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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu25462 Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA. pcDNA3.1+-DYK On-demand $1699.00 25
OHu25462C Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA. Customized vector On-demand $1699.00 25

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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_000088.3, 110349771
Length 4395 bp
Structure linear
Update Date 18-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.
Product collagen alpha-1(I) chain preproprotein
Comment

Summary: This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008].

RefSeq NP_000079.2
CDS 127..4521
Misc Feature(1)115..117
Misc Feature(2)244..411
Misc Feature(3)397..399
Misc Feature(4)478..480
Misc Feature(5)607..612
Misc Feature(6)610..660
Misc Feature(7)610..612
Misc Feature(8)634..636
Misc Feature(9)661..3702
Misc Feature(10)832..1011
Misc Feature(11)919..921
Misc Feature(12)940..1098
Misc Feature(13)1480..1731
Misc Feature(14)1651..1812
Misc Feature(15)1732..1911
Misc Feature(16)2128..2301
Misc Feature(17)2227..2403
Misc Feature(18)2359..2367
Misc Feature(19)2983..2988
Misc Feature(20)3403..3411
Misc Feature(21)3703..3780
Misc Feature(22)3778..3783
Misc Feature(23)3808..4518
Exon (1)1..229
Gene:COL1A1
Gene Synonym:OI4
Exon (2)230..424
Gene:COL1A1
Gene Synonym:OI4
Exon (3)425..459
Gene:COL1A1
Gene Synonym:OI4
Exon (4)460..495
Gene:COL1A1
Gene Synonym:OI4
Exon (5)496..597
Gene:COL1A1
Gene Synonym:OI4
Exon (6)598..669
Gene:COL1A1
Gene Synonym:OI4
Exon (7)670..714
Gene:COL1A1
Gene Synonym:OI4
Exon (8)715..768
Gene:COL1A1
Gene Synonym:OI4
Exon (9)769..822
Gene:COL1A1
Gene Synonym:OI4
Exon (10)823..876
Gene:COL1A1
Gene Synonym:OI4
Exon (11)877..930
Gene:COL1A1
Gene Synonym:OI4
Exon (12)931..984
Gene:COL1A1
Gene Synonym:OI4
Exon (13)985..1029
Gene:COL1A1
Gene Synonym:OI4
Exon (14)1030..1083
Gene:COL1A1
Gene Synonym:OI4
Exon (15)1084..1128
Gene:COL1A1
Gene Synonym:OI4
Exon (16)1129..1182
Gene:COL1A1
Gene Synonym:OI4
Exon (17)1183..1281
Gene:COL1A1
Gene Synonym:OI4
Exon (18)1282..1326
Gene:COL1A1
Gene Synonym:OI4
Exon (19)1327..1425
Gene:COL1A1
Gene Synonym:OI4
Exon (20)1426..1479
Gene:COL1A1
Gene Synonym:OI4
Exon (21)1480..1587
Gene:COL1A1
Gene Synonym:OI4
Exon (22)1588..1641
Gene:COL1A1
Gene Synonym:OI4
Exon (23)1642..1740
Gene:COL1A1
Gene Synonym:OI4
Exon (24)1741..1794
Gene:COL1A1
Gene Synonym:OI4
Exon (25)1795..1893
Gene:COL1A1
Gene Synonym:OI4
Exon (26)1894..1947
Gene:COL1A1
Gene Synonym:OI4
Exon (27)1948..2001
Gene:COL1A1
Gene Synonym:OI4
Exon (28)2002..2055
Gene:COL1A1
Gene Synonym:OI4
Exon (29)2056..2109
Gene:COL1A1
Gene Synonym:OI4
Exon (30)2110..2154
Gene:COL1A1
Gene Synonym:OI4
Exon (31)2155..2253
Gene:COL1A1
Gene Synonym:OI4
Exon (32)2254..2361
Gene:COL1A1
Gene Synonym:OI4
Exon (33)2362..2469
Gene:COL1A1
Gene Synonym:OI4
Exon (34)2470..2523
Gene:COL1A1
Gene Synonym:OI4
Exon (35)2524..2577
Gene:COL1A1
Gene Synonym:OI4
Exon (36)2578..2685
Gene:COL1A1
Gene Synonym:OI4
Exon (37)2686..2739
Gene:COL1A1
Gene Synonym:OI4
Exon (38)2740..2793
Gene:COL1A1
Gene Synonym:OI4
Exon (39)2794..2955
Gene:COL1A1
Gene Synonym:OI4
