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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000136 Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12

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RefSeq Version NM_000136.2, 56118235
Length 4612 bp
Structure linear
Update Date 17-APR-2013
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..1891
Misc Feature(4)263..1891
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(34..35)-dbSNP:
complement(34..35)-, cgdbSNP:4647349
complement(38)-g, adbSNP:182633348
complement(234)-c, adbSNP:4647414
complement(235)-t, cdbSNP:202029417
complement(238)-t, gdbSNP:56095406
complement(290)-c, adbSNP:147479204
complement(291)-t, cdbSNP:143152201
complement(299)-t, cdbSNP:121917784
complement(300)-t, cdbSNP:199968672
complement(329)-, gdbSNP:104886459
complement(339)-t, cdbSNP:1800361
complement(366)-g, cdbSNP:143212932
complement(438)-dbSNP:
complement(438)-g, adbSNP:149566909
complement(439)-t, cdbSNP:111782855
complement(440)-t, cdbSNP:138629441
complement(471)-t, adbSNP:150174412
complement(495)-t, gdbSNP:138722298
complement(501)-t, cdbSNP:4647419
complement(510)-t, cdbSNP:140992397
complement(617)-dbSNP:
complement(617)-t, adbSNP:146499206
complement(618)-t, gdbSNP:145346409
complement(620)-t, gdbSNP:140264282
complement(654)-g, adbSNP:201621236
complement(655)-g, adbSNP:111834377
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(793)-dbSNP:
complement(793)-g, adbSNP:150070473
complement(804)-g, adbSNP:182879858
complement(812)-t, adbSNP:41306494
complement(815)-t, cdbSNP:121917783
complement(830)-t, cdbSNP:1800364
complement(846)-t, adbSNP:1800365
complement(858)-g, adbSNP:143213659
complement(882)-t, adbSNP:202038890
complement(894)-g, cdbSNP:140781259
complement(934)-g, adbSNP:150647141
complement(952)-dbSNP:
complement(952)-t, cdbSNP:199744457
complement(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(1102)-t, cdbSNP:34671520
complement(1113)-dbSNP:
complement(1113)-g, adbSNP:201281511
complement(1122)-t, gdbSNP:76486610
complement(1177)-dbSNP:
complement(1177)-g, adbSNP:138132690
complement(1196)-g, adbSNP:1800366
complement(1235)-t, cdbSNP:201407189
complement(1259)-dbSNP:
complement(1259)-g, cdbSNP:199746448
complement(1262)-g, adbSNP:140348260
complement(1268)-c, adbSNP:78555330
complement(1277)-t, adbSNP:145497019
complement(1418)-dbSNP:
complement(1418)-g, adbSNP:41281202
complement(1464)-t, cdbSNP:71498691
complement(1503)-g, adbSNP:200719554
complement(1511)-t, cdbSNP:140687953
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
complement(1656)-g, adbSNP:1800368
complement(1668)-g, adbSNP:149917017
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(1749)-t, gdbSNP:121917785
complement(1756)-g, adbSNP:76895298
complement(1771)-t, cdbSNP:144278080
complement(1806)-dbSNP:
complement(1806)-g, cdbSNP:201379302
complement(1822)-g, adbSNP:150020474
complement(1857)-t, cdbSNP:55939573
complement(1865)-g, adbSNP:185822330
complement(1904)-t, cdbSNP:104886457
complement(1923)-t, cdbSNP:104886458
complement(1944)-g, adbSNP:117175949
complement(1976..1977)-, adbSNP:34831009
complement(1976)-t, adbSNP:76092534
complement(1977)-t, adbSNP:76575945
complement(1977)-, adbSNP:34760720
complement(1981)-t, cdbSNP:7029888
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(2189)-t, cdbSNP:193261247
complement(2298)-g, adbSNP:4647551
complement(2333)-t, cdbSNP:143389232
complement(2389)-t, cdbSNP:149227790
complement(2423)-t, cdbSNP:138260241
complement(2524)-g, adbSNP:4647552
complement(2526)-g, adbSNP:190544450
complement(2533)-g, adbSNP:202002506
complement(2543..2544)-, acdbSNP:56271854
complement(2599)-g, adbSNP:114612660
