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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000089 Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA. GenEZ ORF Cloning On-demand $1699.00 25

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Related Services

RefSeq Version NM_000089.3, 48762933
Length 5411 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.
Product collagen alpha-2(I) chain
Comment

Summary: This gene encodes the pro-alpha2 chain 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 VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008].

RefSeq NP_000080.2
CDS 472..4572
Misc Feature(1)460..462
Misc Feature(2)709..711
Misc Feature(3)709..711
Misc Feature(4)721..723
Misc Feature(5)961..1122
Misc Feature(6)1729..1731
Misc Feature(7)1792..1794
Misc Feature(8)1801..1803
Misc Feature(9)3865..4569
Exon (1)1..541
Gene:COL1A2
Gene Synonym:OI4
Exon (2)542..552
Gene:COL1A2
Gene Synonym:OI4
Exon (3)553..567
Gene:COL1A2
Gene Synonym:OI4
Exon (4)568..603
Gene:COL1A2
Gene Synonym:OI4
Exon (5)604..696
Gene:COL1A2
Gene Synonym:OI4
Exon (6)697..750
Gene:COL1A2
Gene Synonym:OI4
Exon (7)751..795
Gene:COL1A2
Gene Synonym:OI4
Exon (8)796..849
Gene:COL1A2
Gene Synonym:OI4
Exon (9)850..903
Gene:COL1A2
Gene Synonym:OI4
Exon (10)904..957
Gene:COL1A2
Gene Synonym:OI4
Exon (11)958..1011
Gene:COL1A2
Gene Synonym:OI4
Exon (12)1012..1065
Gene:COL1A2
Gene Synonym:OI4
Exon (13)1066..1110
Gene:COL1A2
Gene Synonym:OI4
Exon (14)1111..1164
Gene:COL1A2
Gene Synonym:OI4
Exon (15)1165..1209
Gene:COL1A2
Gene Synonym:OI4
Exon (16)1210..1263
Gene:COL1A2
Gene Synonym:OI4
Exon (17)1264..1362
Gene:COL1A2
Gene Synonym:OI4
Exon (18)1363..1407
Gene:COL1A2
Gene Synonym:OI4
Exon (19)1408..1506
Gene:COL1A2
Gene Synonym:OI4
Exon (20)1507..1560
Gene:COL1A2
Gene Synonym:OI4
Exon (21)1561..1668
Gene:COL1A2
Gene Synonym:OI4
Exon (22)1669..1722
Gene:COL1A2
Gene Synonym:OI4
Exon (23)1723..1821
Gene:COL1A2
Gene Synonym:OI4
Exon (24)1822..1875
Gene:COL1A2
Gene Synonym:OI4
Exon (25)1876..1974
Gene:COL1A2
Gene Synonym:OI4
Exon (26)1975..2028
Gene:COL1A2
Gene Synonym:OI4
Exon (27)2029..2082
Gene:COL1A2
Gene Synonym:OI4
Exon (28)2083..2136
Gene:COL1A2
Gene Synonym:OI4
Exon (29)2137..2190
Gene:COL1A2
Gene Synonym:OI4
Exon (30)2191..2235
Gene:COL1A2
Gene Synonym:OI4
Exon (31)2236..2334
Gene:COL1A2
Gene Synonym:OI4
Exon (32)2335..2442
Gene:COL1A2
Gene Synonym:OI4
Exon (33)2443..2496
Gene:COL1A2
Gene Synonym:OI4
Exon (34)2497..2550
Gene:COL1A2
Gene Synonym:OI4
Exon (35)2551..2604
Gene:COL1A2
Gene Synonym:OI4
Exon (36)2605..2658
Gene:COL1A2
Gene Synonym:OI4
Exon (37)2659..2766