Exon (40)2956..3063
Gene:COL1A1
Gene Synonym:OI4
Exon (41)3064..3171
Gene:COL1A1
Gene Synonym:OI4
Exon (42)3172..3225
Gene:COL1A1
Gene Synonym:OI4
Exon (43)3226..3333
Gene:COL1A1
Gene Synonym:OI4
Exon (44)3334..3387
Gene:COL1A1
Gene Synonym:OI4
Exon (45)3388..3495
Gene:COL1A1
Gene Synonym:OI4
Exon (46)3496..3549
Gene:COL1A1
Gene Synonym:OI4
Exon (47)3550..3657
Gene:COL1A1
Gene Synonym:OI4
Exon (48)3658..3940
Gene:COL1A1
Gene Synonym:OI4
Exon (49)3941..4131
Gene:COL1A1
Gene Synonym:OI4
Exon (50)4132..4374
Gene:COL1A1
Gene Synonym:OI4
Exon (51)4375..5927
Gene:COL1A1
Gene Synonym:OI4
Translation MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRI CVCDNGKVLCDDVICDETKNCPGAEVPEGECCPVCPDGSESPTDQETTGVEGPKGDTGPR GPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGR PGERGPPGPQGARGLPGTAGLPGMKGHRGFSGLDGAKGDAGPAGPKGEPGSPGENGAPGQ MGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGP RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGP QGPGGPPGPKGNSGEPGAPGSKGDTGAKGEPGPVGVQGPPGPAGEEGKRGARGEPGPTGL PGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGV PGPPGAVGPAGKDGEAGAQGPPGPAGPAGERGEQGPAGSPGFQGLPGPAGPPGEAGKPGE QGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGDAGAPGAPGS QGAPGLQGMPGERGAAGLPGPKGDRGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGD KGESGPSGPAGPTGARGAPGDRGEPGPPGPAGFAGPPGADGQPGAKGEPGDAGAKGDAGP PGPAGPAGPPGPIGNVGAPGAKGARGSAGPPGATGFPGAAGRVGPPGPSGNAGPPGPPGP AGKEGGKGPRGETGPAGRPGEVGPPGPPGPAGEKGSPGADGPAGAPGTPGPQGIAGQRGV VGLPGQRGERGFPGLPGPSGEPGKQGPSGASGERGPPGPMGPPGLAGPPGESGREGAPGA EGSPGRDGSPGAKGDRGETGPAGPPGAPGAPGAPGPVGPAGKSGDRGETGPAGPAGPVGP VGARGPAGPQGPRGDKGETGEQGDRGIKGHRGFSGLQGPPGPPGSPGEQGPSGASGPAGP RGPPGSAGAPGKDGLNGLPGPIGPPGPRGRTGDAGPVGPPGPPGPPGPPGPPSAGFDFSF LPQPPQEKAHDGGRYYRADDANVVRDRDLEVDTTLKSLSQQIENIRSPEGSRKNPARTCR DLKMCHSDWKSGEYWIDPNQGCNLDAIKVFCNMETGETCVYPTQPSVAQKNWYISKNPKD KRHVWFGESMTDGFQFEYGGQGSDPADVAIQLTFLRLMSTEASQNITYHCKNSVAYMDQQ TGNLKKALLLQGSNEIEIRAEGNSRFTYSVTVDGCTSHTGAWGKTVIEYKTTKTSRLPII DVAPLDVGAPDQEFGFDVGPVCFL
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Position Chain Variation Link
70+dbSNP:
70+a, gdbSNP:2734278
complement(84)-g, adbSNP:368832341
complement(86)-g, adbSNP:200106397
complement(104)-t, cdbSNP:200689194
complement(171)-g, adbSNP:140295356
190+c, gdbSNP:72667007
complement(197)-t, cdbSNP:201920416
complement(203)-t, cdbSNP:151171179
complement(251)-dbSNP:
complement(251)-t, cdbSNP:367643097
complement(270)-t, adbSNP:374065372
complement(294)-t, cdbSNP:371006337
303+g, tdbSNP:1057297
complement(306)-g, adbSNP:374909743
complement(310)-t, cdbSNP:146431113
complement(330)-t, cdbSNP:370310586
372+, cdbSNP:72667010
complement(385)-g, adbSNP:143980299
425..426+dbSNP:
425..426+, agdbSNP:193922154
425..426+, cdbSNP:72667011
complement(434)-g, adbSNP:369883704
complement(438)-g, cdbSNP:375517119
complement(452)-t, cdbSNP:372159426
complement(453)-g, cdbSNP:369126752
complement(454)-t, cdbSNP:375823086
complement(458)-t, cdbSNP:371726131
complement(459)-g, adbSNP:2857400
complement(469)-dbSNP:
complement(469)-t, cdbSNP:267604945
complement(485)-t, cdbSNP:35183627
512+dbSNP:
512+, cdbSNP:72667014
515..516+, adbSNP:72667015
558+, cdbSNP:72667016
585+, tdbSNP:72667017
