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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu19882 Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand TBD TBD
OHu19882C Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA. Customized vector On-demand TBD TBD

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_030582.3, 110611234
Length 4551 bp
Structure linear
Update Date 04-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.
Product collagen alpha-1(XVIII) chain isoform 1 precursor
Comment

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 (1) is generated from an alternate promoter. It lacks an in-frame segment in the 5' exon, as compared to variant 3. The resulting isoform (1) lacks an internal segment in the N-terminus, as compared to isoform 3.

RefSeq NP_085059.2
CDS 22..4572
Misc Feature(1)85..606
Misc Feature(2)682..1248
Misc Feature(3)<1771..1884
Misc Feature(4)2485..2637
Misc Feature(5)2737..2859
Misc Feature(6)4039..4551
Misc Feature(7)order(4132..4134,4159..4161,4177..4179,4204..4209,
Exon (1)1..667
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (2)668..1212
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (3)1213..1299
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (4)1300..1359
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (5)1360..1489
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (6)1490..1566
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (7)1567..1782
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (8)1783..1809
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (9)1810..1872
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (10)1873..1959
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (11)1960..2013
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (12)2014..2172
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (13)2173..2235
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (14)2236..2262
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (15)2263..2394
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (16)2395..2457
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (17)2458..2484
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (18)2485..2520
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (19)2521..2592
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (20)2593..2628
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (21)2629..2718
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (22)2719..2748
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (23)2749..2775
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (24)2776..2838
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (25)2839..2913
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (26)2914..2940
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (27)2941..2994
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (28)2995..3069
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (29)3070..3138
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (30)3139..3181
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (31)3182..3244
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (32)3245..3288
