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Homo sapiens keratin 12 (KRT12), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000223 Homo sapiens keratin 12 (KRT12), mRNA. GenEZ ORF Cloning On-demand $699.00 18

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RefSeq Version NM_000223.3, 156602658
Length 1992 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens keratin 12 (KRT12), mRNA.
Product keratin, type I cytoskeletal 12
Comment

Summary: KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy. [provided by RefSeq, Jul 2008].

RefSeq NP_000214.1
CDS 25..1509
Misc Feature(1)25..396
Misc Feature(2)25..396
Misc Feature(3)397..1332
Misc Feature(4)397..1329
Misc Feature(5)397..504
Misc Feature(6)514..570
Misc Feature(7)571..846
Misc Feature(8)847..915
Misc Feature(9)916..1329
Misc Feature(10)1330..1506
Exon (1)592..674
Gene:KRT12
Gene Synonym:K12
Exon (2)675..831
Gene:KRT12
Gene Synonym:K12
Exon (3)832..993
Gene:KRT12
Gene Synonym:K12
Exon (4)994..1119
Gene:KRT12
Gene Synonym:K12
Exon (5)1120..1340
Gene:KRT12
Gene Synonym:K12
Exon (6)1341..1411
Gene:KRT12
Gene Synonym:K12
Exon (7)1412..1992
Gene:KRT12
Gene Synonym:K12
Translation MDLSNNTMSLSVRTPGLSRRLSSQSVIGRPRGMSASSVGSGYGGSAFGFGASCGGGFSAA SMFGSSSGFGGGSGSSMAGGLGAGYGRALGGGSFGGLGMGFGGSPGGGSLGILSGNDGGL LSGSEKETMQNLNDRLASYLDKVRALEEANTELENKIREWYETRGTGTADASQSDYSKYY PLIEDLRNKIISASIGNAQLLLQIDNARLAAEDFRMKYENELALRQGVEADINGLRRVLD ELTLTRTDLEMQIESLNEELAYMKKNHEDELQSFRVGGPGEVSVEMDAAPGVDLTRLLND MRAQYETIAEQNRKDAEAWFIEKSGELRKEISTNTEQLQSSKSEVTDLRRAFQNLEIELQ SQLAMKKSLEDSLAEAEGDYCAQLSQVQQLISNLEAQLLQVRADAERQNVDHQRLLNVKA RLELEIETYRRLLDGEAQGDGLEESLFVTDSKSQAQSTDSSKDPTKTRKIKTVVQEMVNG EVVSSQVQEIEELM
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Position Chain Variation Link
complement(36..37)-, gdbSNP:34871978
complement(67)-g, adbSNP:11650915
complement(69)-g, adbSNP:199775745
complement(79)-g, c, adbSNP:200258980
complement(82)-g, adbSNP:17566772
complement(154)-t, cdbSNP:146312988
complement(184)-t, g, cdbSNP:141949869
complement(221)-g, cdbSNP:202056647
complement(244)-t, cdbSNP:138169839
complement(321)-t, cdbSNP:144158374
complement(326)-g, adbSNP:150377929
complement(335)-t, cdbSNP:201147294
complement(372)-g, adbSNP:199968040
complement(406)-t, cdbSNP:149532038
complement(409)-g, adbSNP:267607387
complement(410)-t, cdbSNP:28936695
complement(413)-c, adbSNP:58864803
complement(423)-t, gdbSNP:61167390
complement(427)-g, adbSNP:58410481
complement(428)-t, g, cdbSNP:57218384
complement(429)-c, adbSNP:61282718
complement(433)-g, cdbSNP:58038639
complement(441)-g, adbSNP:140356245
complement(443)-t, gdbSNP:58918655
complement(451)-t, g, cdbSNP:58343600
complement(456)-t, cdbSNP:112885629
complement(461)-g, adbSNP:200829208
complement(464)-t, cdbSNP:202053238
complement(467)-t, cdbSNP:113833263
complement(470)-g, adbSNP:148250043
complement(497)-t, cdbSNP:143115820
complement(524)-c, adbSNP:74952061
complement(547)-t, cdbSNP:200941376
complement(635)-dbSNP:
complement(635)-g, adbSNP:149066278
complement(641)-t, cdbSNP:147584242
complement(688)-dbSNP:
complement(688)-g, adbSNP:200506470
complement(714)-g, adbSNP:145069399
complement(722)-t, cdbSNP:200678860
complement(730)-g, adbSNP:141121767
complement(739)-g, cdbSNP:199790779
complement(745)-t, cdbSNP:147759075
complement(752)-g, adbSNP:61735165
complement(765)-g, adbSNP:61735166
complement(766)-t, cdbSNP:150674571
complement(772)-g, cdbSNP:200190342
complement(811)-t, cdbSNP:201109047
complement(825)-g, adbSNP:202023486
complement(849)-dbSNP:
complement(849)-t, cdbSNP:142915764
complement(920)-t, cdbSNP:200497999
complement(926)-g, adbSNP:139647784