588+c, tdbSNP:41317351
complement(623)-dbSNP:
complement(623)-c, adbSNP:372514953
complement(630)-c, adbSNP:368246367
complement(642)-t, gdbSNP:377195143
643+g, tdbSNP:193922157
658+, cdbSNP:72667021
669+a, gdbSNP:72667022
complement(686)-dbSNP:
complement(686)-t, cdbSNP:377161165
complement(687)-g, adbSNP:148596229
698+a, c, gdbSNP:67828806
705+, tdbSNP:72667023
706+c, gdbSNP:72667024
716+dbSNP:
716+a, gdbSNP:72667028
725+g, tdbSNP:72667029
733+c, gdbSNP:72667030
734+g, tdbSNP:72667031
complement(738)-g, adbSNP:138078016
740+, cdbSNP:72667033
complement(753)-g, adbSNP:201136122
760+a, gdbSNP:72667034
complement(776..777)-dbSNP:
complement(776..777)-, cdbSNP:35238867
784+c, tdbSNP:72667036
complement(785)-t, cdbSNP:200142836
787+g, tdbSNP:72667037
796+g, tdbSNP:72667038
842+dbSNP:
842+a, gdbSNP:72645314
851+a, gdbSNP:72645315
complement(866)-g, adbSNP:199626372
868+a, gdbSNP:72645316
877+dbSNP:
877+g, tdbSNP:72645317
883+c, tdbSNP:72645318
886+a, gdbSNP:72645319
887+a, gdbSNP:72645320
complement(891)-t, cdbSNP:373529600
complement(894)-g, adbSNP:199891984
895+a, gdbSNP:72645321
901+, gdbSNP:72645322
complement(909)-g, adbSNP:369971149
913+a, gdbSNP:72645323
914+g, tdbSNP:72645324
complement(916)-t, adbSNP:374947065
923+a, gdbSNP:72645325
931+dbSNP:
931+a, gdbSNP:72645328
932+g, tdbSNP:72645329
934+, tdbSNP:72645330
940+g, tdbSNP:72645331
949+c, gdbSNP:72645332
950+a, gdbSNP:72645333
967+a, gdbSNP:72645334
968+a, gdbSNP:72645335
976+a, gdbSNP:72645336
977+c, gdbSNP:72645337
985+dbSNP:
985+a, gdbSNP:72645340
988+a, gdbSNP:72645341
complement(1000)-g, adbSNP:139840296
complement(1006)-t, cdbSNP:369612664
1021+c, gdbSNP:72645342
1022+a, gdbSNP:72645343
1039+dbSNP:
1039+a, c, gdbSNP:68062484
1057+c, gdbSNP:72645345
1058+a, gdbSNP:72645346
1060+c, tdbSNP:72645347
1066+a, gdbSNP:72645348
1085+dbSNP:
1085+g, tdbSNP:72645353
1094+a, gdbSNP:72645354
complement(1095)-t, gdbSNP:372319986
1102+a, gdbSNP:72645355
1103+a, gdbSNP:72645356
complement(1119)-g, adbSNP:147277057
1120+a, gdbSNP:72645357
1121+c, gdbSNP:72645358
complement(1125)-g, adbSNP:62637627
complement(1126..1127)-, gdbSNP:150572711
complement(1131)-dbSNP:
complement(1131)-t, adbSNP:375914028
complement(1134)-g, adbSNP:200750214
1138+a, g, tdbSNP:66664580
1147+g, tdbSNP:193922137
complement(1163)-g, adbSNP:372658559
complement(1168)-t, cdbSNP:139955975
1171+g, tdbSNP:72645362
1174+c, gdbSNP:72645363
1183+dbSNP:
1183+a, g, tdbSNP:66721653
complement(1189)-t, cdbSNP:373611041
1192+g, tdbSNP:72645365
complement(1195)-g, adbSNP:267604944
1207+c, tdbSNP:72645366
1220+c, g, tdbSNP:66494876
1228+a, gdbSNP:72645367
complement(1233)-t, cdbSNP:144889918
1237+a, gdbSNP:72645368
1253+, cdbSNP:72645369
1254+, tdbSNP:72645370
1256+c, gdbSNP:72645371
1264+g, tdbSNP:72648313
1265+g, tdbSNP:72648314
1273+a, g, tdbSNP:67182491
1291+dbSNP:
1291+a, c, g, tdbSNP:66548636
complement(1294)-t, cdbSNP:116794104
1301+a, gdbSNP:72648317
1309+a, gdbSNP:72648318
1318+g, tdbSNP:72648319
1319+a, c, gdbSNP:66501246
1327+dbSNP:
1327+g, tdbSNP:72648322
1328+a, gdbSNP:72648323
complement(1332)-c, adbSNP:141411256
complement(1335)-g, adbSNP:200786825
1336+a, g, tdbSNP:66893386
1345+a, g, tdbSNP:66761141
