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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.


RefSeq Accession Definition Services Price Order
NM_004369 Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. ORF Sequence Quote
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_004369.3, 190343014
Length 10599 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.
Product collagen alpha-3(VI) chain isoform 1 precursor
Comment

Summary: This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009].


Transcript Variant: This variant (1) represents the longest transcript and encodes the full-length isoform (1).

RefSeq NP_004360.2
CDS 286..9819
Misc Feature(1)31
Misc Feature(2)31
Misc Feature(3)211..213
Misc Feature(4)361..6399
Misc Feature(5)361..363
Misc Feature(6)397..894
Misc Feature(7)order(418..420,631..633,736..738)
Misc Feature(8)1006..1500
Misc Feature(9)order(1027..1029,1243..1245,1348..1350)
Misc Feature(10)1582..1584
Misc Feature(11)1615..2109
Misc Feature(12)order(1636..1638,1642..1644,1648..1650)
Misc Feature(13)order(1642..1650,1654..1656,1852..1854)
Misc Feature(14)2197..2691
Misc Feature(15)order(2218..2220,2224..2226,2230..2232)
Misc Feature(16)order(2224..2232,2236..2238,2434..2436)
Misc Feature(17)2791..3282
Misc Feature(18)order(2812..2814,3025..3027,3130..3132)
Misc Feature(19)3367..3858
Misc Feature(20)order(3388..3390,3601..3603,3706..3708)
Misc Feature(21)3979..4467
Misc Feature(22)order(4000..4002,4006..4008,4012..4014)
Misc Feature(23)order(4006..4014,4018..4020,4213..4215)
Misc Feature(24)4588..5082
Misc Feature(25)order(4609..4611,4615..4617,4621..4623)
Misc Feature(26)order(4615..4623,4627..4629,4825..4827)
Misc Feature(27)5197..5688
Misc Feature(28)order(5218..5220,5434..5436,5539..5541)
Misc Feature(29)5797..6267
Misc Feature(30)order(5815..5817,6055..6057,6142..6144)
Misc Feature(31)6400..7410
Misc Feature(32)6403..6411
Misc Feature(33)6541..6801
Misc Feature(34)6583..6585
Misc Feature(35)6592..6594
Misc Feature(36)6691..6699
Misc Feature(37)6727..6735
Misc Feature(38)6745..6753
Misc Feature(39)6901..6903
Misc Feature(40)6910..6912
Misc Feature(41)6919..6921
Misc Feature(42)7000..7002
Misc Feature(43)7231..7398
Misc Feature(44)7231..7233
Misc Feature(45)7240..7242
Misc Feature(46)7249..7251
Misc Feature(47)7294..7296
Misc Feature(48)7393..7401
Misc Feature(49)7411..9816
Misc Feature(50)7486..7914
Misc Feature(51)order(7486..7488,7492..7494,7555..7557,7816..7818,
Misc Feature(52)order(7507..7509,7513..7515,7519..7521,7738..7740,
Misc Feature(53)order(7513..7521,7525..7527,7738..7740)
Misc Feature(54)order(7615..7617,7660..7665,7696..7701)
Misc Feature(55)order(7642..7647,7651..7653,7750..7752,7759..7761,
Misc Feature(56)8137..8670
