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Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu22897 Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu22897C Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant 1, mRNA. Customized vector In-stock $149.00 5-7

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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_000136.2, 56118235
Length 1677 bp
Structure linear
Update Date 24-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant 1, mRNA.
Product Fanconi anemia group C protein isoform a
Comment

Summary: The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group C. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).

RefSeq NP_000127.2
CDS 263..1939
Misc Feature(1)188..190
Misc Feature(2)188..190
Misc Feature(3)263..1936
Misc Feature(4)263..1936
Exon (1)1..184
Gene:FANCC
Gene Synonym:FA3; FAC; FACC
Exon (2)185..427
Gene:FANCC
Gene Synonym:FA3; FAC; FACC
Exon (3)428..512
Gene:FANCC
Gene Synonym:FA3; FAC; FACC
Exon (4)513..607
Gene:FANCC
Gene Synonym:FA3; FAC; FACC
Exon (5)608..718
Gene:FANCC
Gene Synonym:FA3; FAC; FACC
Exon (6)719..783
Gene:FANCC
Gene Synonym:FA3; FAC; FACC
Exon (7)784..948
Gene:FANCC
Gene Synonym:FA3; FAC; FACC
Exon (8)949..1105
Gene:FANCC
Gene Synonym:FA3; FAC; FACC
Exon (9)1106..1158
Gene:FANCC
Gene Synonym:FA3; FAC; FACC
Exon (10)1159..1258
Gene:FANCC
Gene Synonym:FA3; FAC; FACC
Exon (11)1259..1334
Gene:FANCC
Gene Synonym:FA3; FAC; FACC
Exon (12)1335..1416
Gene:FANCC
Gene Synonym:FA3; FAC; FACC
Exon (13)1417..1591
Gene:FANCC
Gene Synonym:FA3; FAC; FACC
Exon (14)1592..1795
Gene:FANCC
Gene Synonym:FA3; FAC; FACC
Exon (15)1796..4592
Gene:FANCC
Gene Synonym:FA3; FAC; FACC
Translation MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTV IERFPTIGQLLAKACWNPFILAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSH ILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASELRENHLNGFNTQRRMAPERV ASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRC ALLETDGALEIIATIQVFTQCFVEALEKASKQLRFALKTYFPYTSPSLAMVLLQDPQDIP RGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHFGGWAEMVAEQLLMSAAEPPT ALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAGQGTDTDLR APAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNRLGIES PRSEKLARELLKELRTQV
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Position Chain Variation Link
complement(33..34)-dbSNP:
complement(33..34)-, cgdbSNP:377454563
34..35+, cgdbSNP:4647349
complement(38)-g, adbSNP:182633348
complement(198)-g, adbSNP:371725430
234+a, cdbSNP:4647414
complement(235)-t, cdbSNP:202029417
complement(238)-t, gdbSNP:56095406
complement(268)-g, adbSNP:376084231
complement(290)-c, adbSNP:147479204
complement(291)-t, cdbSNP:143152201
299+c, tdbSNP:121917784
complement(300)-t, cdbSNP:199968672
complement(327)-t, cdbSNP:377294947
329+, gdbSNP:104886459
339+c, tdbSNP:1800361
complement(366)-g, cdbSNP:143212932
complement(389)-t, cdbSNP:374836770
complement(438)-dbSNP:
complement(438)-g, adbSNP:149566909
complement(439)-t, cdbSNP:111782855
complement(440)-t, cdbSNP:138629441
complement(453)-c, adbSNP:375921240
complement(471)-t, adbSNP:150174412
complement(495)-t, gdbSNP:138722298
complement(501)-t, cdbSNP:4647419
complement(501)-t, cdbSNP:386594333
complement(510)-t, cdbSNP:140992397
complement(618)-dbSNP:
complement(618)-t, gdbSNP:145346409
complement(620)-t, gdbSNP:140264282
complement(633)-g, adbSNP:374602991
complement(654)-g, adbSNP:201621236
complement(655)-g, adbSNP:111834377
complement(670)-t, cdbSNP:386545576
complement(670)-g, adbSNP:1800360
complement(678)-g, adbSNP:1800362
complement(679)-c, adbSNP:190925189
complement(730)-dbSNP:
complement(730)-t, cdbSNP:148616725
complement(732)-g, adbSNP:200828924
complement(734)-g, cdbSNP:372338418