1354+a, gdbSNP:72648324
1361+c, gdbSNP:193922138
1364+c, gdbSNP:72648325
1369+c, tdbSNP:72648326
1375+c, gdbSNP:72648327
1390+g, tdbSNP:72648328
1391+c, gdbSNP:72648329
complement(1395)-g, adbSNP:149301001
1399+a, gdbSNP:72648330
1408+g, tdbSNP:72648331
1418+g, tdbSNP:72648332
1427+dbSNP:
1427+g, tdbSNP:72648333
complement(1467)-t, adbSNP:376238027
1489+dbSNP:
1489+g, tdbSNP:72648339
1507+a, gdbSNP:72648340
1516+a, gdbSNP:72648341
1517+a, gdbSNP:72648342
complement(1526)-t, cdbSNP:267604943
1540+c, tdbSNP:72648343
complement(1551)-g, adbSNP:200778332
complement(1552)-t, g, cdbSNP:57377812
complement(1566)-c, adbSNP:186025135
1570+a, gdbSNP:72648344
1571+c, gdbSNP:72648345
1578+, tdbSNP:72648346
complement(1581)-g, adbSNP:368476268
complement(1591)-dbSNP:
complement(1591)-t, cdbSNP:138570309
1597+g, tdbSNP:72648348
1612..1613+, ccdbSNP:72648349
complement(1623)-g, adbSNP:376679678
1633+g, tdbSNP:72648350
1670+dbSNP:
1670+c, gdbSNP:193922140
1674+c, tdbSNP:1007085
1705+g, tdbSNP:72648353
1706+c, gdbSNP:72648354
complement(1709)-t, cdbSNP:144751329
complement(1713)-g, adbSNP:113437353
1714+a, g, tdbSNP:67682641
1723+g, tdbSNP:72648355
1724+a, gdbSNP:72648356
complement(1764)-g, adbSNP:146450504
1783+, adbSNP:193922141
complement(1785)-g, adbSNP:372250574
1787+c, gdbSNP:72648358
1790+c, gdbSNP:72648359
1794+, tdbSNP:72648360
1804+dbSNP:
1804+a, c, g, tdbSNP:67507747
1817+a, gdbSNP:1800211
1822+a, c, gdbSNP:67416837
1831+c, gdbSNP:72648363
complement(1838)-g, adbSNP:5028520
1845..1846+, acdbSNP:72648364
1846+c, tdbSNP:72648365
1867+a, gdbSNP:72648366
1885+a, gdbSNP:72648367
1886+c, gdbSNP:72648368
1890+c, tdbSNP:1800212
1897+dbSNP:
1897+a, gdbSNP:1135345
1903+a, g, tdbSNP:66527965
1904+a, gdbSNP:72651613
complement(1909)-c, adbSNP:376047287
1918+c, tdbSNP:72651614
complement(1929)-g, adbSNP:148275339
1930+a, gdbSNP:72651615
complement(1937)-t, gdbSNP:374990175
complement(1938)-g, adbSNP:151328660
1938+, tdbSNP:193922143
1940+, gdbSNP:72651616
complement(1941)-g, adbSNP:370384784
1947+c, tdbSNP:41316667
complement(1963)-dbSNP:
complement(1963)-t, cdbSNP:143145612
1971..1973+, ggcdbSNP:72651618
1975+a, gdbSNP:72651619
1991+, cdbSNP:72651620
1992+, tdbSNP:72651621
complement(1999)-t, cdbSNP:149561221
2002+dbSNP:
2002+a, g, tdbSNP:68181175
complement(2008)-t, cdbSNP:113950465
complement(2010)-t, adbSNP:367637889
2011+a, gdbSNP:66489345
2011+, gdbSNP:66489346
complement(2013)-g, adbSNP:375695940
2029+a, gdbSNP:72651624
2039+g, tdbSNP:72651625
2065+dbSNP:
2065+a, gdbSNP:72651627
2070+, tdbSNP:72651628
2074+c, gdbSNP:72651626
2092+a, gdbSNP:72651629
2102+c, gdbSNP:72651630
2107+c, tdbSNP:72651631
2120+dbSNP:
2120+, gdbSNP:72651633
2136+, tdbSNP:72651634
complement(2160)-dbSNP:
complement(2160)-g, cdbSNP:147483404
2172..2173+, ctctctdbSNP:74315115
2173+a, gdbSNP:72651636
complement(2175)-g, cdbSNP:149352055
2183+g, tdbSNP:72651637
2188+c, tdbSNP:193922144
2191+a, gdbSNP:72651638
2198+, cdbSNP:72651639
2199+, tdbSNP:72651640
2210+, gdbSNP:72651641
2211+a, tdbSNP:1800213
2215+c, tdbSNP:72651642
complement(2216)-t, cdbSNP:202221716
complement(2220)-t, cdbSNP:139673121
2223+, cdbSNP:72651643
complement(2226)-g, adbSNP:201122145