complement(952)-t, cdbSNP:188868101
complement(969)-t, gdbSNP:200871858
complement(997)-dbSNP:
complement(997)-t, cdbSNP:146332400
complement(1029)-t, gdbSNP:141997440
complement(1117)-t, cdbSNP:200354173
complement(1151)-dbSNP:
complement(1151)-g, adbSNP:200553689
complement(1180)-t, gdbSNP:201445680
complement(1183)-c, adbSNP:144269064
complement(1191)-t, cdbSNP:144211010
complement(1253)-c, adbSNP:202225978
complement(1266)-t, cdbSNP:140740946
complement(1300)-g, adbSNP:59465138
complement(1301)-t, gdbSNP:59350319
complement(1309)-t, gdbSNP:58162394
complement(1310)-g, adbSNP:59202432
complement(1313)-g, cdbSNP:62635290
complement(1322)-t, gdbSNP:267607386
complement(1327)-g, cdbSNP:149329225
complement(1427)-dbSNP:
complement(1427)-t, cdbSNP:74804130
complement(1448)-t, cdbSNP:150149178
complement(1480)-g, cdbSNP:186050235
complement(1531)-g, adbSNP:112986245
complement(1751)-g, adbSNP:180699112
complement(1781)-g, cdbSNP:192003477
complement(1839)-t, gdbSNP:146258973
complement(1869)-t, gdbSNP:62065925
complement(1917)-t, cdbSNP:139900829
complement(1981..1982)-, gdbSNP:35385537
complement(1985)-, tdbSNP:199542870
Gene SymbolKRT12
Gene SynonymK12
Chromosome17
Locus Map17q12
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000223 Homo sapiens keratin 12 (KRT12), mRNA. On-demand $699.00 18
Title Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy .
Author Allen,E.H., Atkinson,S.D., Liao,H., Moore,J.E., Leslie Pedrioli,D.M., Smith,F.J., McLean,W.H. and Moore,C.B.
Journal Invest. Ophthalmol. Vis. Sci. 54 (1), 494-502 (2013)
Title Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family .
Author Clausen,I., Duncker,G.I. and Grunauer-Kloevekorn,C.
Journal Mol. Vis. 16, 954-960 (2010)
Title A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy .
Author Seto,T., Fujiki,K., Kishishita,H., Fujimaki,T., Murakami,A. and Kanai,A.
Journal Jpn. J. Ophthalmol. 52 (3), 224-226 (2008)
Title A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family .
Author Nielsen,K., Orntoft,T., Hjortdal,J., Rasmussen,T. and Ehlers,N.
Journal Cornea 27 (1), 100-102 (2008)
Title A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy .
Author Sullivan,L.S., Baylin,E.B., Font,R., Daiger,S.P., Pepose,J.S., Clinch,T.E., Nakamura,H., Zhao,X.C. and Yee,R.W.
Journal Mol. Vis. 13, 975-980 (2007)
Title A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy .
Author Corden,L.D., Swensson,O., Swensson,B., Rochels,R., Wannke,B., Thiel,H.J. and McLean,W.H.
Journal Br J Ophthalmol 84 (5), 527-530 (2000)
Title Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene .
Author Corden,L.D., Swensson,O., Swensson,B., Smith,F.J., Rochels,R., Uitto,J. and McLEAN,W.H.
Journal Exp. Eye Res. 70 (1), 41-49 (2000)
Title Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy .
Author Nishida,K., Honma,Y., Dota,A., Kawasaki,S., Adachi,W., Nakamura,T., Quantock,A.J., Hosotani,H., Yamamoto,S., Okada,M., Shimomura,Y. and Kinoshita,S.
Journal Am. J. Hum. Genet. 61 (6), 1268-1275 (1997)
Title Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy .
Author Irvine,A.D., Corden,L.D., Swensson,O., Swensson,B., Moore,J.E., Frazer,D.G., Smith,F.J., Knowlton,R.G., Christophers,E., Rochels,R., Uitto,J. and McLean,W.H.
Journal Nat. Genet. 16 (2), 184-187 (1997)
Title A gene expression profile of human corneal epithelium and the isolation of human keratin 12 cDNA .
Author Nishida,K., Adachi,W., Shimizu-Matsumoto,A., Kinoshita,S., Mizuno,K., Matsubara,K. and Okubo,K.
Journal Invest. Ophthalmol. Vis. Sci. 37 (9), 1800-1809 (1996)


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