Misc Feature(57)order(8137..8139,8143..8145,8206..8208,8497..8499,
Misc Feature(58)order(8158..8160,8164..8166,8170..8172,8422..8424,
Misc Feature(59)order(8164..8172,8176..8178,8422..8424)
Misc Feature(60)order(8272..8274,8347..8352,8383..8388)
Misc Feature(61)order(8299..8301,8332..8334,8338..8340,8434..8436,
Misc Feature(62)9262..9468
Misc Feature(63)9613..9771
Misc Feature(64)order(9643..9657,9661..9663)
Misc Feature(65)9649..9654
Exon (1)1..255
Gene:COL6A3
Gene Synonym:COL6A3
Exon (2)256..376
Gene:COL6A3
Gene Synonym:COL6A3
Exon (3)377..994
Gene:COL6A3
Gene Synonym:COL6A3
Exon (4)995..1597
Gene:COL6A3
Gene Synonym:COL6A3
Exon (5)1598..2182
Gene:COL6A3
Gene Synonym:COL6A3
Exon (6)2183..2782
Gene:COL6A3
Gene Synonym:COL6A3
Exon (7)2783..3355
Gene:COL6A3
Gene Synonym:COL6A3
Exon (8)3356..3964
Gene:COL6A3
Gene Synonym:COL6A3
Exon (9)3965..4570
Gene:COL6A3
Gene Synonym:COL6A3
Exon (10)4571..5185
Gene:COL6A3
Gene Synonym:COL6A3
Exon (11)5186..5785
Gene:COL6A3
Gene Synonym:COL6A3
Exon (12)5786..6123
Gene:COL6A3
Gene Synonym:COL6A3
Exon (13)6124..6202
Gene:COL6A3
Gene Synonym:COL6A3
Exon (14)6203..6348
Gene:COL6A3
Gene Synonym:COL6A3
Exon (15)6349..6441
Gene:COL6A3
Gene Synonym:COL6A3
Exon (16)6442..6495
Gene:COL6A3
Gene Synonym:COL6A3
Exon (17)6496..6567
Gene:COL6A3
Gene Synonym:COL6A3
Exon (18)6568..6594
Gene:COL6A3
Gene Synonym:COL6A3
Exon (19)6595..6639
Gene:COL6A3
Gene Synonym:COL6A3
Exon (20)6640..6693
Gene:COL6A3
Gene Synonym:COL6A3
Exon (21)6694..6756
Gene:COL6A3
Gene Synonym:COL6A3
Exon (22)6757..6822
Gene:COL6A3
Gene Synonym:COL6A3
Exon (23)6823..6876
Gene:COL6A3
Gene Synonym:COL6A3
Exon (24)6877..6912
Gene:COL6A3
Gene Synonym:COL6A3
Exon (25)6913..6975
Gene:COL6A3
Gene Synonym:COL6A3
Exon (26)6976..7038
Gene:COL6A3
Gene Synonym:COL6A3
Exon (27)7039..7101
Gene:COL6A3
Gene Synonym:COL6A3
Exon (28)7102..7164
Gene:COL6A3
Gene Synonym:COL6A3
Exon (29)7165..7215
Gene:COL6A3
Gene Synonym:COL6A3
Exon (30)7216..7251
Gene:COL6A3
Gene Synonym:COL6A3
Exon (31)7252..7314
Gene:COL6A3
Gene Synonym:COL6A3
Exon (32)7315..7377
Gene:COL6A3
Gene Synonym:COL6A3
Exon (33)7378..7410
Gene:COL6A3
Gene Synonym:COL6A3
Exon (34)7411..7447
Gene:COL6A3
Gene Synonym:COL6A3
Exon (35)7448..7459
Gene:COL6A3
Gene Synonym:COL6A3
Exon (36)7460..7953
Gene:COL6A3
Gene Synonym:COL6A3
Exon (37)7954..8050
Gene:COL6A3
Gene Synonym:COL6A3
Exon (38)8051..8749
Gene:COL6A3
Gene Synonym:COL6A3
Exon (39)8750..8852
Gene:COL6A3
Gene Synonym:COL6A3
Exon (40)8853..9250
Gene:COL6A3
Gene Synonym:COL6A3
Exon (41)9251..9514
Gene:COL6A3
Gene Synonym:COL6A3
Exon (42)9515..9613
Gene:COL6A3
Gene Synonym:COL6A3
Exon (43)9614..9778
Gene:COL6A3
Gene Synonym:COL6A3
Exon (44)9779..10581
Gene:COL6A3
Gene Synonym:COL6A3