2227+a, g, tdbSNP:68114505
2236+a, g, tdbSNP:67368147
2241+c, tdbSNP:41316673
complement(2242)-t, cdbSNP:372215246
complement(2258)-dbSNP:
complement(2258)-t, cdbSNP:371264264
2281+a, gdbSNP:72651645
2282+a, gdbSNP:72651646
2287+c, tdbSNP:193922145
2290+a, gdbSNP:72651647
complement(2292)-g, adbSNP:200188855
complement(2293)-t, cdbSNP:150803124
complement(2301)-t, cdbSNP:35017779
2308+a, gdbSNP:72651648
2327+g, tdbSNP:72651649
2335+g, tdbSNP:72651650
2336+a, gdbSNP:72651651
2353+a, gdbSNP:72651652
2354+g, tdbSNP:72651653
2389+dbSNP:
2389+a, gdbSNP:72651654
2394..2395+, tcdbSNP:72651655
2398+g, tdbSNP:72651656
complement(2400)-g, adbSNP:200111312
complement(2402)-t, gdbSNP:370916785
complement(2410)-t, cdbSNP:138749826
complement(2414)-t, cdbSNP:144820445
2417+g, tdbSNP:72651657
2424+c, g, tdbSNP:2734272
2425+a, gdbSNP:72651658
2434+a, g, tdbSNP:67087075
2443+a, gdbSNP:72651659
complement(2447)-g, adbSNP:377327542
2452+a, gdbSNP:72651660
2461+a, gdbSNP:72651661
complement(2481)-dbSNP:
complement(2481)-t, adbSNP:137937544
2488+a, g, tdbSNP:67879854
2513+a, gdbSNP:72651662
complement(2540)-dbSNP:
complement(2540)-g, adbSNP:145307365
2544+, tdbSNP:193922148
complement(2550)-g, adbSNP:369699409
2551+a, gdbSNP:72651663
2570+c, g, tdbSNP:66929517
2570+, gdbSNP:66929519
2576+, cdbSNP:193922149
complement(2577)-g, adbSNP:374465457
2577+, tdbSNP:72651664
2587+dbSNP:
2587+a, c, gdbSNP:67693970
2590+c, g, tdbSNP:72651668
2593+c, gdbSNP:1800214
2596+g, tdbSNP:72651669
2606+a, gdbSNP:72653129
complement(2608)-t, cdbSNP:199510546
2624+a, g, tdbSNP:67067133
2633+c, gdbSNP:72653130
complement(2634)-g, adbSNP:200620805
2636..2651+, atgctggtccccctggdbSNP:74315116
2641+a, gdbSNP:72653131
2642+a, gdbSNP:72653132
2649+, tdbSNP:72653133
2650+c, gdbSNP:72653134
2651+a, gdbSNP:72653135
complement(2658)-g, adbSNP:374158703
2659+a, gdbSNP:72653136
complement(2665)-t, cdbSNP:369455732
2678+a, gdbSNP:72653137
2686+dbSNP:
2686+a, gdbSNP:72653140
2695+g, tdbSNP:72653141
2705+c, gdbSNP:72653142
2720+a, gdbSNP:193922150
complement(2721)-g, adbSNP:117672175
2722+a, g, tdbSNP:67445413
2731+g, tdbSNP:72653143
2739+, tdbSNP:72653144
2749+dbSNP:
2749+a, gdbSNP:72653145
2758+a, gdbSNP:72653146
2770+c, tdbSNP:72653147
2772..2773+, agdbSNP:72653148
2785+a, gdbSNP:72653149
2810+dbSNP:
2810+, cdbSNP:72653151
2811+, tdbSNP:193922151
2812+g, tdbSNP:72653152
complement(2842)-t, cdbSNP:145446512
2848+, ggtccccgtdbSNP:398088132
2876+a, gdbSNP:72653153
complement(2879)-t, cdbSNP:181824088
complement(2896)-g, adbSNP:200990242
2902+g, tdbSNP:72653154
2910+, tdbSNP:72653155
2956+dbSNP:
2956+g, tdbSNP:72653158
2965+g, tdbSNP:72653159
complement(2968)-t, cdbSNP:371705356
2974+a, gdbSNP:72653160
2995+c, tdbSNP:72653161
2999+g, tdbSNP:72653162
3011+a, gdbSNP:72653163
3023+a, gdbSNP:193922152
3047+a, gdbSNP:72653164
complement(3057)-g, cdbSNP:374615784
3058+c, tdbSNP:193922153
3065+dbSNP:
3065+g, tdbSNP:72653166
complement(3070)-t, gdbSNP:141117382
complement(3075)-t, gdbSNP:201236489
complement(3103)-c, adbSNP:62062995
3127+g, tdbSNP:72653167
3134+, cdbSNP:72653168
3154+a, gdbSNP:72653169
3166+c, tdbSNP:72653170
3182+dbSNP:
3182+c, gdbSNP:1135348
complement(3187)-g, cdbSNP:139593707
