• THAT   AND
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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000492 Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. GenEZ ORF Cloning On-demand $1699.00 25

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RefSeq Version NM_000492.3, 90421312
Length 6132 bp
Structure linear
Update Date 25-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.
Product cystic fibrosis transmembrane conductance regulator
Comment

Summary: This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. [provided by RefSeq, Jul 2008].

RefSeq NP_000483.3
CDS 133..4575
Misc Feature(1)67..69
Misc Feature(2)133..4572
Misc Feature(3)133..4572
Misc Feature(4)373..441
Misc Feature(5)379..1182
Misc Feature(6)484..546
Misc Feature(7)715..777
Misc Feature(8)793..855
Misc Feature(9)1003..1005
Misc Feature(10)1054..1116
Misc Feature(11)1123..1182
Misc Feature(12)1297..2142
Misc Feature(13)1504..1527
Misc Feature(14)order(1513..1518,1522..1530,1609..1611,1846..1851,
Misc Feature(15)1600..1611
Misc Feature(16)1774..1803
Misc Feature(17)1777..1779
Misc Feature(18)1834..1851
Misc Feature(19)1858..1869
Misc Feature(20)1933..1953
Misc Feature(21)2047..2682
Misc Feature(22)2110..2112
Misc Feature(23)2110..2112
Misc Feature(24)2188..2190
Misc Feature(25)2188..2190
Misc Feature(26)2230..2232
Misc Feature(27)2230..2232
Misc Feature(28)2230..2232
Misc Feature(29)2266..2268
Misc Feature(30)2281..2283
Misc Feature(31)2341..2343
Misc Feature(32)2341..2343
Misc Feature(33)2341..2343
Misc Feature(34)2389..2391
Misc Feature(35)2434..2436
Misc Feature(36)2434..2436
Misc Feature(37)2434..2436
Misc Feature(38)2500..2502
Misc Feature(39)2500..2502
Misc Feature(40)2515..2517
Misc Feature(41)2515..2517
Misc Feature(42)2515..2517
Misc Feature(43)2569..2571
Misc Feature(44)2569..2571
Misc Feature(45)2569..2571
Misc Feature(46)2710..2772
Misc Feature(47)2716..3573
Misc Feature(48)2866..2928
Misc Feature(49)3103..3165
Misc Feature(50)3172..3234
Misc Feature(51)3439..3501
Misc Feature(52)3517..3579
Misc Feature(53)3754..4572
Misc Feature(54)3862..3885
Misc Feature(55)order(3871..3876,3880..3888,4003..4005,4240..4245,
Misc Feature(56)3994..4005
Misc Feature(57)4168..4197
Misc Feature(58)4228..4245
Misc Feature(59)4252..4263
Misc Feature(60)4324..4344
Misc Feature(61)4462..4464
Misc Feature(62)4498..4500
Misc Feature(63)4564..4572
Exon (1)1..185
Gene:CFTR
Gene Synonym:ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Exon (2)186..296
Gene:CFTR
Gene Synonym:ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Exon (3)297..405
Gene:CFTR
Gene Synonym:ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Exon (4)406..621
Gene:CFTR
Gene Synonym:ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Exon (5)622..711
Gene:CFTR
Gene Synonym:ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Exon (6)712..875
Gene:CFTR
Gene Synonym:ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Exon (7)876..1001
Gene:CFTR
Gene Synonym:ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Exon (8)1002..1248
Gene:CFTR
Gene Synonym:ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Exon (9)1249..1341
Gene:CFTR
Gene Synonym:ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Exon (10)1342..1524
Gene:CFTR
Gene Synonym:ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Exon (11)1525..1716
Gene:CFTR
Gene Synonym:ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Exon (12)1717..1811
Gene:CFTR
Gene Synonym:ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Exon (13)1812..1898
Gene:CFTR
Gene Synonym:ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Exon (14)1899..2622
Gene:CFTR
Gene Synonym:ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Exon (15)2623..2751
Gene:CFTR
Gene Synonym:ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Exon (16)2752..2789
Gene:CFTR
Gene Synonym:ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Exon (17)2790..3040
Gene:CFTR
Gene Synonym:ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Exon (18)3041..3120