Translation MRKHRHLPLVAVFCLFLSGFPTTHAQQQQADVKNGAAADIIFLVDSSWTIGEEHFQLVRE FLYDVVKSLAVGENDFHFALVQFNGNPHTEFLLNTYRTKQEVLSHISNMSYIGGTNQTGK GLEYIMQSHLTKAAGSRAGDGVPQVIVVLTDGHSKDGLALPSAELKSADVNVFAIGVEDA DEGALKEIASEPLNMHMFNLENFTSLHDIVGNLVSCVHSSVSPERAGDTETLKDITAQDS ADIIFLIDGSNNTGSVNFAVILDFLVNLLEKLPIGTQQIRVGVVQFSDEPRTMFSLDTYS TKAQVLGAVKALGFAGGELANIGLALDFVVENHFTRAGGSRVEEGVPQVLVLISAGPSSD EIRYGVVALKQASVFSFGLGAQAASRAELQHIATDDNLVFTVPEFRSFGDLQEKLLPYIV GVAQRHIVLKPPTIVTQVIEVNKRDIVFLVDGSSALGLANFNAIRDFIAKVIQRLEIGQD LIQVAVAQYADTVRPEFYFNTHPTKREVITAVRKMKPLDGSALYTGSALDFVRNNLFTSS AGYRAAEGIPKLLVLITGGKSLDEISQPAQELKRSSIMAFAIGNKGADQAELEEIAFDSS LVFIPAEFRAAPLQGMLPGLLAPLRTLSGTPEVHSNKRDIIFLLDGSANVGKTNFPYVRD FVMNLVNSLDIGNDNIRVGLVQFSDTPVTEFSLNTYQTKSDILGHLRQLQLQGGSGLNTG SALSYVYANHFTEAGGSRIREHVPQLLLLLTAGQSEDSYLQAANALTRAGILTFCVGASQ ANKAELEQIAFNPSLVYLMDDFSSLPALPQQLIQPLTTYVSGGVEEVPLAQPESKRDILF LFDGSANLVGQFPVVRDFLYKIIDELNVKPEGTRIAVAQYSDDVKVESRFDEHQSKPEIL NLVKRMKIKTGKALNLGYALDYAQRYIFVKSAGSRIEDGVLQFLVLLVAGRSSDRVDGPA SNLKQSGVVPFIFQAKNADPAELEQIVLSPAFILAAESLPKIGDLHPQIVNLLKSVHNGA PAPVSGEKDVVFLLDGSEGVRSGFPLLKEFVQRVVESLDVGQDRVRVAVVQYSDRTRPEF YLNSYMNKQDVVNAVRQLTLLGGPTPNTGAALEFVLRNILVSSAGSRITEGVPQLLIVLT ADRSGDDVRNPSVVVKRGGAVPIGIGIGNADITEMQTISFIPDFAVAIPTFRQLGTVQQV ISERVTQLTREELSRLQPVLQPLPSPGVGGKRDVVFLIDGSQSAGPEFQYVRTLIERLVD YLDVGFDTTRVAVIQFSDDPKVEFLLNAHSSKDEVQNAVQRLRPKGGRQINVGNALEYVS RNIFKRPLGSRIEEGVPQFLVLISSGKSDDEVDDPAVELKQFGVAPFTIARNADQEELVK ISLSPEYVFSVSTFRELPSLEQKLLTPITTLTSEQIQKLLASTRYPPPAVESDAADIVFL IDSSEGVRPDGFAHIRDFVSRIVRRLNIGPSKVRVGVVQFSNDVFPEFYLKTYRSQAPVL DAIRRLRLRGGSPLNTGKALEFVARNLFVKSAGSRIEDGVPQHLVLVLGGKSQDDVSRFA QVIRSSGIVSLGVGDRNIDRTELQTITNDPRLVFTVREFRELPNIEERIMNSFGPSAATP APPGVDTPPPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFVSEIVDTVYEDGDSIQVGL VQYNSDPTDEFFLKDFSTKRQIIDAINKVVYKGGRHANTKVGLEHLRVNHFVPEAGSRLD QRVPQIAFVITGGKSVEDAQDVSLALTQRGVKVFAVGVRNIDSEEVGKIASNSATAFRVG NVQELSELSEQVLETLHDAMHETLCPGVTDAAKACNLDVILGFDGSRDQNVFVAQKGFES KVDAILNRISQMHRVSCSGGRSPTVRVSVVANTPSGPVEAFDFDEYQPEMLEKFRNMRSQ HPYVLTEDTLKVYLNKFRQSSPDSVKVVIHFTDGADGDLADLHRASENLRQEGVRALILV GLERVVNLERLMHLEFGRGFMYDRPLRLNLLDLDYELAEQLDNIAEKACCGVPCKCSGQR GDRGPIGSIGPKGIPGEDGYRGYPGDEGGPGERGPPGVNGTQGFQGCPGQRGVKGSRGFP GEKGEVGEIGLDGLDGEDGDKGLPGSSGEKGNPGRRGDKGPRGEKGERGDVGIRGDPGNP GQDSQERGPKGETGDLGPMGVPGRDGVPGGPGETGKNGGFGRRGPPGAKGNKGGPGQPGF EGEQGTRGAQGPAGPAGPPGLIGEQGISGPRGSGGAAGAPGERGRTGPLGRKGEPGEPGP KGGIGNRGPRGETGDDGRDGVGSEGRRGKKGERGFPGYPGPKGNPGEPGLNGTTGPKGIR GRRGNSGPPGIVGQKGDPGYPGPAGPKGNRGDSIDQCALIQSIKDKCPCCYGPLECPVFP TELAFALDTSEGVNQDTFGRMRDVVLSIVNDLTIAESNCPRGARVAVVTYNNEVTTEIRF ADSKRKSVLLDKIKNLQVALTSKQQSLETAMSFVARNTFKRVRNGFLMRKVAVFFSNTPT RASPQLREAVLKLSDAGITPLFLTRQEDRQLINALQINNTAVGHALVLPAGRDLTDFLEN VLTCHVCLDICNIDPSCGFGSWRPSFRDRRAAGSDVDIDMAFILDSAETTTLFQFNEMKK YIAYLVRQLDMSPDPKASQHFARVAVVQHAPSESVDNASMPPVKVEFSLTDYGSKEKLVD