Gene:COL1A2
Gene Synonym:OI4
Exon (38)2767..2820
Gene:COL1A2
Gene Synonym:OI4
Exon (39)2821..2874
Gene:COL1A2
Gene Synonym:OI4
Exon (40)2875..3036
Gene:COL1A2
Gene Synonym:OI4
Exon (41)3037..3144
Gene:COL1A2
Gene Synonym:OI4
Exon (42)3145..3252
Gene:COL1A2
Gene Synonym:OI4
Exon (43)3253..3306
Gene:COL1A2
Gene Synonym:OI4
Exon (44)3307..3414
Gene:COL1A2
Gene Synonym:OI4
Exon (45)3415..3468
Gene:COL1A2
Gene Synonym:OI4
Exon (46)3469..3576
Gene:COL1A2
Gene Synonym:OI4
Exon (47)3577..3630
Gene:COL1A2
Gene Synonym:OI4
Exon (48)3631..3738
Gene:COL1A2
Gene Synonym:OI4
Exon (49)3739..3997
Gene:COL1A2
Gene Synonym:OI4
Exon (50)3998..4182
Gene:COL1A2
Gene Synonym:OI4
Exon (51)4183..4425
Gene:COL1A2
Gene Synonym:OI4
Exon (52)4426..5411
Gene:COL1A2
Gene Synonym:OI4
Translation MLSFVDTRTLLLLAVTLCLATCQSLQEETVRKGPAGDRGPRGERGPPGPPGRDGEDGPTG PPGPPGPPGPPGLGGNFAAQYDGKGVGLGPGPMGLMGPRGPPGAAGAPGPQGFQGPAGEP GEPGQTGPAGARGPAGPPGKAGEDGHPGKPGRPGERGVVGPQGARGFPGTPGLPGFKGIR GHNGLDGLKGQPGAPGVKGEPGAPGENGTPGQTGARGLPGERGRVGAPGPAGARGSDGSV GPVGPAGPIGSAGPPGFPGAPGPKGEIGAVGNAGPAGPAGPRGEVGLPGLSGPVGPPGNP GANGLTGAKGAAGLPGVAGAPGLPGPRGIPGPVGAAGATGARGLVGEPGPAGSKGESGNK GEPGSAGPQGPPGPSGEEGKRGPNGEAGSAGPPGPPGLRGSPGSRGLPGADGRAGVMGPP GSRGASGPAGVRGPNGDAGRPGEPGLMGPRGLPGSPGNIGPAGKEGPVGLPGIDGRPGPI GPAGARGEPGNIGFPGPKGPTGDPGKNGDKGHAGLAGARGAPGPDGNNGAQGPPGPQGVQ GGKGEQGPPGPPGFQGLPGPSGPAGEVGKPGERGLHGEFGLPGPAGPRGERGPPGESGAA GPTGPIGSRGPSGPPGPDGNKGEPGVVGAVGTAGPSGPSGLPGERGAAGIPGGKGEKGEP GLRGEIGNPGRDGARGAPGAVGAPGPAGATGDRGEAGAAGPAGPAGPRGSPGERGEVGPA GPNGFAGPAGAAGQPGAKGERGAKGPKGENGVVGPTGPVGAAGPAGPNGPPGPAGSRGDG GPPGMTGFPGAAGRTGPPGPSGISGPPGPPGPAGKEGLRGPRGDQGPVGRTGEVGAVGPP GFAGEKGPSGEAGTAGPPGTPGPQGLLGAPGILGLPGSRGERGLPGVAGAVGEPGPLGIA GPPGARGPPGAVGSPGVNGAPGEAGRDGNPGNDGPPGRDGQPGHKGERGYPGNIGPVGAA GAPGPHGPVGPAGKHGNRGETGPSGPVGPAGAVGPRGPSGPQGIRGDKGEPGEKGPRGLP GLKGHNGLQGLPGIAGHHGDQGAPGSVGPAGPRGPAGPSGPAGKDGRTGHPGTVGPAGIR GPQGHQGPAGPPGPPGPPGPPGVSGGGYDFGYDGDFYRADQPRSAPSLRPKDYEVDATLK SLNNQIETLLTPEGSRKNPARTCRDLRLSHPEWSSGYYWIDPNQGCTMDAIKVYCDFSTG ETCIRAQPENIPAKNWYRSSKDKKHVWLGETINAGSQFEYNVEGVTSKEMATQLAFMRLL ANYASQNITYHCKNSIAYMDEETGNLKKAVILQGSNDVELVAEGNSRFTYTVLVDGCSKK TNEWGKTIIEYKTNKPSRLPFLDIAPLDIGGADQEFFVDIGPVCFK
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Position Chain Variation Link
185+dbSNP:
185+c, tdbSNP:190926256
208+a, cdbSNP:182924222
378+a, gdbSNP:188671612
379+c, tdbSNP:146779800
523+c, tdbSNP:200278401
537+c, tdbSNP:192298378
558+dbSNP:
558+c, tdbSNP:1801182
593+dbSNP:
593+a, gdbSNP:139528613
609+dbSNP:
609+a, cdbSNP:148639088
630+g, tdbSNP:201699348
640+a, gdbSNP:201137000
646+a, cdbSNP:1800221
717+dbSNP:
717+c, tdbSNP:1800222