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (33)3289..3420
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (34)3421..3565
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (35)3566..3639
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (36)3640..3768
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (37)3769..3801
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (38)3802..4047
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (39)4048..4245
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (40)4246..4361
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Exon (41)4362..5894
Gene:COL18A1
Gene Synonym:KNO; KNO1; KS
Translation MAPYPCGCHILLLLFCCLAAARANLLNLNWLWFNNEDTSHAATTIPEPQGPLPVQPTADT TTHVTPRNGSTEPATAPGSPEPPSELLEDGQDTPTSAESPDAPEENIAGVGAEILNVAKG IRSFVQLWNDTVPTESLARAETLVLETPVGPLALAGPSSTPQENGTTLWPSRGIPSSPGA HTTEAGTLPAPTPSPPSLGRPWAPLTGPSVPPPSSERISEEVGLLQLLGDPPPQQVTQTD DPDVGLAYVFGPDANSGQVARYHFPSLFFRDFSLLFHIRPATEGPGVLFAITDSAQAMVL LGVKLSGVQDGHQDISLLYTEPGAGQTHTAASFRLPAFVGQWTHLALSVAGGFVALYVDC EEFQRMPLARSSRGLELEPGAGLFVAQAGGADPDKFQGVIAELKVRRDPQVSPMHCLDEE GDDSDGASGDSGSGLGDARELLREETGAALKPRLPAPPPVTTPPLAGGSSTEDSRSEEVE EQTTVASLGAQTLPGSDSVSTWDGSVRTPGGRVKEGGLKGQKGEPGVPGPPGRAGPPGSP CLPGPPGLPCPVSPLGPAGPALQTVPGPQGPPGPPGRDGTPGRDGEPGDPGEDGKPGDTG PQGFPGTPGDVGPKGDKGDPGVGERGPPGPQGPPGPPGPSFRHDKLTFIDMEGSGFGGDL EALRGPRGFPGPPGPPGVPGLPGEPGRFGVNSSDVPGPAGLPGVPGREGPPGFPGLPGPP GPPGREGPPGRTGQKGSLGEAGAPGHKGSKGAPGPAGARGESGLAGAPGPAGPPGPPGPP GPPGPGLPAGFDDMEGSGGPFWSTARSADGPQGPPGLPGLKGDPGVPGLPGAKGEVGADG VPGFPGLPGREGIAGPQGPKGDRGSRGEKGDPGKDGVGQPGLPGPPGPPGPVVYVSEQDG SVLSVPGPEGRPGFAGFPGPAGPKGNLGSKGERGSPGPKGEKGEPGSIFSPDGGALGPAQ KGAKGEPGFRGPPGPYGRPGYKGEIGFPGRPGRPGMNGLKGEKGEPGDASLGFGMRGMPG PPGPPGPPGPPGTPVYDSNVFAESSRPGPPGLPGNQGPPGPKGAKGEVGPPGPPGQFPFD FLQLEAEMKGEKGDRGDAGQKGERGEPGGGGFFGSSLPGPPGPPGPRGYPGIPGPKGESI RGQPGPPGPQGPPGIGYEGRQGPPGPPGPPGPPSFPGPHRQTISVPGPPGPPGPPGPPGT MGASSGVRLWATRQAMLGQVHEVPEGWLIFVAEQEELYVRVQNGFRKVQLEARTPLPRGT DNEVAALQPPVVQLHDSNPYPRREHPHPTARPWRADDILASPPRLPEPQPYPGAPHHSSY VHLRPARPTSPPAHSHRDFQPVLHLVALNSPLSGGMRGIRGADFQCFQQARAVGLAGTFR AFLSSRLQDLYSIVRRADRAAVPIVNLKDELLFPSWEALFSGSEGPLKPGARIFSFDGKD VLRHPTWPQKSVWHGSDPNGRRLTESYCETWRTEAPSATGQASSLLGGRLLGQSAASCHH AYIVLCIENSFMTASK
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Position Chain Variation Link
50+g, tdbSNP:368343259
77+a, gdbSNP:386434293
77+c, tdbSNP:7277693
103+c, tdbSNP:375363285
111+a, gdbSNP:200976185
112+c, tdbSNP:369389768
141+c, tdbSNP:914230
152+c, tdbSNP:199984023
156+c, tdbSNP:368696106
163+c, gdbSNP:61749002
167+a, tdbSNP:61735029
192+a, gdbSNP:200354859
200+c, tdbSNP:199929202
211+a, gdbSNP:373586271
220+c, tdbSNP:375087150
260..261+, cdbSNP:375958675
260+c, gdbSNP:61739237
312+c, tdbSNP:201529109
321+a, gdbSNP:370812546
324+c, tdbSNP:149777818
333+a, gdbSNP:377623821
337+a, gdbSNP:375714903
345+c, tdbSNP:370000815
351+c, tdbSNP:374634058
352+a, gdbSNP:114139997
369+c, tdbSNP:62000459
393+c, tdbSNP:372080967
394+a, gdbSNP:200559406
419+c, tdbSNP:368269918
451+a, gdbSNP:61759533
523+c, gdbSNP:201773944
535+c, tdbSNP:368985827
536+a, gdbSNP:200284308
538+a, gdbSNP:62000960