FLSRGMTQLQGTRALGSAIEYTIENVFESAPNPRDLKIVVLMLTGEVPEQQLEEAQRVIL QAKCKGYFFVVLGIGRKVNIKEVYTFASEPNDVFFKLVDKSTELNEEPLMRFGRLLPSFV SSENAFYLSPDIRKQCDWFQGDQPTKNLVKFGHKQVNVPNNVTSSPTSNPVTTTKPVTTT KPVTTTTKPVTTTTKPVTIINQPSVKPAAAKPAPAKPVAAKPVATKMATVRPPVAVKPAT AAKPVAAKPAAVRPPAAAAAKPVATKPEVPRPQAAKPAATKPATTKPMVKMSREVQVFEI TENSAKLHWERAEPPGPYFYDLTVTSAHDQSLVLKQNLTVTDRVIGGLLAGQTYHVAVVC YLRSQVRATYHGSFSTKKSQPPPPQPARSASSSTINLMVSTEPLALTETDICKLPKDEGT CRDFILKWYYDPNTKSCARFWYGGCGGNENKFGSQKECEKVCAPVLAKPGVISVMGT
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Position Chain Variation Link
complement(122)-c, adbSNP:78466992
complement(139)-g, adbSNP:113567254
complement(307)-g, cdbSNP:144189491
complement(319)-t, cdbSNP:137910388
complement(326)-c, adbSNP:74894716
complement(431)-dbSNP:
complement(431)-g, adbSNP:200025389
complement(439)-t, cdbSNP:188510971
complement(461)-g, adbSNP:111577719
complement(482)-g, adbSNP:113347765
complement(503)-t, cdbSNP:138570455
complement(535)-t, cdbSNP:112765805
complement(545)-g, cdbSNP:200887514
complement(574)-g, adbSNP:144651558
complement(575)-t, cdbSNP:201249839
complement(577)-t, adbSNP:76646066
complement(657)-t, gdbSNP:201306056
complement(694)-g, adbSNP:143819673
complement(699)-g, adbSNP:148996231
complement(705)-g, adbSNP:142329832
complement(746)-g, adbSNP:147701785
complement(751)-c, adbSNP:199632952
complement(752)-t, gdbSNP:150972216
complement(763)-g, adbSNP:200483815
complement(773)-g, adbSNP:184538194
complement(774)-t, cdbSNP:148970984
complement(861)-c, adbSNP:141560881
complement(890)-t, gdbSNP:145983482
complement(910)-t, cdbSNP:138276345
complement(971)-g, adbSNP:141586922
complement(991)-t, cdbSNP:200105833
complement(1015)-dbSNP:
complement(1015)-t, cdbSNP:116729313
complement(1043)-t, gdbSNP:201283466
complement(1053)-g, adbSNP:79606264
complement(1060)-t, cdbSNP:141609058
complement(1061)-g, adbSNP:149924028
complement(1071)-t, cdbSNP:111481402
complement(1072)-t, cdbSNP:139814458
complement(1147)-t, cdbSNP:115729513
complement(1167)-g, adbSNP:7561625
complement(1181)-t, cdbSNP:202132584
complement(1205)-t, cdbSNP:149412478
complement(1219)-t, gdbSNP:147339080
complement(1235)-t, cdbSNP:186336512
complement(1243)-t, cdbSNP:115819851
complement(1246)-t, cdbSNP:147027777
complement(1291)-g, adbSNP:200720222
complement(1307)-t, cdbSNP:140510298
complement(1309)-g, adbSNP:111402193
complement(1341)-g, adbSNP:78365682
complement(1350)-g, adbSNP:115155458
complement(1351)-t, cdbSNP:200795795
complement(1360)-t, cdbSNP:114235473
complement(1416)-g, adbSNP:189772397
complement(1432)-t, cdbSNP:146429448
complement(1434)-g, adbSNP:139016980
complement(1449)-t, cdbSNP:115182723
complement(1459)-t, cdbSNP:201106875
complement(1467)-g, adbSNP:114750216