750+a, gdbSNP:72656356
775+dbSNP:
775+c, tdbSNP:189557655
824+dbSNP:
824+a, gdbSNP:72656358
842+a, gdbSNP:72656359
846+a, gdbSNP:141344424
860+dbSNP:
860+a, gdbSNP:72656360
868+a, gdbSNP:72656361
898+a, gdbSNP:200403666
968+dbSNP:
968+g, tdbSNP:72656366
1015+dbSNP:
1015+c, gdbSNP:72656368
1016+a, gdbSNP:113290292
1040+g, tdbSNP:72656369
1045+c, gdbSNP:146853345
1047+c, gdbSNP:140656978
1048+a, gdbSNP:72656370
1049+a, gdbSNP:72656371
1053+g, tdbSNP:144540908
1075+dbSNP:
1075+c, gdbSNP:72656376
1076+a, gdbSNP:72656377
1082+a, cdbSNP:146632642
1103+a, gdbSNP:72656378
1121+dbSNP:
1121+g, tdbSNP:72656380
1122+g, tdbSNP:1800223
1148+a, gdbSNP:193922173
1158+c, tdbSNP:1800224
1176+dbSNP:
1176+a, cdbSNP:1800225
1181+a, gdbSNP:75583081
1200+a, gdbSNP:1800226
1211+dbSNP:
1211+a, gdbSNP:72656384
1215+c, tdbSNP:1800227
1217+a, tdbSNP:1800228
1229+a, gdbSNP:72656385
1238+a, g, tdbSNP:67525025
1239+c, tdbSNP:1800229
1246+g, tdbSNP:121912905
1252+a, cdbSNP:141075408
1254+c, tdbSNP:200436925
1257+c, tdbSNP:1800230
1265+dbSNP:
1265+a, gdbSNP:72656386
1279+a, gdbSNP:368468
1292+a, g, tdbSNP:67675951
1297+a, gdbSNP:1800231
1302+a, tdbSNP:1800232
1309+a, gdbSNP:72656387
1319..1321+, gtgdbSNP:193922175
1326+c, gdbSNP:185254570
1328+c, g, tdbSNP:67210352
1337+c, g, tdbSNP:67031201
1351+g, tdbSNP:145693444
1355+g, tdbSNP:72656388
1356+a, gdbSNP:148959032
1363+dbSNP:
1363+c, gdbSNP:72656389
1391+a, gdbSNP:72656390
1399+c, gdbSNP:72656391
1416+dbSNP:
1416+c, tdbSNP:147058179
1417+c, gdbSNP:72656392
1419+a, gdbSNP:34511999
1420+a, gdbSNP:142803502
1426+a, gdbSNP:72656393
1434+c, tdbSNP:147021092
1435+a, gdbSNP:72656394
1445+a, gdbSNP:72656395
1446+a, tdbSNP:148063325
1452+c, tdbSNP:141762645
1453+a, g, tdbSNP:66612022
1454+a, gdbSNP:72656396
1463+a, g, tdbSNP:67729041
1471+a, gdbSNP:72656397
1479+c, tdbSNP:138357977
1480+a, c, g, tdbSNP:67865220
1489+a, c, gdbSNP:67180473
1501+c, gdbSNP:16868573
1507+dbSNP:
1507+a, c, g, tdbSNP:66547671
1516+a, g, tdbSNP:66773001
1519+c, tdbSNP:201463779
1543+a, g, tdbSNP:66619856
1557+a, gdbSNP:200284501
1561+dbSNP:
1561+a, gdbSNP:72656401
1566+c, tdbSNP:1800233
1570+g, tdbSNP:72656402
1572+g, tdbSNP:1800237
1579+a, gdbSNP:72658103
1580+c, gdbSNP:72658104
1598+a, g, tdbSNP:67543427
1607+c, gdbSNP:121912912
1619+a, cdbSNP:193922159
1625+a, gdbSNP:72658105
1634+g, tdbSNP:72658106
1642+a, g, tdbSNP:67707918
1687+dbSNP:
1687+a, gdbSNP:72658108
1697+g, tdbSNP:72658109
1723+dbSNP:
1723+a, gdbSNP:72658110
1724+a, gdbSNP:72658111
1733+a, gdbSNP:267606741
1741+a, gdbSNP:72658112
1750+a, gdbSNP:72658113
1766+a, gdbSNP:139446305
1769+a, gdbSNP:72658114
