354
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="c"
/db_xref="dbSNP:1131102"
exon 1361..1447
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 1372
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:201380467"
variation 1391
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:373670175"
variation 1436
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:376357877"
variation 1439
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:61738822"
exon 1448..1501
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 1477
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:2236467"
variation 1478
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:375852929"
variation 1484
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:369917403"
variation 1501
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="g"
/replace="t"
/db_xref="dbSNP:373106775"
exon 1502..1660
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 1509
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:371292624"
variation 1532
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:375739796"
variation 1556
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:368194132"
variation 1558
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:112723616"
variation 1559
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:375045387"
variation 1584
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:367836626"
variation 1589
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:79292579"
variation 1591
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:200106008"
variation 1596..1597
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace=""
/replace="c"
/db_xref="dbSNP:35603970"
variation 1598
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:368600244"
variation 1604
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="g"
/replace="t"
/db_xref="dbSNP:61737706"
variation 1606
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:372703675"
variation 1622
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:375198952"
variation 1630
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:369409660"
exon 1661..1723
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 1664
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:375417533"
variation 1672
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="c"
/db_xref="dbSNP:376461054"
variation 1683
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="g"
/replace="t"
/db_xref="dbSNP:373536407"
variation 1691
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:370509732"
variation 1723
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:181807938"
exon 1724..1750
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 1732
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:75222922"
variation 1736
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:201476017"
exon 1751..1882
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 1809
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:199823547"
variation 1873
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:370138639"
exon 1883..1945
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 1888
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:369792535"
variation 1900
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:376114537"
variation 1901
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:368967629"
variation 1914
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="g"
/replace="t"
/db_xref="dbSNP:371586411"
variation 1920
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:377286160"
variation 1930
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:370015560"
variation 1931
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:181012655"
exon 1946..1972
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 1954
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:199523495"
variation 1969
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:11702425"
exon 1973..2008
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 1984
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:367928373"
variation 1985
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:371970491"
variation 1998
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:376627920"
variation 1999
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:61731167"
variation 2005
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:372310838"
exon 2009..2080
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 2030
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:62000962"
variation 2032
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="c"
/db_xref="dbSNP:375695180"
variation 2044
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:185089648"
variation 2047
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:62000963"
variation 2052..2053
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace=""
/replace="c"
/db_xref="dbSNP:35277478"
exon 2081..2116
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 2083
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:375058430"
variation 2106
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:367841049"
exon 2117..2206
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 2134
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:373006940"
variation 2140
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:376084472"
variation 2148
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:370141116"
variation 2149
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:373318899"
variation 2152
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:377652187"
variation 2166
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="g"
/db_xref="dbSNP:79980197"
variation 2168
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:375408962"
variation 2170
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:377533410"
variation 2176
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:370417664"
variation 2185
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:374390595"
variation 2187
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:367570320"
variation 2192
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:372801767"
variation 2197
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:374522196"
exon 2207..2236
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 2215
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:201512380"
variation 2222