558+c, tdbSNP:73386835
559+a, gdbSNP:148957774
561+c, tdbSNP:373353645
581+c, tdbSNP:142892701
592+c, tdbSNP:369474928
603+a, gdbSNP:372854150
609+c, gdbSNP:199717521
621+g, tdbSNP:201419516
622+c, tdbSNP:199725915
660+a, gdbSNP:2236451
679+dbSNP:
679+a, gdbSNP:375719577
687+a, gdbSNP:115800039
711+a, cdbSNP:190083327
717+a, gdbSNP:373105258
727+a, gdbSNP:375009748
737+c, tdbSNP:200842530
747+c, tdbSNP:372731688
748+a, gdbSNP:377002382
778+a, gdbSNP:370054491
787+a, cdbSNP:374084790
802+c, tdbSNP:76658745
803+a, gdbSNP:371058906
849+c, tdbSNP:149578781
856+c, tdbSNP:199918230
857+a, gdbSNP:375588763
858+a, gdbSNP:368228266
871+a, gdbSNP:112855834
876+a, cdbSNP:201508976
897+a, gdbSNP:61735014
902+c, tdbSNP:373861758
905+c, tdbSNP:367715239
913+a, cdbSNP:200702024
928+a, gdbSNP:376829205
953+a, gdbSNP:368606628
954+a, gdbSNP:372142063
981+a, gdbSNP:17004775
1011+c, tdbSNP:367852328
1012+a, gdbSNP:201833726
1021+c, tdbSNP:375242667
1028+c, tdbSNP:369275624
1029+c, tdbSNP:372556095
1035+c, tdbSNP:377547341
1049+c, tdbSNP:376036984
1057+a, gdbSNP:144281842
1071+a, gdbSNP:76754353
1139+a, gdbSNP:2236453
1159+a, gdbSNP:370834739
1161+c, tdbSNP:374980607
1164+c, tdbSNP:17004776
1165+a, gdbSNP:373735265
1173+c, tdbSNP:373748503
1174+a, gdbSNP:201116208
1185+a, gdbSNP:76148908
1187+c, gdbSNP:376944366
1215+dbSNP:
1215+g, tdbSNP:369219412
1221+c, tdbSNP:189093550
1228+c, tdbSNP:60162212
1232+a, cdbSNP:200168928
1237+c, tdbSNP:375001641
1238+a, gdbSNP:201095161
1252+a, gdbSNP:202012055
1254+a, gdbSNP:149772252
1275+c, tdbSNP:369721525
1304+dbSNP:
1304+c, tdbSNP:200073359
1320+c, tdbSNP:374330522
1328+c, gdbSNP:368233273
1332+c, tdbSNP:371736290
1336+c, tdbSNP:376722572
1337+g, tdbSNP:62000965
1362+dbSNP:
1362+c, tdbSNP:145912433
1364+c, tdbSNP:375414087
1365+a, gdbSNP:368376035
1389+a, gdbSNP:2230686
1397+c, tdbSNP:375411877
1398+c, gdbSNP:2230687
1402+a, cdbSNP:192075600
1407+a, c, g, tdbSNP:2230688
1433+c, tdbSNP:201652671
1434+a, gdbSNP:183924183
1435+c, gdbSNP:138471288
1448+a, gdbSNP:372308402
1458+c, tdbSNP:376715250
1472+c, tdbSNP:200230216
1473+a, gdbSNP:141548934
1476+g, tdbSNP:17338853
1481+c, tdbSNP:200882031
1486+a, gdbSNP:369289615
1487+c, gdbSNP:372726135
1523+dbSNP:
1523+c, tdbSNP:372492704
1531+a, gdbSNP:375058072
1558+a, gdbSNP:367882523
1569+dbSNP:
1569+c, tdbSNP:372133935
1570+a, gdbSNP:76547444
1573+c, tdbSNP:369413748
1604+c, tdbSNP:372859456
1612+c, tdbSNP:370176315
1618+c, tdbSNP:369114408
1619+a, gdbSNP:373030953
1633+c, gdbSNP:62000458
1657+c, tdbSNP:377028409
1667+c, tdbSNP:371330320
1698+c, tdbSNP:374344376
1704+a, gdbSNP:2230689
1755+c, tdbSNP:370965213
1764+c, tdbSNP:375400196
1773+c, tdbSNP:367951949
1776+c, tdbSNP:370283993
1782+a, gdbSNP:368902481
1785+dbSNP:
1785+c, gdbSNP:13046486
1785+c, gdbSNP:386464620
1786+a, gdbSNP:200553372
1809+a, gdbSNP:185296216
1815+dbSNP:
1815+c, tdbSNP:368594049
1818+a, cdbSNP:183085141
1822+c, tdbSNP:375265466
1827+a, gdbSNP:113540632
1836+c, tdbSNP:1131100
1851+c, tdbSNP:1131101
1853+c, tdbSNP:201414473
1866+a, cdbSNP:1131102
1884+dbSNP:
1884+a, gdbSNP:201380467
1903+c, tdbSNP:373670175
1948+c, tdbSNP:376357877