1790+a, gdbSNP:141677005
1800+a, gdbSNP:146206917
1804+c, gdbSNP:72658115
1814+a, gdbSNP:72658116
1831+dbSNP:
1831+g, tdbSNP:72658117
1849+a, gdbSNP:72658118
1854+c, tdbSNP:139726213
1877+dbSNP:
1877+c, gdbSNP:72658119
1885+g, tdbSNP:121912906
1904+a, g, tdbSNP:67034934
1912+a, gdbSNP:72658120
1917+a, cdbSNP:412777
1919+a, c, tdbSNP:414408
1922+a, g, tdbSNP:66671033
1924+a, gdbSNP:200057029
1935+g, tdbSNP:148802548
1949+a, gdbSNP:72658121
1967+g, tdbSNP:72658122
1975+dbSNP:
1975+a, gdbSNP:121912910
1980+c, tdbSNP:433386
1994+a, gdbSNP:72658124
1995+c, tdbSNP:142438481
2002+a, gdbSNP:72658125
2003+a, g, tdbSNP:66999265
2007+g, tdbSNP:200231086
2020+c, gdbSNP:72658126
2026+c, tdbSNP:151256720
2027+a, gdbSNP:201768205
2029+dbSNP:
2029+a, gdbSNP:72658128
2033+c, tdbSNP:140434765
2035+c, tdbSNP:199732595
2044+g, tdbSNP:147074348
2047+a, gdbSNP:72658129
2048+a, gdbSNP:72658130
2054+a, gdbSNP:41317144
2056+g, tdbSNP:72658131
2066+a, gdbSNP:72658132
2081+a, gdbSNP:200267911
2092+dbSNP:
2092+g, tdbSNP:72658133
2101+a, gdbSNP:72658134
2102+g, tdbSNP:72658135
2110+c, gdbSNP:72658136
2111+a, gdbSNP:121912901
2116+c, gdbSNP:42524
2129+a, gdbSNP:72658137
2155+dbSNP:
2155+g, tdbSNP:72658138
2160+c, tdbSNP:183493537
2161+a, gdbSNP:41317153
2196+dbSNP:
2196+c, tdbSNP:201829498
2205+c, gdbSNP:142388992
2210+a, gdbSNP:121912909
2221+a, cdbSNP:146984874
2227+c, gdbSNP:72658139
2228+g, tdbSNP:121912907
2241+dbSNP:
2241+a, gdbSNP:138019868
2245+a, gdbSNP:72658141
2254+a, g, tdbSNP:67745466
2264+g, tdbSNP:72658142
2272+a, gdbSNP:72658143
2273+a, gdbSNP:72658144
2344+dbSNP:
2344+a, gdbSNP:193922162
2345+a, gdbSNP:72658145
2349+g, tdbSNP:1800238
2353+c, gdbSNP:72658146
2372+g, tdbSNP:72658147
2381+a, gdbSNP:72658148
2390+a, gdbSNP:72658149
2401+a, gdbSNP:143178652
2407+g, tdbSNP:121912903
2408+g, tdbSNP:72658150
2452+dbSNP:
2452+a, gdbSNP:72658152
2453+g, tdbSNP:72658153
2462+a, gdbSNP:72658154
2480+a, gdbSNP:72658155
2497+dbSNP:
2497+c, gdbSNP:72658158
2498+a, g, tdbSNP:66883877
2504+a, cdbSNP:409108
2516+a, gdbSNP:72658159
2539+a, gdbSNP:148201919
2545+a, gdbSNP:141530844
2549+c, tdbSNP:34147460
2551+dbSNP:
2551+c, gdbSNP:121912908
2553+a, cdbSNP:193229878
2569+g, tdbSNP:72658160
2570+a, gdbSNP:72658161
2584..2592+, gctggtcctdbSNP:72658162
2593+c, tdbSNP:139199272
2594+a, gdbSNP:72658163
2605+dbSNP:
2605+a, gdbSNP:72658165
2606+a, gdbSNP:72658166
2615+a, gdbSNP:72658167
2616+c, tdbSNP:407577
2623+a, gdbSNP:72658168
2632+a, gdbSNP:72658169
2634+c, tdbSNP:150670521
2639+a, gdbSNP:189374343
2640+c, tdbSNP:407599
2655+g, tdbSNP:407620
2659+dbSNP:
2659+g, tdbSNP:72658171
2668+g, tdbSNP:72658172