3190+a, gdbSNP:66523073
3190+, gdbSNP:66523074
3191+c, g, tdbSNP:67771061
3199+a, gdbSNP:72653172
3202+c, tdbSNP:72653173
complement(3204)-t, cdbSNP:371229089
3205+, gdbSNP:72653174
3208+a, gdbSNP:72653175
complement(3220)-t, cdbSNP:374095521
complement(3228)-dbSNP:
complement(3228)-g, adbSNP:147743501
3232+c, tdbSNP:72653177
complement(3234)-g, adbSNP:372799058
3244+a, gdbSNP:72653178
complement(3249)-g, adbSNP:145608939
3258..3266+, ccctggtgcdbSNP:74315117
3262+a, g, tdbSNP:68181904
3271+a, gdbSNP:67641695
3271+, ggtgctcctdbSNP:398088133
3276..3284+, tcctggtgcdbSNP:74315111
3280+a, gdbSNP:72653179
3281..3289+, gtgcccctgdbSNP:74315123
3283..3284+, ctggtgdbSNP:74315149
3288+, tdbSNP:72654794
3298+a, gdbSNP:72654795
3307+a, gdbSNP:72654796
3308+a, gdbSNP:72654797
3317+c, gdbSNP:72654798
3322+c, tdbSNP:72654799
3327+, tdbSNP:72654800
complement(3332)-g, adbSNP:369626321
3340+dbSNP:
3340+g, tdbSNP:11556513
3349+a, gdbSNP:1800215
3352+a, g, tdbSNP:67394386
complement(3360)-g, adbSNP:370895601
3361+a, gdbSNP:72654802
complement(3363)-t, gdbSNP:374853330
3366+c, tdbSNP:1800216
complement(3369)-t, cdbSNP:1800217
3370+g, tdbSNP:72656303
complement(3373)-t, cdbSNP:372029024
3379+a, gdbSNP:72656304
complement(3381)-g, adbSNP:369670483
complement(3384)-g, adbSNP:200319927
3389+dbSNP:
3389+c, gdbSNP:72656305
3397+a, gdbSNP:72656306
complement(3402)-t, gdbSNP:17853658
3403+c, tdbSNP:72656307
3425+a, gdbSNP:72656308
3433..3440+, ggcgacagdbSNP:72656309
complement(3435)-g, adbSNP:142312753
3439+, adbSNP:72656310
3443+c, gdbSNP:72656311
complement(3459)-g, adbSNP:372044347
3496+dbSNP:
3496+g, tdbSNP:72656312
complement(3502)-g, cdbSNP:376986354
complement(3507)-g, adbSNP:111738740
3528+, cdbSNP:72656313
3547+c, tdbSNP:72656314
3548+a, gdbSNP:41316713
complement(3549)-t, gdbSNP:148737409
3550+dbSNP:
3550+a, gdbSNP:72656317
3559+g, tdbSNP:72656318
3560+a, gdbSNP:72656319
3577+a, gdbSNP:72656320
3578+g, tdbSNP:72656321
complement(3585)-t, cdbSNP:1800218
3586+c, gdbSNP:72656322
complement(3591)-g, adbSNP:368746726
complement(3594)-g, adbSNP:149980662
3596+a, gdbSNP:72656323
complement(3600)-g, adbSNP:201679090
3604..3621+, ggccccattgggccccctdbSNP:74315108
complement(3621)-c, adbSNP:139996062
3622+g, tdbSNP:72656324
complement(3630)-g, adbSNP:370529603
3631+a, g, tdbSNP:67815019
3641+a, gdbSNP:72656325
3649+a, g, tdbSNP:67762345
3655+a, gdbSNP:41316719
3659+dbSNP:
3659+g, tdbSNP:72656329
complement(3666)-g, adbSNP:146016027
3667+a, gdbSNP:72656330
3677+g, tdbSNP:72656331
3685+a, gdbSNP:72656332
3686+, gdbSNP:66948145
3686+g, tdbSNP:66948146
complement(3697)-g, cdbSNP:142570406
3706..3707+, gcdbSNP:72656333
3709+g, tdbSNP:72656334
3710+, gdbSNP:72656335
3715..3716+, gadbSNP:72656336
complement(3767)-t, cdbSNP:137987935
3778..3786+, gctgatgatdbSNP:74315144
3778+a, gdbSNP:72656337
complement(3779)-t, gdbSNP:201398339
3781+a, gdbSNP:72656338
3783+g, tdbSNP:72656339
complement(3786)-c, adbSNP:150751153
complement(3810)-g, adbSNP:141219921
complement(3814)-t, cdbSNP:376564562
complement(3853)-t, cdbSNP:373777457
complement(3859)-t, adbSNP:199514372
complement(3863)-t, cdbSNP:376524129
complement(3876)-t, gdbSNP:2586487