1951+a, gdbSNP:61738822
1989+dbSNP:
1989+c, tdbSNP:2236467
1990+a, gdbSNP:375852929
1996+a, gdbSNP:369917403
2013+g, tdbSNP:373106775
2021+dbSNP:
2021+a, gdbSNP:371292624
2044+c, tdbSNP:375739796
2068+a, gdbSNP:368194132
2070+c, tdbSNP:112723616
2071+a, gdbSNP:375045387
2096+a, gdbSNP:367836626
2101+a, gdbSNP:79292579
2103+c, tdbSNP:200106008
2108..2109+, cdbSNP:35603970
2110+a, gdbSNP:368600244
2116+g, tdbSNP:61737706
2118+c, tdbSNP:372703675
2134+c, tdbSNP:375198952
2142+c, tdbSNP:369409660
2176+dbSNP:
2176+c, tdbSNP:375417533
2184+a, cdbSNP:376461054
2195+g, tdbSNP:373536407
2203+c, tdbSNP:370509732
2235+a, gdbSNP:181807938
2244+dbSNP:
2244+a, gdbSNP:75222922
2248+a, gdbSNP:201476017
2321+dbSNP:
2321+c, tdbSNP:199823547
2385+c, tdbSNP:370138639
2400+dbSNP:
2400+c, tdbSNP:369792535
2412+c, tdbSNP:376114537
2413+a, gdbSNP:368967629
2426+g, tdbSNP:371586411
2432+c, tdbSNP:377286160
2442+c, tdbSNP:370015560
2443+a, gdbSNP:181012655
2466+dbSNP:
2466+c, tdbSNP:199523495
2481+c, tdbSNP:11702425
2496+dbSNP:
2496+c, tdbSNP:367928373
2497+a, gdbSNP:371970491
2510+c, tdbSNP:376627920
2511+a, gdbSNP:61731167
2517+a, gdbSNP:372310838
2542+dbSNP:
2542+a, gdbSNP:62000962
2544+a, cdbSNP:375695180
2556+c, tdbSNP:185089648
2559+c, tdbSNP:62000963
2564..2565+, cdbSNP:35277478
2595+dbSNP:
2595+a, gdbSNP:375058430
2618+a, gdbSNP:367841049
2646+dbSNP:
2646+c, tdbSNP:373006940
2652+c, tdbSNP:376084472
2660+c, tdbSNP:370141116
2661+a, gdbSNP:373318899
2664+c, tdbSNP:377652187
2678+c, gdbSNP:79980197
2680+a, gdbSNP:375408962
2682+a, gdbSNP:377533410
2688+a, gdbSNP:370417664
2697+a, gdbSNP:374390595
2699+c, tdbSNP:367570320
2704+a, gdbSNP:372801767
2709+a, gdbSNP:374522196
2727+dbSNP:
2727+c, tdbSNP:201512380
2734+a, gdbSNP:116111018
2741+a, gdbSNP:377720407
2744+a, cdbSNP:58380358
2753+dbSNP:
2753+a, gdbSNP:201805043
2757+a, gdbSNP:115470104
2764+c, gdbSNP:372137898
2775+c, tdbSNP:199910738
2790+dbSNP:
2790+c, tdbSNP:376292745
2815+a, gdbSNP:370009347
2828+c, tdbSNP:370673713
2854+dbSNP:
2854+c, tdbSNP:371808014
2865+c, tdbSNP:373455911
2901+c, gdbSNP:2230693
2921+dbSNP:
2921+c, tdbSNP:367994730
2922+g, tdbSNP:371966493
2938+c, tdbSNP:376597265
2939+c, tdbSNP:367551698
2949+dbSNP:
2949+c, tdbSNP:139122081
2953+c, tdbSNP:201566264
2957+c, tdbSNP:376924299
2994+a, gdbSNP:200147240
3003+dbSNP:
3003+c, tdbSNP:375606333
3012+a, cdbSNP:368730788
3013+a, gdbSNP:372658384
3038+c, tdbSNP:375575507
3039+a, gdbSNP:369390092
3051+c, tdbSNP:377601838
3071+dbSNP:
3071+c, gdbSNP:377444691
3079+a, gdbSNP:372552105
3129+c, tdbSNP:376919554
3139+dbSNP:
3139+g, tdbSNP:200779516
3157+c, tdbSNP:372312684
3162+c, tdbSNP:374530279
3184+dbSNP:
3184+a, gdbSNP:371993501
3193+c, tdbSNP:377290522
3205+a, gdbSNP:374976416
3210+c, tdbSNP:369139821
3224+c, tdbSNP:373528509
3234+c, tdbSNP:191481067
3254+dbSNP:
3254+c, tdbSNP:201753320
3255+a, gdbSNP:190374248
3266..3268+, ttcdbSNP:371849586
3328+dbSNP:
3328+a, gdbSNP:372982447
3342+c, tdbSNP:11544970
3343+a, gdbSNP:187721798
3348+c, tdbSNP:11544971
3360+c, tdbSNP:370771189
3376..3393+, ggcccccccggccccccadbSNP:201180574
3385..3393+, ggccccccadbSNP:149296338