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:116111018"
variation 2229
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:377720407"
variation 2232
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="c"
/db_xref="dbSNP:58380358"
exon 2237..2263
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 2241
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:201805043"
variation 2245
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:115470104"
variation 2252
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="g"
/db_xref="dbSNP:372137898"
variation 2263
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:199910738"
exon 2264..2326
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 2278
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:376292745"
variation 2303
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:370009347"
variation 2316
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:370673713"
exon 2327..2401
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 2342
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:371808014"
variation 2353
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:373455911"
variation 2389
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="g"
/db_xref="dbSNP:2230693"
exon 2402..2428
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 2409
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:367994730"
variation 2410
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="g"
/replace="t"
/db_xref="dbSNP:371966493"
variation 2426
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:376597265"
variation 2427
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:367551698"
exon 2429..2482
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 2437
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:139122081"
variation 2441
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:201566264"
variation 2445
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:376924299"
variation 2482
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:200147240"
exon 2483..2557
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 2491
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:375606333"
variation 2500
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="c"
/db_xref="dbSNP:368730788"
variation 2501
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:372658384"
variation 2526
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:375575507"
variation 2527
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:369390092"
variation 2539
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:377601838"
exon 2558..2626
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 2559
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="g"
/db_xref="dbSNP:377444691"
variation 2567
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:372552105"
variation 2617
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:376919554"
exon 2627..2669
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 2627
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="g"
/replace="t"
/db_xref="dbSNP:200779516"
variation 2645
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:372312684"
variation 2650
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:374530279"
exon 2670..2732
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 2672
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:371993501"
variation 2681
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:377290522"
variation 2693
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:374976416"
variation 2698
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:369139821"
variation 2712
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:373528509"
variation 2722
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:191481067"
exon 2733..2776
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 2742
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:201753320"
variation 2743
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:190374248"
variation 2751..2753
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace=""
/replace="ttc"
/db_xref="dbSNP:371849586"
variation 2754
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace=""
/replace="ttc"
/db_xref="dbSNP:78636159"
exon 2777..2908
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 2816
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:372982447"
variation 2830
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:11544970"
variation 2831
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:187721798"
variation 2836
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:11544971"
variation 2848
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:370771189"
variation 2864..2881
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace=""
/replace="ggcccccccggcccccca"
/db_xref="dbSNP:201180574"
variation 2871
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace=""
/replace="cggcccccc"
/db_xref="dbSNP:72301048"
variation 2873..2881
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace=""
/replace="ggcccccca"
/db_xref="dbSNP:149296338"
variation 2881
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="c"
/db_xref="dbSNP:28696990"
variation 2885
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace=""
/replace="cccccaggc"
/db_xref="dbSNP:11276732"
variation 2886
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace=""
/replace="cccaggccc"
/db_xref="dbSNP:56328291"
variation 2887..2888
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace=""
/replace="cccaggccc"
/db_xref="dbSNP:78227997"
variation 2889
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:202106628"
exon 2909..3053
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 2930
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:371106773"
variation 2936
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:374058652"
variation 2968
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:368077149"
variation 2969
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:371933414"
variation 2974
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:375548890"
variation 2975
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:376598650"
variation 2977
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="g"
/db_xref="dbSNP:367549674"
variation 2987
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:372973695"
variation 2988