3878+c, gdbSNP:3205325
complement(3881)-t, cdbSNP:371904584
complement(3891)-g, adbSNP:372290536
complement(3892)-t, cdbSNP:148216434
complement(3895)-g, adbSNP:368295399
complement(3898)-t, gdbSNP:202131429
3908..3920+, acctcaagatgtgdbSNP:74315166
3916+a, gdbSNP:72656340
3932+a, gdbSNP:72656341
3955+c, gdbSNP:72656342
complement(3975)-t, gdbSNP:199911681
complement(4002)-g, adbSNP:143049736
complement(4024)-t, cdbSNP:192986202
complement(4032)-g, adbSNP:188887858
complement(4040)-g, adbSNP:201746814
4062+g, tdbSNP:72656343
complement(4091)-t, cdbSNP:138544681
4093+a, c, tdbSNP:72656344
4100+a, gdbSNP:72656345
complement(4104)-g, adbSNP:200145743
complement(4105)-t, cdbSNP:147104425
complement(4107)-g, adbSNP:369742817
complement(4108)-t, cdbSNP:142128554
complement(4114)-t, cdbSNP:201070506
complement(4119)-g, adbSNP:148659814
4134..4139+dbSNP:
4134..4139+, cgagtadbSNP:72656346
complement(4143)-t, gdbSNP:201256042
complement(4144)-t, cdbSNP:147936946
complement(4156)-t, cdbSNP:371547661
complement(4165)-t, cdbSNP:191166865
4180+, cdbSNP:72656347
complement(4188)-g, adbSNP:377703930
complement(4190)-g, adbSNP:113005305
complement(4193)-t, cdbSNP:149820303
complement(4207)-g, cdbSNP:141011435
4239+a, gdbSNP:41316723
4261+a, cdbSNP:3205509
complement(4280)-t, cdbSNP:376024832
4286+c, tdbSNP:397514672
4289+g, tdbSNP:72656348
4297+g, tdbSNP:2586486
complement(4298)-t, cdbSNP:370410110
complement(4300)-t, cdbSNP:377379528
complement(4305)-t, cdbSNP:1800219
complement(4307)-t, cdbSNP:147266928
complement(4309)-t, cdbSNP:373474549
complement(4322)-t, cdbSNP:146035171
complement(4334)-t, gdbSNP:77448028
complement(4335..4336)-, gggdbSNP:145381116
complement(4350)-g, adbSNP:369138260
4363+a, gdbSNP:72656349
4373+, cdbSNP:398122835
complement(4383)-dbSNP:
complement(4383)-g, adbSNP:144134990
complement(4384)-t, cdbSNP:139388334
4401+a, tdbSNP:10407
4407+c, tdbSNP:41316725
4417+a, cdbSNP:1059454
4422+a, cdbSNP:1059475
4426+a, tdbSNP:1800220
complement(4433)-t, cdbSNP:149295671
4436+a, tdbSNP:72656350
complement(4439)-g, cdbSNP:17857117
4447+g, tdbSNP:72656351
complement(4465)-t, cdbSNP:367952133
4484..4488+, aattcdbSNP:72656352
complement(4497)-g, adbSNP:112873723
complement(4498)-t, cdbSNP:138557594
complement(4505)-t, gdbSNP:17853657
4517+c, tdbSNP:72656353
4535+a, cdbSNP:1064882
complement(4537)-t, cdbSNP:202170631
complement(4541)-t, g, cdbSNP:199806909
complement(4542)-g, cdbSNP:201085309
complement(4553)-g, adbSNP:11556514
4578+g, tdbSNP:10144
4609+c, tdbSNP:1061237
complement(4614)-t, cdbSNP:367971695
complement(4623)-t, adbSNP:182302582
complement(4746..4747)-, ttdbSNP:56302025
complement(4764..4765)-, ttdbSNP:375051664
complement(4766)-t, cdbSNP:371036719
complement(4829)-, cdbSNP:200011356
complement(4899)-g, cdbSNP:148131473
complement(4904)-, cdbSNP:35582215
complement(5000)-g, adbSNP:75168103
complement(5128)-g, adbSNP:372353138
complement(5200..5201)-, cttg, cgtgdbSNP:3840870
complement(5201..5202)-, gctt, tgctdbSNP:35521741
complement(5202..5203)-, tgctdbSNP:112626388
complement(5203..5204)-, cttgdbSNP:141556853
complement(5203)-t, gdbSNP:77720683
complement(5204)-c, adbSNP:199723627
5265+c, tdbSNP:1061947