3390..3398+, cccaggcccdbSNP:78227997
3393+a, cdbSNP:28696990
3401+a, gdbSNP:202106628
3442+dbSNP:
3442+c, tdbSNP:371106773
3448+c, tdbSNP:374058652
3480+c, tdbSNP:368077149
3481+a, gdbSNP:371933414
3486+c, tdbSNP:375548890
3487+a, gdbSNP:376598650
3489+c, gdbSNP:367549674
3499+c, tdbSNP:372973695
3500+a, gdbSNP:200299380
3513+c, tdbSNP:369702868
3534+c, gdbSNP:367651350
3554+c, tdbSNP:375478181
3574+dbSNP:
3574+a, gdbSNP:201381498
3588+a, gdbSNP:370656151
3627+c, tdbSNP:375254978
3628+a, gdbSNP:367825934
3659+dbSNP:
3659+a, gdbSNP:199718927
3676..3681+, caggtgdbSNP:201754608
3685+a, gdbSNP:200427354
3694+a, gdbSNP:201265799
3711+c, gdbSNP:371774034
3735+c, tdbSNP:376728632
3747+a, gdbSNP:374911370
3748+a, cdbSNP:369018715
3750+c, tdbSNP:377152291
3782+dbSNP:
3782+c, tdbSNP:200839439
3783+a, gdbSNP:12483761
3794+a, gdbSNP:199583095
3826+dbSNP:
3826+c, gdbSNP:76086392
3863+c, gdbSNP:187670025
3866+a, gdbSNP:374207420
3868+c, tdbSNP:377620137
3893+g, tdbSNP:112359725
3904+a, gdbSNP:113268527
3910+a, gdbSNP:372741290
3931+c, tdbSNP:375753362
3932+a, gdbSNP:370102608
3939+c, tdbSNP:377093259
3958+a, gdbSNP:199836125
3971+a, cdbSNP:372765303
3981+c, tdbSNP:375601931
3996+a, gdbSNP:150227889
3999+a, gdbSNP:1050351
4032+c, tdbSNP:370921955
4062+dbSNP:
4062+a, gdbSNP:374326288
4075..4076+, ctdbSNP:398122391
4080+a, gdbSNP:9980939
4083+c, tdbSNP:376208451
4084+a, gdbSNP:369592585
4089+g, tdbSNP:373470254
4091+a, gdbSNP:200484625
4101+c, tdbSNP:370643343
4131+a, gdbSNP:372559352
4148+c, tdbSNP:375590764
4159+c, tdbSNP:371038039
4161+c, tdbSNP:114276639
4162+a, gdbSNP:144147445
4176+a, gdbSNP:370750158
4177+c, tdbSNP:374880663
4182+a, gdbSNP:368134801
4198+a, gdbSNP:369304666
4201+g, tdbSNP:371989063
4208+a, gdbSNP:200043539
4212+c, tdbSNP:367565307
4217+a, gdbSNP:201006742
4220+c, tdbSNP:377226690
4224+c, tdbSNP:369895316
complement(4225)-t, cdbSNP:77326997
4233+c, tdbSNP:2838952
4254+dbSNP:
4254+a, gdbSNP:372684121
4271+a, cdbSNP:375813847
4287+c, tdbSNP:368913533
4295+a, gdbSNP:373537140
4302+a, gdbSNP:199498978
4308+c, tdbSNP:371424181
4309+a, gdbSNP:374321733
4315+c, tdbSNP:199908300
4330+a, gdbSNP:12483377
4333+a, gdbSNP:375269967
4342+a, gdbSNP:202104330
4375+dbSNP:
4375+c, g, tdbSNP:61736805
4387+g, tdbSNP:200871316
4389+a, gdbSNP:113315760
4403+a, gdbSNP:202049650
4413+c, tdbSNP:372279165
4414+a, gdbSNP:370953127
4452+a, gdbSNP:375390952
4456+a, gdbSNP:370518474
4457+c, tdbSNP:373708039
4472+c, tdbSNP:61735035
4480+c, gdbSNP:374822514
4492+c, tdbSNP:372436243
4508+c, tdbSNP:375488894
4517+a, gdbSNP:201489582
4523+c, tdbSNP:371861582
4524+a, cdbSNP:375109205
4578+a, gdbSNP:138930698
4587+a, cdbSNP:149459132
4588+a, gdbSNP:7499
4596+a, gdbSNP:369152864
4601+c, gdbSNP:371710532
4602+a, gdbSNP:373537387
4605+c, tdbSNP:376696662
4614+a, gdbSNP:369684141
4643+a, gdbSNP:8199
4699+a, gdbSNP:369628824
4785+c, tdbSNP:143852653
4849+c, tdbSNP:17004784
4863+a, gdbSNP:148610040
4871+a, gdbSNP:183949177
4874+a, cdbSNP:17255281
4878+c, gdbSNP:17004785
4878+c, gdbSNP:386541789
4912+a, gdbSNP:7867
4920+c, tdbSNP:146206934
5003+a, gdbSNP:368394587
5011+a, gdbSNP:371166816
complement(5014)-c, adbSNP:11544972