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:200299380"
variation 3001
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:369702868"
variation 3022
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="g"
/db_xref="dbSNP:367651350"
variation 3042
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:375478181"
exon 3054..3127
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 3062
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:201381498"
variation 3076
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:370656151"
variation 3115
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:375254978"
variation 3116
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:367825934"
exon 3128..3256
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 3147
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:199718927"
variation 3164..3169
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace=""
/replace="caggtg"
/db_xref="dbSNP:201754608"
variation 3173
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:200427354"
variation 3182
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:201265799"
variation 3199
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="g"
/db_xref="dbSNP:371774034"
variation 3223
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:376728632"
variation 3235
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:374911370"
variation 3236
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="c"
/db_xref="dbSNP:369018715"
variation 3238
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:377152291"
exon 3257..3289
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 3270
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:200839439"
variation 3271
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:12483761"
variation 3282
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:199583095"
exon 3290..3535
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 3314
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="g"
/db_xref="dbSNP:76086392"
variation 3351
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="g"
/db_xref="dbSNP:187670025"
variation 3354
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:374207420"
variation 3356
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:377620137"
variation 3381
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="g"
/replace="t"
/db_xref="dbSNP:112359725"
variation 3392
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:113268527"
variation 3398
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:372741290"
variation 3419
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:375753362"
variation 3420
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:370102608"
variation 3427
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:377093259"
variation 3446
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:199836125"
variation 3459
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="c"
/db_xref="dbSNP:372765303"
variation 3469
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:375601931"
variation 3484
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:150227889"
variation 3487
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1050351"
variation 3520
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:370921955"
exon 3536..3733
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 3550
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:374326288"
variation 3568
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:9980939"
variation 3571
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:376208451"
variation 3572
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:369592585"
variation 3577
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="g"
/replace="t"
/db_xref="dbSNP:373470254"
variation 3579
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:200484625"
variation 3589
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:370643343"
variation 3619
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:372559352"
variation 3636
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:375590764"
variation 3647
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:371038039"
variation 3649
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:114276639"
variation 3650
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:144147445"
variation 3664
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:370750158"
variation 3665
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:374880663"
variation 3670
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:368134801"
variation 3686
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:369304666"
variation 3689
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="g"
/replace="t"
/db_xref="dbSNP:371989063"
variation 3696
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:200043539"
variation 3700
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:367565307"
variation 3705
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:201006742"
variation 3708
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:377226690"
variation 3712
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:369895316"
variation 3713
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:77326997"
variation 3721
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:2838952"
exon 3734..3849
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 3742
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:372684121"
variation 3759
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="c"
/db_xref="dbSNP:375813847"
variation 3775
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:368913533"
variation 3783
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:373537140"
variation 3790
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:199498978"
variation 3796
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:371424181"
variation 3797
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:374321733"
variation 3803
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:199908300"
variation 3818
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:12483377"
variation 3821
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:375269967"
variation 3830
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:202104330"
exon 3850..5382
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/inference="alignment:Splign:1.39.8"
variation 3863