complement(1499)-g, adbSNP:114549120
complement(1501)-t, cdbSNP:112817175
complement(1513)-t, cdbSNP:35914491
complement(1516)-g, cdbSNP:113716915
complement(1533)-t, cdbSNP:150219857
complement(1549)-t, cdbSNP:114511558
complement(1553)-g, adbSNP:181264679
complement(1577)-g, adbSNP:144746928
complement(1620)-dbSNP:
complement(1620)-g, adbSNP:202186575
complement(1670)-t, cdbSNP:200250810
complement(1674)-t, cdbSNP:112896869
complement(1678)-t, cdbSNP:121434554
complement(1756)-g, cdbSNP:112010940
complement(1760)-g, cdbSNP:113897824
complement(1763)-g, adbSNP:116794756
complement(1797)-t, cdbSNP:199969722
complement(1823)-t, cdbSNP:139498556
complement(1842)-g, adbSNP:145586177
complement(1847)-g, adbSNP:115881121
complement(1856)-t, cdbSNP:147546808
complement(1857)-g, adbSNP:115973206
complement(1898)-g, adbSNP:34741387
complement(1905)-t, cdbSNP:200205650
complement(1908)-g, adbSNP:114144694
complement(1921)-t, cdbSNP:150377792
complement(1923)-g, adbSNP:112040282
complement(1941)-c, adbSNP:141939225
complement(1973)-g, adbSNP:112913396
complement(2046)-g, adbSNP:34978064
complement(2070)-g, adbSNP:114278376
complement(2071)-c, adbSNP:34934127
complement(2076)-g, adbSNP:76576170
complement(2097)-g, adbSNP:138036318
complement(2111)-t, cdbSNP:149330325
complement(2119)-g, cdbSNP:150162992
complement(2159)-g, cdbSNP:61729841
complement(2191)-dbSNP:
complement(2191)-t, gdbSNP:111379417
complement(2199)-t, cdbSNP:34904623
complement(2221)-t, cdbSNP:140309965
complement(2233)-t, cdbSNP:149187225
complement(2235)-g, adbSNP:112662926
complement(2246)-t, cdbSNP:144501019
complement(2260)-g, adbSNP:146291186
complement(2261)-t, cdbSNP:36092870
complement(2262)-g, adbSNP:141280228
complement(2270)-g, adbSNP:115012632
complement(2281)-g, adbSNP:111584250
complement(2314)-g, adbSNP:137923508
complement(2315)-t, c, adbSNP:35227432
complement(2320)-c, adbSNP:201031137
complement(2340)-g, adbSNP:72986169
complement(2390)-g, adbSNP:141068214
complement(2422)-t, cdbSNP:142160199
complement(2432)-t, cdbSNP:144514259
complement(2446)-g, adbSNP:146794191
complement(2465)-c, adbSNP:113393241
complement(2490)-g, adbSNP:148713779
complement(2491)-t, cdbSNP:150008830
complement(2503)-g, adbSNP:147182340
complement(2516)-g, adbSNP:199504304
complement(2577)-g, adbSNP:116066149
complement(2587)-g, adbSNP:200722892
complement(2590)-t, cdbSNP:142719863
complement(2627)-g, adbSNP:116753562
complement(2704)-g, adbSNP:113155945
complement(2711)-g, adbSNP:138281601
complement(2729)-t, gdbSNP:199601240
complement(2748)-g, adbSNP:115387170
complement(2773)-c, adbSNP:77181645
complement(2802)-dbSNP:
complement(2802)-g, cdbSNP:187237497
complement(2808)-g, adbSNP:142876356
complement(2812)-g, cdbSNP:181006249