complement(2606)-g, adbSNP:150462386
complement(2647)-t, gdbSNP:4647553
complement(2662..2665)-, aactdbSNP:143598141
complement(2665)-, aactdbSNP:56250966
complement(2922)-g, adbSNP:56059656
complement(2923)-t, cdbSNP:3780559
complement(3004)-, tdbSNP:34302466
complement(3010)-c, adbSNP:55897369
complement(3035)-g, adbSNP:111688138
complement(3073..3074)-, cdbSNP:34108689
complement(3124)-c, adbSNP:184467569
complement(3161)-t, adbSNP:56737425
complement(3163)-c, adbSNP:56280046
complement(3201)-t, cdbSNP:45520432
complement(3227)-t, cdbSNP:4647554
complement(3271)-t, cdbSNP:191983554
complement(3278)-g, adbSNP:144155068
complement(3318)-g, cdbSNP:55901384
complement(3396)-t, cdbSNP:4647555
complement(3417..3418)-, tgdbSNP:72229241
complement(3418..3419)-, tgdbSNP:200838550
complement(3419..3453)-, gcacgaagcatgttatatgaaggcaatgaccatgadbSNP:55962383
complement(3434)-c, adbSNP:41281198
complement(3551)-g, adbSNP:56138409
complement(3601)-t, cdbSNP:4647556
complement(3614)-t, cdbSNP:183099416
complement(3626)-t, cdbSNP:142666620
complement(3666)-t, adbSNP:4647557
complement(3810)-g, adbSNP:4647558
complement(3818)-g, adbSNP:192262179
complement(3834)-g, adbSNP:56161090
complement(3841)-t, cdbSNP:144528669
complement(3907)-t, cdbSNP:114827984
complement(4024)-c, adbSNP:4647559
complement(4105)-g, cdbSNP:4647560
complement(4145)-t, cdbSNP:149721185
complement(4208)-t, adbSNP:4647561
complement(4318)-g, adbSNP:188879574
complement(4420)-g, adbSNP:139570687
complement(4463)-t, cdbSNP:56199232
complement(4491)-t, cdbSNP:9673
Gene SymbolFANCC
Gene SynonymFA3; FAC; FACC
Chromosome9
Locus Map9q22.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000136 Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant 1, mRNA. In-stock $509.00 $460.00 12
NM_001243743 Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant 2, mRNA. In-stock $509.00 $460.00 12
NM_001243744 Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant 3, mRNA. On-demand $699.00 18
Title Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles .
Author Thompson,E.R., Doyle,M.A., Ryland,G.L., Rowley,S.M., Choong,D.Y., Tothill,R.W., Thorne,H., Barnes,D.R., Li,J., Ellul,J., Philip,G.K., Antill,Y.C., James,P.A., Trainer,A.H., Mitchell,G. and Campbell,I.G.
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,G.P., Mukherjee,S., Mukherjee,N., Chakraborty,J., Roy,A., Roychoudhury,S. and Panda,C.K.
Journal Ann. Surg. Oncol. 19 (SUPPL 3), S528-S538 (2012)
Title Association of FANCC polymorphisms with FEV1 decline in aspirin exacerbated respiratory disease .
Author Kim,J.H., Park,B.L., Pasaje,C.F., Bae,J.S., Park,J.S., Park,S.W., Uh,S.T., Choi,J.S., Kim,Y.H., Kim,M.K., Choi,I.S., Cho,S.H., Choi,B.W., Park,C.S. and Shin,H.D.
Journal Mol. Biol. Rep. 39 (3), 2385-2394 (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 Evaluation of Fanconi anaemia genes FANCA, FANCC and FANCL in cervical cancer susceptibility .
Author Juko-Pecirep,I., Ivansson,E.L. and Gyllensten,U.B.
Journal Gynecol. Oncol. 122 (2), 377-381 (2011)
Title Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population .
Author Verlander,P.C., Kaporis,A., Liu,Q., Zhang,Q., Seligsohn,U. and Auerbach,A.D.
Journal Blood 86 (11), 4034-4038 (1995)
Title The Fanconi anemia polypeptide FACC is localized to the cytoplasm .
Author Yamashita,T., Barber,D.L., Zhu,Y., Wu,N. and D'Andrea,A.D.
Journal Proc. Natl. Acad. Sci. U.S.A. 91 (14), 6712-6716 (1994)
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,C.A., Duncan,A.M. and Buchwald,M.
Journal Nat. Genet. 1 (3), 196-198 (1992)
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 356 (6372), 763-767 (1992)


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