5346+c, tdbSNP:370216895
5421+a, tdbSNP:17255379
5424+c, gdbSNP:17004786
5436+a, cdbSNP:186538749
5477+a, gdbSNP:367569832
5490+c, tdbSNP:117981301
5615+c, gdbSNP:377445664
5618+c, gdbSNP:1063505
5719..5720+, cadbSNP:143456926
5720..5721+, cadbSNP:78063943
5720+a, cdbSNP:201512613
5721..5722+, cadbSNP:71868999
5721+c, gdbSNP:1063507
5763+a, gdbSNP:190947105
5790+c, tdbSNP:144079697
5809+c, tdbSNP:115900328
5819+a, gdbSNP:182474443
5833+g, tdbSNP:78156175
Gene SymbolCOL18A1
Gene SynonymKNO; KNO1; KS
Chromosome21
Locus Map21q22.3
Title Serum endostatin and risk of mortality in the elderly: findings from 2 community-based cohorts .
Author Arnlov J, Ruge T, Ingelsson E, Larsson A, Sundstrom J and Lind L.
Journal Arterioscler. Thromb. Vasc. Biol. 33 (11), 2689-2695 (2013)
Title Serum levels of angiogenic and anti-angiogenic factors: their prognostic relevance in locally advanced hepatocellular carcinoma .
Author Sharma BK, Srinivasan R, Kapil S, Singla B, Saini N, Chawla YK, Chakraborti A, Duseja A, Kalra N and Dhiman RK.
Journal Mol. Cell. Biochem. 383 (1-2), 103-112 (2013)
Title No evidence for locus heterogeneity in Knobloch syndrome .
Author Aldahmesh,M.A., Khan,A.O., Mohamed,J.Y., Levin,A.V., Wuthisiri,W., Lynch,S., McCreery,K. and Alkuraya,F.S.
Journal J. Med. Genet. 50 (8), 565-566 (2013)
Title Pharmacogenetic angiogenesis profiling for first-line chemotherapy in patients with advanced gastric cancer .
Author Dan S, Bai L, Li-Jie W, Ting Z and Zhi-Yuan M.
Journal Cancer Invest. 31 (6), 390-396 (2013)
Title Transcription expression and clinical significance of mRNA of vascular endothelial growth factor and endostatin in liquid-based preparation specimens from patients with cervical dysplasia and carcinoma .
Author Wu MZ, Zhang Y, Wu X, Fu ZM, Wu GP and Guo KJ.
Journal Acta Cytol. 57 (5), 522-527 (2013)
Title Zinc-dependent dimers observed in crystals of human endostatin .
Author Ding YH, Javaherian K, Lo KM, Chopra R, Boehm T, Lanciotti J, Harris BA, Li Y, Shapiro R, Hohenester E, Timpl R, Folkman J and Wiley DC.
Journal Proc. Natl. Acad. Sci. U.S.A. 95 (18), 10443-10448 (1998)
Title Complete primary structure of two variant forms of human type XVIII collagen and tissue-specific differences in the expression of the corresponding transcripts .
Author Saarela J, Ylikarppa R, Rehn M, Purmonen S and Pihlajaniemi T.
Journal Matrix Biol. 16 (6), 319-328 (1998)
Title A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3 .
Author Sertie AL, Quimby M, Moreira ES, Murray J, Zatz M, Antonarakis SE and Passos-Bueno MR.
Journal Hum. Mol. Genet. 5 (6), 843-847 (1996)
Title Isolation and sequencing of cDNAs for proteins with multiple domains of Gly-Xaa-Yaa repeats identify a distinct family of collagenous proteins .
Author Oh SP, Kamagata Y, Muragaki Y, Timmons S, Ooshima A and Olsen BR.
Journal Proc. Natl. Acad. Sci. U.S.A. 91 (10), 4229-4233 (1994)
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 .
Author Oh SP, Warman ML, Seldin MF, Cheng SD, Knoll JH, Timmons S and Olsen BR.
Journal Genomics 19 (3), 494-499 (1994)

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