complement(5281)-, cdbSNP:111435223
complement(5406)-t, gdbSNP:62062994
complement(5430)-t, cdbSNP:377759600
complement(5467)-g, cdbSNP:376098958
complement(5471)-g, adbSNP:367793861
complement(5528)-t, cdbSNP:201245980
complement(5529..5530)-, aadbSNP:58879635
5532+c, tdbSNP:1061970
complement(5548)-c, adbSNP:200882287
complement(5604)-t, adbSNP:373689267
complement(5609)-t, cdbSNP:191326459
complement(5650)-t, cdbSNP:377369536
5674+c, tdbSNP:1062135
complement(5686)-g, cdbSNP:149419718
complement(5696)-c, adbSNP:75713851
complement(5712)-t, gdbSNP:34162544
complement(5723)-t, adbSNP:370496085
complement(5754)-t, cdbSNP:73987442
complement(5766)-g, adbSNP:145188105
complement(5829)-t, cdbSNP:12944834
complement(5886)-c, adbSNP:12937105
complement(5920)-t, cdbSNP:188154578
Gene SymbolCOL1A1
Gene SynonymOI4
Chromosome17
Locus Map17q21.33
Title Combined effects of collagen type I alpha1 (COL1A1) Sp1 polymorphism and osteoporosis risk factors on bone mineral density in Turkish postmenopausal women .
Author Kurt-Sirin O, Yilmaz-Aydogan H, Uyar M, Seyhan MF, Isbir T and Can A.
Journal Gene 540 (2), 226-231 (2014)
Title Inhibitory role of Id1 on TGF-beta-induced collagen expression in human dermal fibroblasts .
Author Je YJ, Choi DK, Sohn KC, Kim HR, Im M, Lee Y, Lee JH, Kim CD and Seo YJ.
Journal Biochem. Biophys. Res. Commun. 444 (1), 81-85 (2014)
Title An introduction of genetics in otosclerosis: a systematic review .
Author Bittermann AJ, Wegner I, Noordman BJ, Vincent R, van der Heijden GJ and Grolman W.
Journal Otolaryngol Head Neck Surg 150 (1), 34-39 (2014)
Title Apelin-13 induces proliferation, migration, and collagen I mRNA expression in human RPE cells via PI3K/Akt and MEK/Erk signaling pathways .
Author Qin D, Zheng XX and Jiang YR.
Journal Mol. Vis. 19, 2227-2236 (2013)
Title Caffey Disease .
Author Guerin,A., Dupuis,L. and Mendoza-Londono,R.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title COL1A1/2-Related Osteogenesis Imperfecta .
Author Steiner,R.D., Adsit,J. and Basel,D.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Activation of expression of genes coding for extracellular matrix proteins in Tat-producing glioblastoma cells .
Author Taylor JP, Cupp C, Diaz A, Chowdhury M, Khalili K, Jimenez SA and Amini S.
Journal Proc. Natl. Acad. Sci. U.S.A. 89 (20), 9617-9621 (1992)
Title Short amino acid sequences derived from C1q receptor (C1q-R) show homology with the alpha chains of fibronectin and vitronectin receptors and collagen type IV .
Author Ghebrehiwet B, Peerschke EI, Hong Y, Munoz P and Gorevic PD.
Journal J. Leukoc. Biol. 51 (6), 546-556 (1992)
Title Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis .
Author Nusgens BV, Verellen-Dumoulin C, Hermanns-Le T, De Paepe A, Nuytinck L, Pierard GE and Lapiere CM.
Journal Nat. Genet. 1 (3), 214-217 (1992)
Title Defective folding and stable association with protein disulfide isomerase/prolyl hydroxylase of type I procollagen with a deletion in the pro alpha 2(I) chain that preserves the Gly-X-Y repeat pattern .
Author Chessler SD and Byers PH.
Journal J. Biol. Chem. 267 (11), 7751-7757 (1992)

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