Gene:CFTR
Gene Synonym:ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Exon (19)3121..3271
Gene:CFTR
Gene Synonym:ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Exon (20)3272..3499
Gene:CFTR
Gene Synonym:ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Exon (21)3500..3600
Gene:CFTR
Gene Synonym:ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Exon (22)3601..3849
Gene:CFTR
Gene Synonym:ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Exon (23)3850..4005
Gene:CFTR
Gene Synonym:ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Exon (24)4006..4095
Gene:CFTR
Gene Synonym:ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Exon (25)4096..4268
Gene:CFTR
Gene Synonym:ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Exon (26)4269..4374
Gene:CFTR
Gene Synonym:ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Exon (27)4375..6132
Gene:CFTR
Gene Synonym:ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Translation MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRE LASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIA IYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQL VSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGL GRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAA YVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQT WYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRK TSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEG KIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIV LGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTR ILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNS ILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQ MNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQG QNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESI PAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRN NSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAP MSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATV PVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHK ALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIM STLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKK DDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRL LNTEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVAD EVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVT YQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQA ISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL
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Position Chain Variation Link
15+a, gdbSNP:1800070
124..146+, cgagagaccatgcagaggtcgccdbSNP:397508136
125+c, gdbSNP:1800501
129+c, gdbSNP:369326781
133+a, gdbSNP:397508328
134+a, c, tdbSNP:397508476
135+a, g, tdbSNP:397508657
136+c, tdbSNP:397508740
143+a, cdbSNP:397508173
146+c, tdbSNP:193922501
151+g, tdbSNP:121909045
156+a, gdbSNP:1800071
163+a, gdbSNP:1800072
170+c, tdbSNP:397508635
172+a, tdbSNP:397508673
174+, adbSNP:397508710
175..176+, tdbSNP:397508714
175+, cdbSNP:397508715
182..183+, ttdbSNP:397508739
182+, tdbSNP:397508742
189+g, tdbSNP:397508762
204+a, c, gdbSNP:55773134
211+a, c, g, tdbSNP:397508796
212+a, gdbSNP:397508797
212+, gdbSNP:397508798
220+c, tdbSNP:397508815
223+c, tdbSNP:1800073
224+a, g, tdbSNP:149353983
227+c, tdbSNP:397508821
232..249+, ttgtcagacatataccaadbSNP:397508141
237..238+, adbSNP:397508149
243..244+, atdbSNP:397508162
244..245+, tadbSNP:397508164
244+c, tdbSNP:373112861
246+c, gdbSNP:193922498
247+c, tdbSNP:397508168
252+c, tdbSNP:376538363
257+c, tdbSNP:143456784
259+a, gdbSNP:370586917
263+a, g, tdbSNP:1800074
269+a, c, tdbSNP:151020603
279+a, gdbSNP:140444668
280+c, tdbSNP:397508217
281+a, cdbSNP:397508220
298+dbSNP:
298+a, gdbSNP:397508256
300+, adbSNP:397508269
301+c, g, tdbSNP:397508272
302+a, gdbSNP:397508279
303+a, gdbSNP:121909025
304+a, gdbSNP:397508285
305+a, gdbSNP:397508291
306..309+, tagadbSNP:397508295
306..307+, adbSNP:397508294
332+c, tdbSNP:368505753
334+a, gdbSNP:397508332
336+a, tdbSNP:397508335