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:61736805"
variation 3875
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="g"
/replace="t"
/db_xref="dbSNP:200871316"
variation 3877
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:113315760"
variation 3891
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:202049650"
variation 3901
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:372279165"
variation 3902
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:370953127"
variation 3940
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:375390952"
variation 3944
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:370518474"
variation 3945
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:373708039"
variation 3960
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:61735035"
variation 3968
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="g"
/db_xref="dbSNP:374822514"
variation 3980
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:372436243"
variation 3996
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:375488894"
variation 4005
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:201489582"
variation 4011
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:371861582"
variation 4012
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="c"
/db_xref="dbSNP:375109205"
variation 4066
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:138930698"
variation 4075
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="c"
/db_xref="dbSNP:149459132"
variation 4076
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:7499"
variation 4084
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:369152864"
variation 4089
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="g"
/db_xref="dbSNP:371710532"
variation 4090
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:373537387"
variation 4093
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:376696662"
variation 4102
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:369684141"
variation 4131
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:8199"
variation 4187
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:369628824"
STS 4249..4480
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/standard_name="SHGC-8080"
/db_xref="UniSTS:7730"
variation 4273
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:143852653"
variation 4337
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:17004784"
variation 4351
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:148610040"
variation 4359
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:183949177"
variation 4362
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="c"
/db_xref="dbSNP:17255281"
variation 4366
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="g"
/db_xref="dbSNP:17004785"
variation 4400
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:7867"
variation 4408
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:146206934"
variation 4491
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:368394587"
variation 4499
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:371166816"
variation 4502
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="c"
/db_xref="dbSNP:11544972"
variation 4834
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:370216895"
variation 4909
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="t"
/db_xref="dbSNP:17255379"
variation 4912
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="g"
/db_xref="dbSNP:17004786"
variation 4924
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="c"
/db_xref="dbSNP:186538749"
variation 4965
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:367569832"
variation 4978
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:117981301"
STS 5020..5361
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/standard_name="SHGC-12530"
/db_xref="UniSTS:98863"
variation 5103
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="g"
/db_xref="dbSNP:377445664"
variation 5106
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1063505"
STS 5138..5364
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/standard_name="SHGC-87711"
/db_xref="UniSTS:81506"
variation 5207..5208
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace=""
/replace="ca"
/db_xref="dbSNP:143456926"
variation 5208..5209
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace=""
/replace="ca"
/db_xref="dbSNP:78063943"
variation 5208
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="c"
/db_xref="dbSNP:201512613"
variation 5209..5210
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace=""
/replace="ca"
/db_xref="dbSNP:71868999"
variation 5209
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1063507"
variation 5251
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:190947105"
variation 5278
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:144079697"
variation 5297
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="c"
/replace="t"
/db_xref="dbSNP:115900328"
variation 5307
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="a"
/replace="g"
/db_xref="dbSNP:182474443"
variation 5321
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
/replace="g"
/replace="t"
/db_xref="dbSNP:78156175"
polyA_signal 5359..5364
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
polyA_site 5382
/gene="COL18A1"
/gene_synonym="KNO; KNO1; KS"
ORIGIN
cgcggcggaggaggcagcatcccgcggcgctgacggtcctggggagagcatggcgccgaggtgcccctggccatggccgcggcggcggcgcctcctggacgtgctcgcgcccctggtcctgctgctcggggtccgcgcggcctccgcggagccagagcgcatcagcgaggaggtggggctgctgcagctccttggggaccccccgccccagcaggtcacccagacggatgaccccgacgtcgggctggcctacgtctttgggccagatgccaacagtggccaagtggcccggtaccacttccccagcctcttcttccgtgacttctcactgctgttccacatccggccagccacagagggcccaggggtgctgttcgccatcacggactcggcgcaggccatggtcttgctgggcgtgaagctctctggggtgcaggacgggcaccaggacatctccctgctctacacagaaccaggtgcaggccagacccacacagccgccagcttccggctccccgccttcgtcggccagtggacacacttagccctcagtgtggcaggtggctttgtggccctctacgtggactgtgaggagttccagagaatgccgcttgctcggtcctcacggggcctggagctggagcctggcgccgggctcttcgtggctcaggcggggggagcggaccctgacaagttccagggggtgatcgctgagctgaaggtgcgcagggacccccaggtgagccccatgcactgcctggacgaggaaggcgatgactcagatggggcatccggagactctggcagcgggctcggggacgcccgggagcttctcagggaggagacgggcgcggccctaaaacccaggctccccgcgccaccccccgtcaccacgccacccttggctggaggcagcagcacggaagattccagaagtgaagaagtcgaggagcagaccacggtggcttcgttaggagctcagacacttcctggctcagattctgtctccacgtgggacgggagtgtccggacccctgggggccgcgtgaaagagggcggcctgaaggggcagaaaggggagccaggtgttccgggcccacctggccgggcaggccccccaggatccccatgcctacctggtcccccgggtctcccgtgcccagtgagtcccctgggtcctgcaggcccagcgttgcaaactgtccccggaccacaaggacccccagggcctccggggagggacggcacccctggaagggacggcgagccgggcgaccccggtgaagacggaaagccgggcgacaccgggccacaaggcttccccgggactccaggggacgtaggtcccaagggcgacaagggagaccctggggttggagagagagggcccccaggaccccaagggcctccagggcccccaggaccctccttcagacacgacaagctgaccttcattgacatggagggatctggcttcgggggcgatctggaggccctgcggggtcctcgaggcttccctggacctcccggaccccccggtgtcccaggcctgcccggcgagccaggccgctttggggtgaacagctccgacgtcccaggacccgccggccttcctggtgtgcctgggcgcgagggtccccccgggtttcctggcctcccgggacccccaggccctccgggaagagaggggcccccaggaaggactgggcagaaaggcagcctgggtgaagcaggcgccccaggacataaggggagcaagggagcccccggtcctgctggtgctcgtggggagagcggcctggcaggagcccccggacctgctggaccaccaggcccccctgggccccctgggcccccaggaccaggactccccgctggatttgatgacatggaaggctccggggggcccttctggtcaacagcccgaagcgctgatgggccacagggacctcccggcctgccgggacttaagggggatcctggcgtgcctgggctgccgggggcgaagggagaagttggagcagatggagtccccgggttccccggcctccctggcagagagggcattgctgggccccaggggccaaagggagacagaggcagccggggagaaaagggagatccagggaaggacggagtcgggcagccgggcctccctggcccccccggacccccgggacctgtggtctacgtgtcggagcaggacggatccgtcctgagcgtgccgggacctgagggccggccgggtttcgcaggctttcccggacctgcaggacccaagggcaacctgggctctaagggcgaacgaggctccccgggacccaagggtgagaagggtgaaccgggcagcatcttcagccccgacggcggtgccctgggccctgcccagaaaggagccaagggagagccgggcttccgaggacccccgggtccatacggacggccggggtacaagggagagattggctttcctggacggccgggtcgccccgggatgaacggattgaaaggagagaaaggggagccgggagatgccagccttggatttggcatgaggggaatgcccggccccccaggacctccagggcccccaggccctccagggactcctgtttacgacagcaatgtgtttgctgagtccagccgccccgggcctccaggattgccagggaatcagggccctccaggacccaagggcgccaaaggagaagtgggcccccccggaccaccagggcagtttccgtttgactttcttcagttggaggctgaaatgaagggggagaagggagaccgaggtgatgcaggacagaaaggcgaaaggggggagcccgggggcggcggtttcttcggctccagcctgcccggcccccccggccccccaggcccacgtggctaccctgggattccaggtcccaagggagagagcatccggggccagcccggcccacctggacctcagggaccccccggcatcggctacgaggggcgccagggccctcccggccccccaggccccccagggcccccttcatttcctggccctcacaggcagactatcagcgttcccggccctccgggcccccctgggccccctgggccccctggaaccatgggcgcctcctcaggggtgaggctctgggctacacgccaggccatgctgggccaggtgcacgaggttcccgagggctggctcatcttcgtggccgagcaggaggagctctacgtccgcgtgcagaacgggttccggaaggtccagctggaggcccggacaccactcccacgagggacggacaatgaagtggccgccttgcagccccccgtggtgcagctgcacgacagcaacccctacccgcggcgggagcacccccaccccaccgcgcggccctggcgggcagatgacatcctggccagcccccctcgcctgcccgagccccagccctaccccggagccccgcaccacagctcctacgtgcacctgcggccggcgcgacccacaagcccacccgcccacagccaccgcgacttccagccggtgctccacctggttgcgctcaacagccccctgtcaggcggcatgcggggcatccgcggggccgacttccagtgcttccagcaggcgcgggccgtggggctggcgggcaccttccgcgccttcctgtcctcgcgcctgcaggacctgtacagcatcgtgcgccgtgccgaccgcgcagccgtgcccatcgtcaacctcaaggacgagctgctgtttcccagctgggaggctctgttctcaggctctgagggtccgctgaagcccggggcacgcatcttctcctttgacggcaaggacgtcctgaggcaccccacctggccccagaagagcgtgtggcatggctcggaccccaacgggcgcaggctgaccgagagctactgtgagacgtggcggacggaggctccctcggccacgggccaggcctcctcgctgctggggggcaggctcctggggcagagtgccgcgagctgccatcacgcctacatcgtgctctgcattgagaacagcttcatgactgcctccaagtagccaccgcctggatgcggatggccggagaggaccggcggctcggaggaagcccccaccgtgggcagggagcggccggccagcccctggccccaggacctggctgccatactttcctgtatagttcacgtttcatgtaatcctcaagaaataaaaggaagccaaagagtgtatttttttaaaagtttaaaacagaagcctgatgctgacattcacctgccccaactctcccctgacctgtgagcccagctgggtcaggcagggtgcagtatcatgccctgtgcaacctcttggcctgatcagaccacggctcgatttctccaggatttcctgctttgggaagccgtgctcgccccagcaggtgctgacttcatctcccacctagcagcaccgttctgtgcacaaaacccagacctgttagcagacaggccccgtgaggcaatgggagctgaggccacactcagcacaaggccatctgggctcctccagggtgtgtgctcgccctgcggtagatgggagggaggctcaggtccctggggctagggggagccccttctgctcagctctgggccattctccacagcaaccccaggctgaagcaggttcccaagctcagaggcgcactgtgacccccagctccggcctgtcctccaacaccaagcacagcagcctggggctggcctcccaaatgagccatgagatgatacatccaaagcagacagctccaccctggccgagtccaagctgggagattcaagggacccatgagttggggtctggcagcctcccatccagggcccccatctcatgcccctggctgggacgtggctcagccagcacttgtccagctgagcgccaggatggaacacggccacatcaaagaggctgaggctggcacaggacatgcggtagccagcacacagggcagtgagggagggctgtcatctgtgcactgcccatggacaggctggctccagatgcagggcagtcattggctgtctcctaggaaacccatatccttaccctccttgggactgaaggggaaccccggggtgcccacaggccgccctgcgggtgaacaaagcagccacgaggtgcaacaaggtcctctgtcagtcacagccacccctgagatccggcaacatcaacccgagtcattcgttctgtggagggacaagtggactcagggcagcgccaggctgaccacagcacagccaacacgcacctgcctcaggactgcgacgaaaccggtggggctggttctgtaattgtgtgtgatgtgaagccaattcagacaggcaaataaaagtgaccttttacactgaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:80781 -> Molecular function: GO:0005198 [structural molecule activity] evidence: IEA
GeneID:80781 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:80781 -> Molecular function: GO:0042802 [identical protein binding] evidence: IPI
GeneID:80781 -> Molecular function: GO:0046872 [metal ion binding] evidence: IEA
GeneID:80781 -> Biological process: GO:0001525 [angiogenesis] evidence: IEA
GeneID:80781 -> Biological process: GO:0001886 [endothelial cell morphogenesis] evidence: IEA
GeneID:80781 -> Biological process: GO:0007155 [cell adhesion] evidence: IEA
GeneID:80781 -> Biological process: GO:0007601 [visual perception] evidence: TAS
GeneID:80781 -> Biological process: GO:0008284 [positive regulation of cell proliferation] evidence: IEA
GeneID:80781 -> Biological process: GO:0008285 [negative regulation of cell proliferation] evidence: TAS
GeneID:80781 -> Biological process: GO:0009887 [organ morphogenesis] evidence: TAS
GeneID:80781 -> Biological process: GO:0022617 [extracellular matrix disassembly] evidence: TAS
GeneID:80781 -> Biological process: GO:0030198 [extracellular matrix organization] evidence: TAS
GeneID:80781 -> Biological process: GO:0030335 [positive regulation of cell migration] evidence: IEA
GeneID:80781 -> Biological process: GO:0030574 [collagen catabolic process] evidence: TAS
GeneID:80781 -> Biological process: GO:0043065 [positive regulation of apoptotic process] evidence: IEA
GeneID:80781 -> Cellular component: GO:0005576 [extracellular region] evidence: TAS
GeneID:80781 -> Cellular component: GO:0005581 [collagen] evidence: IEA
GeneID:80781 -> Cellular component: GO:0005604 [basement membrane] evidence: IEA
GeneID:80781 -> Cellular component: GO:0005615 [extracellular space] evidence: IDA
GeneID:80781 -> Cellular component: GO:0005788 [endoplasmic reticulum lumen] evidence: TAS
GeneID:80781 -> Cellular component: GO:0031012 [extracellular matrix] evidence: IDA
GeneID:80781 -> Cellular component: GO:0031012 [extracellular matrix] evidence: TAS
by
@meso_cacase at
DBCLS
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