complement(752)-t, cdbSNP:374366585
complement(793)-dbSNP:
complement(793)-g, adbSNP:150070473
complement(804)-g, adbSNP:182879858
complement(812)-t, adbSNP:41306494
815+c, tdbSNP:121917783
complement(816)-t, cdbSNP:370346767
complement(827)-t, gdbSNP:377620735
830+c, tdbSNP:1800364
846+a, tdbSNP:1800365
complement(858)-g, adbSNP:143213659
complement(882)-t, adbSNP:202038890
complement(887)-g, adbSNP:373270404
complement(894)-g, cdbSNP:140781259
complement(934)-g, adbSNP:150647141
complement(935)-g, cdbSNP:374176091
complement(948)-c, adbSNP:369770340
complement(952)-dbSNP:
complement(952)-t, cdbSNP:199744457
954..956+, agadbSNP:3831244
complement(967)-g, adbSNP:141828876
complement(1052)-t, cdbSNP:111657009
complement(1062)-t, cdbSNP:200854639
complement(1078)-g, adbSNP:55719336
complement(1079)-t, cdbSNP:143181565
complement(1088)-t, cdbSNP:377085045
complement(1102)-t, cdbSNP:34671520
complement(1113)-dbSNP:
complement(1113)-g, adbSNP:201281511
1122+g, tdbSNP:76486610
complement(1139)-g, cdbSNP:376044404
complement(1177)-dbSNP:
complement(1177)-g, adbSNP:138132690
1196+a, gdbSNP:1800366
complement(1235)-t, cdbSNP:201407189
complement(1236)-g, adbSNP:367618818
complement(1252)-g, cdbSNP:374915316
complement(1259)-dbSNP:
complement(1259)-g, cdbSNP:199746448
complement(1262)-g, adbSNP:140348260
complement(1263)-t, cdbSNP:377468919
1268+a, cdbSNP:78555330
complement(1277)-t, adbSNP:145497019
complement(1328)-g, adbSNP:367924414
complement(1418)-dbSNP:
complement(1418)-g, adbSNP:41281202
complement(1424)-t, cdbSNP:371897078
complement(1464)-t, cdbSNP:71498691
complement(1503)-g, adbSNP:200719554
complement(1511)-t, cdbSNP:140687953
complement(1559)-g, adbSNP:369684405
complement(1569)-t, cdbSNP:201549126
complement(1589)-t, cdbSNP:150941781
complement(1607)-dbSNP:
complement(1607)-g, adbSNP:1800367
complement(1613)-t, cdbSNP:141805918
complement(1636)-t, gdbSNP:56394801
1656+a, gdbSNP:1800368
complement(1668)-g, adbSNP:149917017
complement(1668)-g, adbSNP:386446455
complement(1669)-t, cdbSNP:79722116
complement(1676)-t, cdbSNP:201063698
complement(1687)-t, cdbSNP:199739450
complement(1744)-g, cdbSNP:200423281
complement(1747)-t, cdbSNP:56082100
complement(1747)-g, adbSNP:386446378
1749+g, tdbSNP:121917785
complement(1756)-g, adbSNP:76895298
complement(1771)-t, cdbSNP:144278080
complement(1792)-g, adbSNP:372199352
complement(1806)-dbSNP:
complement(1806)-g, cdbSNP:201379302
complement(1822)-g, adbSNP:150020474
complement(1857)-t, cdbSNP:55939573
complement(1865)-g, adbSNP:185822330
complement(1885)-c, adbSNP:375362894
1904+c, tdbSNP:104886457
1923+c, tdbSNP:104886458
complement(1925)-g, adbSNP:370974124
complement(1926)-t, cdbSNP:369636116
complement(1944)-g, adbSNP:117175949
complement(1946)-g, adbSNP:372511678
complement(1948)-g, adbSNP:370270817
complement(1969)-t, cdbSNP:375908568
complement(1975..1976)-, adbSNP:34831009
complement(1976)-t, adbSNP:76092534
complement(1977)-t, adbSNP:76575945
complement(1977)-, adbSNP:34760720
complement(1981)-t, cdbSNP:7029888
complement(1985)-t, cdbSNP:369503655
complement(2009)-t, cdbSNP:369235858
complement(2016)-t, cdbSNP:56383909
complement(2035)-t, cdbSNP:55687573
complement(2055)-t, gdbSNP:7048910
complement(2082)-t, cdbSNP:189154697
complement(2152)-c, adbSNP:184733418
complement(2186)-g, adbSNP:369774588
complement(2189)-t, cdbSNP:193261247
complement(2298)-g, adbSNP:4647551
complement(2333)-t, cdbSNP:143389232
complement(2389)-t, cdbSNP:149227790
complement(2423)-t, cdbSNP:138260241
2524+a, gdbSNP:4647552
complement(2524)-t, cdbSNP:386594351
complement(2526)-g, adbSNP:190544450
complement(2533)-g, adbSNP:202002506
complement(2542..2543)-, cadbSNP:373641072
complement(2543..2544)-, acdbSNP:56271854
complement(2599)-g, adbSNP:114612660
complement(2606)-g, adbSNP:150462386