337+a, cdbSNP:372421038
345+c, tdbSNP:1800075
347+a, cdbSNP:397508347
349+, cdbSNP:397508348
352+c, tdbSNP:115545701
352+c, tdbSNP:386434940
353+a, gdbSNP:142540482
355+c, tdbSNP:121908749
356+a, g, tdbSNP:1800076
359..360+, tdbSNP:397508360
360..361+, tdbSNP:397508362
365..366+, tdbSNP:397508366
365+, tdbSNP:397508367
367+c, tdbSNP:397508370
368+a, gdbSNP:397508371
386+a, g, tdbSNP:75961395
390+a, cdbSNP:374992300
391+a, c, tdbSNP:397508403
395..396+, aadbSNP:202148006
395+a, c, g, tdbSNP:397508412
396+a, cdbSNP:149662778
398+a, gdbSNP:397508418
401+c, tdbSNP:397508421
403+a, gdbSNP:121908750
406+a, g, tdbSNP:121908751
408+a, tdbSNP:397508432
419+a, cdbSNP:397508449
424+c, tdbSNP:397508461
425+a, c, gdbSNP:397508464
428+c, tdbSNP:397508467
430+c, gdbSNP:375543675
434+c, g, tdbSNP:397508484
435..436+, adbSNP:397508486
437+c, tdbSNP:397508490
442+, adbSNP:397508499
442+a, gdbSNP:369715785
445+, adbSNP:121908801
446+a, tdbSNP:397508509
451..458+, gcttcctadbSNP:397508516
455+c, tdbSNP:397508520
457..459+g, tatdbSNP:121908798
457+a, tdbSNP:397508522
458..459+, atdbSNP:397508526
458+a, gdbSNP:121909031
459+a, tdbSNP:397508528
460+c, g, tdbSNP:113993958
460+, gdbSNP:397508530
462+a, cdbSNP:397508537
463+c, gdbSNP:397508541
464+c, tdbSNP:140502196
470+a, tdbSNP:397508551
472+a, tdbSNP:397508554
475..477+, gagdbSNP:397508563
476+a, tdbSNP:149706251
478+a, c, gdbSNP:397508571
481+c, g, tdbSNP:77834169
482+a, c, g, tdbSNP:78655421
485..486+, cdbSNP:35871908
487+a, gdbSNP:193922518
489+, cdbSNP:397508583
490+a, gdbSNP:201958172
492+a, gdbSNP:1800077
496+c, tdbSNP:397508592
497+a, gdbSNP:377295859
498+a, tdbSNP:79660178
502+c, gdbSNP:193922519
506+c, tdbSNP:141723617
508+a, gdbSNP:397508606
509+a, gdbSNP:397508609
512+g, tdbSNP:397508611
514..515+, tatdbSNP:193922521
519+, tdbSNP:397508627
520+c, gdbSNP:397508632
525+, tdbSNP:397508647
541..544+, ctccdbSNP:397508671
541+, cdbSNP:397508672
542+a, g, tdbSNP:397508674
544..545+, actdbSNP:397508679
545+c, tdbSNP:1800078
546..547+, ctadbSNP:397508686
547..548+, gadbSNP:397508687
548+a, g, tdbSNP:76371115
550+c, tdbSNP:145900055
551+c, tdbSNP:397508694
552..553+, adbSNP:397508698
554+a, cdbSNP:397508700
556+, adbSNP:387906363
561+, tdbSNP:387906364
566+a, tdbSNP:397508712
569+a, gdbSNP:397508713
574+, adbSNP:121908770
575+a, c, tdbSNP:35516286
576..577+, ctadbSNP:397508717
577+a, gdbSNP:397508718
578+g, tdbSNP:397508719
583+a, c, tdbSNP:397508720
586+a, gdbSNP:397508721
587+g, tdbSNP:397508722
590+a, gdbSNP:149197463
591..608+, aatagctatgtttagtttdbSNP:387906371
595+c, gdbSNP:397508723
598+a, gdbSNP:374689323
604+a, cdbSNP:397508724
605..606+, tdbSNP:397508726
605+c, gdbSNP:397508725
608+a, c, tdbSNP:397508727
612+a, tdbSNP:397508728
613+a, g, tdbSNP:397508729
614+a, c, gdbSNP:397508730
616+a, gdbSNP:397508731
621+a, gdbSNP:397508733
622+dbSNP:
622+a, gdbSNP:200885306
626+c, tdbSNP:397508736
626+, tdbSNP:397508737
628+a, gdbSNP:397508738
632+g, tdbSNP:397508741
641+a, gdbSNP:1800079
650..654+, ataaadbSNP:397508743
655+a, gdbSNP:397508744
658+, adbSNP:397508745
662+c, tdbSNP:397508747
663+, tdbSNP:121908771
665+a, gdbSNP:397508748
667+a, cdbSNP:367850319
670+c, gdbSNP:374163420
675..678+, tagtdbSNP:397508750
676+a, gdbSNP:1800080
679+a, cdbSNP:397508751
682+, cdbSNP:397508752
690+a, cdbSNP:397508753
693+a, cdbSNP:397508754
694+a, cdbSNP:368039301
699+a, cdbSNP:397508755
703+g, tdbSNP:141482808
706..708+, gatdbSNP:397508757
706+a, gdbSNP:397508756
707+a, gdbSNP:397508758
709+a, g, tdbSNP:397508759
712+dbSNP:
712+a, gdbSNP:376008630
713+g, tdbSNP:397508763
724+a, c, gdbSNP:193922529
725+c, tdbSNP:73215910
727+c, tdbSNP:121908802
728+a, gdbSNP:397508764
729+g, tdbSNP:397508765
730+a, tdbSNP:397508766
733+a, gdbSNP:138338446
733+, gdbSNP:397508767
738+a, gdbSNP:397508768
741+c, g, tdbSNP:1800081
744+g, tdbSNP:369247323
745+c, tdbSNP:121908803
746+c, gdbSNP:397508769
749+g, tdbSNP:121908752
750+g, tdbSNP:397508770
751+c, tdbSNP:397508771
757+g, tdbSNP:397508772