complement(2852)-g, cdbSNP:147897225
complement(2856)-g, adbSNP:114094922
complement(2920)-g, adbSNP:139653464
complement(2942)-t, adbSNP:9630964
complement(2950)-g, adbSNP:201327438
complement(2951)-g, adbSNP:111295967
complement(2974)-g, cdbSNP:115793808
complement(3014)-g, adbSNP:189356869
complement(3017)-t, cdbSNP:149310819
complement(3039)-g, adbSNP:114492689
complement(3040)-t, cdbSNP:114563217
complement(3041)-g, adbSNP:115327470
complement(3042)-t, c, adbSNP:115874872
complement(3079)-t, g, adbSNP:112827048
complement(3093)-g, adbSNP:116256579
complement(3145)-t, cdbSNP:142189600
complement(3149)-g, adbSNP:112172548
complement(3155)-t, cdbSNP:116294003
complement(3187)-t, cdbSNP:202122047
complement(3203)-t, adbSNP:199960342
complement(3243)-g, adbSNP:145203676
complement(3244)-t, cdbSNP:140437593
complement(3257)-g, adbSNP:202185764
complement(3306)-t, adbSNP:201085369
complement(3325)-t, cdbSNP:114284669
complement(3339)-g, adbSNP:34367758
complement(3348)-t, cdbSNP:200098134
complement(3372)-dbSNP:
complement(3372)-t, cdbSNP:113066678
complement(3373)-t, cdbSNP:116238578
complement(3403)-t, cdbSNP:78427077
complement(3414)-g, adbSNP:12622093
complement(3476)-g, adbSNP:112638391
complement(3483)-g, adbSNP:200621867
complement(3484)-t, cdbSNP:148175795
complement(3490)-t, cdbSNP:115297652
complement(3508)-g, adbSNP:201962257
complement(3543)-g, cdbSNP:148941053
complement(3547)-t, gdbSNP:11896521
complement(3555)-t, cdbSNP:113781746
complement(3558)-g, adbSNP:200562443
complement(3571)-g, adbSNP:114852262
complement(3572)-t, cdbSNP:200860322
complement(3609)-g, adbSNP:116239777
complement(3615)-g, adbSNP:111328076
complement(3616)-t, cdbSNP:151021451
complement(3697)-t, cdbSNP:199964760
complement(3704)-g, adbSNP:201131900
complement(3705)-t, cdbSNP:35489467
complement(3714)-c, adbSNP:146171151
complement(3730)-t, cdbSNP:113360085
complement(3731)-t, cdbSNP:36062562
complement(3741)-t, cdbSNP:112815265
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Gene SymbolCOL6A3
Gene SynonymCOL6A3
Chromosome2
Locus Map2q37
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_004369 Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. Full Length Quote
ORF Sequence Quote
NM_057164 Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 2, mRNA. Full Length $1219.75
ORF Sequence $1088.85
NM_057165 Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 3, mRNA. Full Length $1430.80
ORF Sequence $1299.90
NM_057166 Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 4, mRNA. Full Length Quote
ORF Sequence $3470.85
NM_057167 Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 5, mRNA. Full Length Quote
ORF Sequence Quote
Title A genome-wide association study of aging .