2676+g, tdbSNP:407903
2677+g, tdbSNP:72658173
2686+a, gdbSNP:72658174
2698+a, gdbSNP:139863981
2699+c, gdbSNP:408535
2705+a, gdbSNP:72658175
2722+a, gdbSNP:72658176
2731+g, tdbSNP:72658177
2741+g, tdbSNP:72658178
2746+a, gdbSNP:200501072
2759+g, tdbSNP:72658179
2767+dbSNP:
2767+a, gdbSNP:72658182
2768+g, tdbSNP:72658183
2777+g, tdbSNP:72658184
2780+c, tdbSNP:149858889
2784+c, gdbSNP:144837722
2785+a, gdbSNP:72658185
2803+a, gdbSNP:72658186
2821+dbSNP:
2821+a, c, gdbSNP:66592844
2830+g, tdbSNP:72658187
2840+a, gdbSNP:72658188
2845+a, gdbSNP:185999584
2848+a, c, gdbSNP:67721374
2857+a, g, tdbSNP:66716547
2858+c, gdbSNP:72658189
2871+c, tdbSNP:139913150
2884+dbSNP:
2884+g, tdbSNP:72658190
2885+a, gdbSNP:121912904
2896+c, tdbSNP:145355907
2927+a, gdbSNP:147655324
2929+a, gdbSNP:72658191
2935+c, tdbSNP:142458320
2936+a, gdbSNP:1800240
2952+a, cdbSNP:142310831
2956+a, gdbSNP:72658192
2971+a, gdbSNP:150993338
2974+a, gdbSNP:72658193
2976+a, tdbSNP:140818991
2992+a, gdbSNP:72658194
2993+, tggdbSNP:78510209
2997+c, tdbSNP:41317725
2998+a, gdbSNP:112697991
3010+c, gdbSNP:72658196
3029+g, tdbSNP:72658197
3040+dbSNP:
3040+c, tdbSNP:150179964
3046+a, gdbSNP:72658200
3064+a, gdbSNP:121912902
3100+g, tdbSNP:72658201
3109+a, gdbSNP:72658202
3111+g, tdbSNP:138648085
3116+a, gdbSNP:140368271
3126+a, tdbSNP:410841
3146+dbSNP:
3146+a, gdbSNP:72659304
3155+a, gdbSNP:72659305
3158+c, tdbSNP:202068380
3171+c, tdbSNP:141688356
3172+a, gdbSNP:72659306
3181+c, gdbSNP:72659307
3183..3200+, ggcccgtggtcctcctggdbSNP:74315140
3188+a, gdbSNP:147063981
3191+a, gdbSNP:121912900
3217+c, gdbSNP:72659308
3224+a, gdbSNP:201052196
3235+a, gdbSNP:664
3248+a, gdbSNP:200331961
3280+dbSNP:
3280+g, tdbSNP:72659309
3282+a, tdbSNP:142491949
3285+c, tdbSNP:143939843
3297+c, tdbSNP:199580542
3298+a, gdbSNP:193922165
3300+a, c, tdbSNP:113828124
3303+c, tdbSNP:202050347
3307+dbSNP:
3307+a, gdbSNP:72659311
3314+a, gdbSNP:201168934
3316+a, gdbSNP:72659312
3324+c, tdbSNP:148362963
3327+c, tdbSNP:1800241
3334+a, g, tdbSNP:66507857
3339+c, tdbSNP:141516754
3340+a, gdbSNP:150867327
3353+g, tdbSNP:140194114
3375+c, tdbSNP:142352627
3380+a, gdbSNP:72659313
3389+a, g, tdbSNP:67609234
3403+c, tdbSNP:145633247
3416+dbSNP:
3416+a, g, tdbSNP:67422093
3434+g, tdbSNP:72659315
3438+c, tdbSNP:201760437
3443+g, tdbSNP:72659316
3455+c, tdbSNP:202112044
3461+a, gdbSNP:72659317
3485+dbSNP:
3485+a, gdbSNP:200357942
3487+a, gdbSNP:72659318
3488+c, gdbSNP:121912911
3489+c, tdbSNP:62001059
3505+a, c, gdbSNP:72659319
3514+c, gdbSNP:72659320
3533+a, gdbSNP:72659321
3537+a, cdbSNP:392609
3550+a, gdbSNP:72659322