2647+g, tdbSNP:4647553
complement(2662..2665)-, aactdbSNP:56250966
complement(2922)-g, adbSNP:56059656
complement(2923)-t, cdbSNP:3780559
complement(2998)-, tdbSNP:34302466
complement(3010)-c, adbSNP:55897369
complement(3035)-g, adbSNP:111688138
complement(3071..3072)-, cdbSNP:34108689
complement(3124)-c, adbSNP:184467569
complement(3161)-t, adbSNP:56737425
complement(3163)-c, adbSNP:56280046
3201+c, tdbSNP:45520432
complement(3202)-t, cdbSNP:374807520
3227+c, tdbSNP:4647554
complement(3271)-t, cdbSNP:191983554
complement(3278)-g, adbSNP:144155068
complement(3318)-g, cdbSNP:55901384
3396+c, tdbSNP:4647555
complement(3396)-g, adbSNP:386594352
complement(3418..3419)-, tgdbSNP:200838550
complement(3419..3453)-, gcacgaagcatgttatatgaaggcaatgaccatgadbSNP:55962383
complement(3424)-t, cdbSNP:376053431
complement(3434)-c, adbSNP:41281198
complement(3491)-t, cdbSNP:368208316
complement(3551)-g, adbSNP:56138409
complement(3601)-t, cdbSNP:4647556
complement(3614)-t, cdbSNP:183099416
complement(3626)-t, cdbSNP:142666620
3666+a, tdbSNP:4647557
3810+a, gdbSNP:4647558
complement(3818)-g, adbSNP:192262179
complement(3834)-g, adbSNP:56161090
complement(3841)-t, cdbSNP:144528669
complement(3906)-g, adbSNP:372025586
complement(3907)-t, cdbSNP:114827984
complement(3973)-g, adbSNP:374437528
complement(4024)-c, adbSNP:4647559
4105+c, gdbSNP:4647560
complement(4145)-t, cdbSNP:149721185
4208+a, tdbSNP:4647561
complement(4318)-g, adbSNP:188879574
complement(4352)-g, adbSNP:368233355
complement(4420)-g, adbSNP:139570687
complement(4463)-t, cdbSNP:56199232
4491+c, tdbSNP:9673
Gene SymbolFANCC
Gene SynonymFA3; FAC; FACC
Chromosome9
Locus Map9q22.3
Title FANCA and FANCC modulate TLR and p38 MAPK-dependent expression of IL-1beta in macrophages .
Author Garbati MR, Hays LE, Keeble W, Yates JE, Rathbun RK and Bagby GC.
Journal Blood 122 (18), 3197-3205 (2013)
Title Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles .
Author Thompson ER, Doyle MA, Ryland GL, Rowley SM, Choong DY, Tothill RW, Thorne H, Barnes DR, Li J, Ellul J, Philip GK, Antill YC, James PA, Trainer AH, Mitchell G and Campbell IG.
Journal PLoS Genet. 8 (9), E1002894 (2012)
Title Association of FANCC and PTCH1 with the development of early dysplastic lesions of the head and neck .
Author Ghosh A, Ghosh S, Maiti GP, Mukherjee S, Mukherjee N, Chakraborty J, Roy A, Roychoudhury S and Panda CK.
Journal Ann. Surg. Oncol. 19 (SUPPL 3), S528-S538 (2012)
Title Upregulation of Fanconi anemia DNA repair genes in melanoma compared with non-melanoma skin cancer .
Author Kao,W.H., Riker,A.I., Kushwaha,D.S., Ng,K., Enkemann,S.A., Jove,R., Buettner,R., Zinn,P.O., Sanchez,N.P., Villa,J.L., D'Andrea,A.D., Sanchez,J.L., Kennedy,R.D., Chen,C.C. and Matta,J.L.
Journal J. Invest. Dermatol. 131 (10), 2139-2142 (2011)
Title Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population .
Author Verlander PC, Kaporis A, Liu Q, Zhang Q, Seligsohn U and Auerbach AD.
Journal Blood 86 (11), 4034-4038 (1995)
Title Esophageal Atresia/Tracheoesophageal Fistula Overview .
Author Scott,D.A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Fanconi Anemia .
Author Alter,B.P. and Kupfer,G.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Cloning of cDNAs for Fanconi's anaemia by functional complementation .
Author Strathdee,C.A., Gavish,H., Shannon,W.R. and Buchwald,M.
Journal Nature 358 (6385), 434 (1992)
Title Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9 .
Author Strathdee CA, Duncan AM and Buchwald M.
Journal Nat. Genet. 1 (3), 196-198 (1992)
Title Cloning of cDNAs for Fanconi's anaemia by functional complementation .
Author Strathdee CA, Gavish H, Shannon WR and Buchwald M.
Journal Nature 356 (6372), 763-767 (1992)

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