Author Walter,S., Atzmon,G., Demerath,E.W., Garcia,M.E., Kaplan,R.C., Kumari,M., Lunetta,K.L., Milaneschi,Y., Tanaka,T., Tranah,G.J., Volker,U., Yu,L., Arnold,A., Benjamin,E.J., Biffar,R., Buchman,A.S., Boerwinkle,E., Couper,D., De Jager,P.L., Evans,D.A., Harris,T.B., Hoffmann,W., Hofman,A., Karasik,D., Kiel,D.P., Kocher,T., Kuningas,M., Launer,L.J., Lohman,K.K., Lutsey,P.L., Mackenbach,J., Marciante,K., Psaty,B.M., Reiman,E.M., Rotter,J.I., Seshadri,S., Shardell,M.D., Smith,A.V., van Duijn,C., Walston,J., Zillikens,M.C., Bandinelli,S., Baumeister,S.E., Bennett,D.A., Ferrucci,L., Gudnason,V., Kivimaki,M., Liu,Y., Murabito,J.M., Newman,A.B., Tiemeier,H. and Franceschini,N.
Journal Neurobiol. Aging 32 (11), 2109 (2011)
Title Association of genetic variants with hemorrhagic stroke in Japanese individuals .
Author Yoshida,T., Kato,K., Yokoi,K., Oguri,M., Watanabe,S., Metoki,N., Yoshida,H., Satoh,K., Aoyagi,Y., Nozawa,Y. and Yamada,Y.
Journal Int. J. Mol. Med. 25 (4), 649-656 (2010)
Title Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals .
Author Oguri,M., Kato,K., Yokoi,K., Yoshida,T., Watanabe,S., Metoki,N., Yoshida,H., Satoh,K., Aoyagi,Y., Nozawa,Y. and Yamada,Y.
Journal Am. J. Hypertens. 23 (1), 70-77 (2010)
Title The 1.6 A structure of Kunitz-type domain from the alpha 3 chain of human type VI collagen .
Author Arnoux,B., Merigeau,K., Saludjian,P., Norris,F., Norris,K., Bjorn,S., Olsen,O., Petersen,L. and Ducruix,A.
Journal J. Mol. Biol. 246 (5), 609-617 (1995)
Title Integrin and Arg-Gly-Asp dependence of cell adhesion to the native and unfolded triple helix of collagen type VI .
Author Pfaff,M., Aumailley,M., Specks,U., Knolle,J., Zerwes,H.G. and Timpl,R.
Journal Exp. Cell Res. 206 (1), 167-176 (1993)
Title The human type VI collagen gene. mRNA and protein variants of the alpha 3 chain generated by alternative splicing of an additional 5-end exon .
Author Zanussi,S., Doliana,R., Segat,D., Bonaldo,P. and Colombatti,A.
Journal J. Biol. Chem. 267 (33), 24082-24089 (1992)
Title Mosaic structure of globular domains in the human type VI collagen alpha 3 chain: similarity to von Willebrand factor, fibronectin, actin, salivary proteins and aprotinin type protease inhibitors .
Author Chu,M.L., Zhang,R.Z., Pan,T.C., Stokes,D., Conway,D., Kuo,H.J., Glanville,R., Mayer,U., Mann,K., Deutzmann,R. et al.
Journal EMBO J. 9 (2), 385-393 (1990)
Title Amino acid sequence of the triple-helical domain of human collagen type VI .
Author Chu,M.L., Conway,D., Pan,T.C., Baldwin,C., Mann,K., Deutzmann,R. and Timpl,R.
Journal J. Biol. Chem. 263 (35), 18601-18606 (1988)
Title Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen .
Author Weil,D., Mattei,M.G., Passage,E., N'Guyen,V.C., Pribula-Conway,D., Mann,K., Deutzmann,R., Timpl,R. and Chu,M.L.
Journal Am. J. Hum. Genet. 42 (3), 435-445 (1988)
Title Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones .
Author Chu,M.L., Mann,K., Deutzmann,R., Pribula-Conway,D., Hsu-Chen,C.C., Bernard,M.P. and Timpl,R.
Journal Eur. J. Biochem. 168 (2), 309-317 (1987)

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