3551+a, gdbSNP:72659323
3574+a, gdbSNP:184616265
3577+dbSNP:
3577+c, gdbSNP:72659325
3579+c, tdbSNP:140699496
3587+a, gdbSNP:72659326
3595+a, gdbSNP:72659327
3606+c, tdbSNP:1800248
3610+c, tdbSNP:35820023
3622+a, gdbSNP:72659328
3629..3630+, gdbSNP:35665296
3640+dbSNP:
3640+g, tdbSNP:72659330
3668+a, gdbSNP:72659331
3690+a, gdbSNP:401700
3698+a, cdbSNP:12666875
3704+a, gdbSNP:72659332
3713+g, tdbSNP:72659333
3722+g, tdbSNP:72659334
3731+a, gdbSNP:72659335
3732+c, tdbSNP:142518265
3739+dbSNP:
3739+g, tdbSNP:72659336
3740+a, gdbSNP:267606742
3750..3758+, tccccctggdbSNP:74315103
3755+, cdbSNP:193922167
3758+c, gdbSNP:72659337
3759+c, tdbSNP:149097024
3765..3773+, tggacctccdbSNP:74315134
3766+a, gdbSNP:72659338
3775+a, c, gdbSNP:67768540
3776+a, g, tdbSNP:68063264
3784+a, gdbSNP:139851311
3807+a, gdbSNP:34691365
3820+c, tdbSNP:140419392
3826+c, gdbSNP:193922168
3839+a, gdbSNP:145541630
3851+c, tdbSNP:137897282
3906+a, gdbSNP:193922169
3913+a, cdbSNP:1800250
3915+a, cdbSNP:143201262
3920+a, tdbSNP:140796408
3958+c, tdbSNP:72659339
3966+c, gdbSNP:72659340
3998+dbSNP:
3998+g, tdbSNP:72659341
4017+c, tdbSNP:384444
4038+a, tdbSNP:422361
4041+c, tdbSNP:384472
4055+a, gdbSNP:72659342
4056+c, tdbSNP:1800253
4063+c, tdbSNP:384487
4068+c, tdbSNP:384497
4072+g, tdbSNP:72659343
4084+c, tdbSNP:150124840
4085+a, gdbSNP:73428220
4087+a, gdbSNP:200492800
4103+c, tdbSNP:201746779
4126+a, cdbSNP:201249318
4157+a, gdbSNP:143282633
4162+a, gdbSNP:201560619
4197+dbSNP:
4197+a, tdbSNP:116275
4203+a, gdbSNP:199838292
4244+a, gdbSNP:200663095
4254+c, tdbSNP:201393190
4269+a, gdbSNP:6946518
4320+a, gdbSNP:34038163
4323+a, cdbSNP:663
4324+a, cdbSNP:144797861
4414+a, gdbSNP:6946698
4415+a, tdbSNP:72659344
4423+c, tdbSNP:191717459
4472..4475+dbSNP:
4472..4475+, ataadbSNP:72659345
4489+, cdbSNP:71667467
4491+c, gdbSNP:138451009
4505+c, tdbSNP:2229806
4518+c, gdbSNP:144133431
4519+a, gdbSNP:193922170
4533+g, tdbSNP:418570
4570+c, tdbSNP:72659346
4595+a, gdbSNP:3180904
4630..4632+, ttcdbSNP:202013558
4766+c, tdbSNP:1060399
4767+c, tdbSNP:190115417
4777+a, gdbSNP:6955879
4783+a, tdbSNP:112530798
4787+, tdbSNP:71754529
4849+a, tdbSNP:3180957
4855+c, tdbSNP:114837909
4862+a, tdbSNP:3173538
4868+a, cdbSNP:3202178
4883+a, cdbSNP:1061207
4938+a, cdbSNP:1061276
4987+g, tdbSNP:148913603
5155..5156+a, tdbSNP:11552612
5155+c, tdbSNP:143609521
5156..5157+, adbSNP:71784463
5215..5216+, tadbSNP:71784276
5226..5227+, ggacaacdbSNP:3917
5227..5228+, gttg, gttgt, gttgtccdbSNP:34095441
5227+g, tdbSNP:201376033
5272+c, tdbSNP:1803210
5303+c, tdbSNP:1062389
5307+g, tdbSNP:1803211
5376+g, tdbSNP:1062394
5404+a, gdbSNP:3180368
Gene SymbolCOL1A2
Gene SynonymOI4
Chromosome7
Locus Map7q22.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000089 Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA. On-demand $1699.00 25
Title SIRT1 deacetylates RFX5 and antagonizes repression of collagen type .
Author Xia,J., Wu,X., Yang,Y., Zhao,Y., Fang,M., Xie,W., Wang,H. and Xu,Y.
Journal Biochem. Biophys. Res. Commun. 428 (2), 264-270 (2012)
Title Synergistic roles of scleraxis and Smads in the regulation of collagen 1alpha2 gene expression .
Author Bagchi,R.A. and Czubryt,M.P.
Journal Biochim. Biophys. Acta 1823 (10), 1936-1944 (2012)
Title Linkage and association of successful aging to the 6q25 region in large Amish kindreds .
Author Edwards,D.R., Gilbert,J.R., Hicks,J.E., Myers,J.L., Jiang,L., Cummings,A.C., Guo,S., Gallins,P.J., Konidari,I., Caywood,L., Reinhart-Mercer,L., Fuzzell,D., Knebusch,C., Laux,R., Jackson,C.E., Pericak-Vance,M.A., Haines,J.L. and Scott,W.K.
Journal Age (Dordr) (2012) In press
Title COL1A2 polymorphic markers confer an increased risk of neovascular age-related macular degeneration in a Han Chinese population .
Author Zuo,C., Wen,F., Li,M., Zhang,X., Chen,H., Wu,K. and Zeng,R.
Journal Mol. Vis. 18, 1787-1793 (2012)
Title Hypermethylation of collagen alpha2 (I) gene (COL1A2) is an independent predictor of survival in head and neck cancer .
Author Misawa,K., Kanazawa,T., Misawa,Y., Imai,A., Endo,S., Hakamada,K. and Mineta,H.
Journal Cancer Biomark 10 (3-4), 135-144 (2011)
Title Regional localization of the intestinal mucin gene MUC3 to chromosome 7q22 .
Author Fox,M.F., Lahbib,F., Pratt,W., Attwood,J., Gum,J., Kim,Y. and Swallow,D.M.
Journal Ann. Hum. Genet. 56 (PT 4), 281-287 (1992)
Title Mapping of the regulatory subunits RI beta and RII beta of cAMP-dependent protein kinase genes on human chromosome 7 .
Author Solberg,R., Sistonen,P., Traskelin,A.L., Berube,D., Simard,J., Krajci,P., Jahnsen,T. and de la Chapelle,A.
Journal Genomics 14 (1), 63-69 (1992)
Title Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis .
Author Nusgens,B.V., Verellen-Dumoulin,C., Hermanns-Le,T., De Paepe,A., Nuytinck,L., Pierard,G.E. and Lapiere,C.M.
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,S.D. and Byers,P.H.
Journal J. Biol. Chem. 267 (11), 7751-7757 (1992)
Title Lethal perinatal osteogenesis imperfecta due to a type I collagen alpha 2(I) Gly to Arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatch .
Author Bateman,J.F., Moeller,I., Hannagan,M., Chan,D. and Cole,W.G.
Journal Hum. Mutat. 1 (1), 55-62 (1992)


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