759+a, gdbSNP:397508773
772+c, tdbSNP:188457893
774..775+, tdbSNP:397508774
779+a, gdbSNP:397508775
780+g, tdbSNP:397508776
782+a, gdbSNP:121909046
785+a, tdbSNP:397508777
790+c, tdbSNP:397508778
791+a, gdbSNP:397508779
805+c, tdbSNP:397508780
807+a, tdbSNP:397508781
812+g, tdbSNP:397508782
820+c, gdbSNP:201410793
827+a, tdbSNP:397508783
841+c, gdbSNP:397508784
843+c, gdbSNP:397508785
845+c, tdbSNP:397508786
846+, tdbSNP:397508787
847+a, gdbSNP:397508788
850+c, gdbSNP:199865300
852..873+, agggagaatgatgatgaagtacdbSNP:121908804
853+a, gdbSNP:397508789
863+a, tdbSNP:397508790
870+a, gdbSNP:35033453
873+c, g, tdbSNP:1800082
875+c, gdbSNP:397508792
887+dbSNP:
887+c, tdbSNP:113744424
904+a, gdbSNP:191456345
905+, gdbSNP:397508794
905+g, tdbSNP:377514639
907+c, tcttcctcagattcattgtgattacctcadbSNP:397508795
926+g, tdbSNP:148519623
935+, adbSNP:121908772
937..938+, atdbSNP:121908773
938+c, tdbSNP:201016820
957+c, gdbSNP:193922532
960+a, cdbSNP:397508799
961+a, tdbSNP:397508800
968..970+, aagdbSNP:397508801
974+c, tdbSNP:397508802
978+a, tdbSNP:142864834
985+a, tdbSNP:151073129
989..990+, adbSNP:397508803
991..995+, aacttdbSNP:397508805
991+a, tdbSNP:397508804
992..993+, adbSNP:387906380
993..997+, cttaadbSNP:397508806
993+c, gdbSNP:112162204
1000+c, tdbSNP:397508808
1006+a, gdbSNP:397508811
1009+a, cdbSNP:397508812
1013..1014+, aadbSNP:397508813
1020+c, tdbSNP:201465561
1021+c, tdbSNP:397508814
1022+a, gdbSNP:143486492
1029+a, tdbSNP:199926595
1031+c, gdbSNP:142134579
1032+a, cdbSNP:146652541
1034+a, gdbSNP:150691494
1044+c, gdbSNP:397508816
1045+g, tdbSNP:201885470
1047+c, tdbSNP:1800083
1050+c, tdbSNP:200046355
1052+a, gdbSNP:397508817
1057+a, gdbSNP:148013312
1058+c, gdbSNP:397508818
1059+a, c, gdbSNP:1800084
1065..1067+, cttdbSNP:121908768
1065+c, gdbSNP:121909016
1071+a, gdbSNP:202168465
1072+c, gdbSNP:397508819
1073+a, g, tdbSNP:75763344
1078..1079+, tdbSNP:75528968
1078..1079+, tdbSNP:201128601
complement(1080)-c, adbSNP:78742051
1080+, tdbSNP:121908744
1090+g, tdbSNP:144476686
1091+a, tdbSNP:397508820
1092+a, tdbSNP:56093012
1096+a, gdbSNP:1800085
1103+c, tdbSNP:397508822
1104+c, gdbSNP:1799834
1106+a, gdbSNP:373998255
1112+g, tdbSNP:141115171
1112+, tdbSNP:397508823
1113+a, gdbSNP:200112521
1119+, adbSNP:397508824
1124+a, tdbSNP:397508825
1129+c, tdbSNP:193922533
1132+c, tdbSNP:121909011
1133+a, g, tdbSNP:397508137
1134+a, gdbSNP:201115310
1138..1139+, gdbSNP:397508138
1139+a, tdbSNP:397508139
1144+a, gdbSNP:397508142
1145+c, tdbSNP:77409459
1146+a, cdbSNP:202100193
1150+, adbSNP:397508143
1150+a, gdbSNP:150239014
1151..1152+, attcaccaccatdbSNP:397508140
1153+c, tdbSNP:397508144
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1186+c, tdbSNP:193922497
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1194+c, tdbSNP:199566942
1195+c, tdbSNP:144720913
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1230+a, gdbSNP:112369969
1239+c, tdbSNP:199742619
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1532+c, tdbSNP:139573311
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1586+c, gdbSNP:143980575
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1607+c, tdbSNP:121909017
1609..1610+, cadbSNP:121908775
1609+c, tdbSNP:77101217
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1626+c, gdbSNP:397508218
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1652..1654+, tctdbSNP:199826652
1653..1655+, cttdbSNP:113993960
1654..1656+, tttdbSNP:121909001
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1756+g, tdbSNP:113993959
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1819+a, g, tdbSNP:121909006
1822+a, gdbSNP:371291116
1823+a, gdbSNP:375325315
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1828+a, gdbSNP:397508271
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1885+g, tdbSNP:397508296
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1923+c, tdbSNP:186147668
1924..1930+, aaaactadbSNP:397508303
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1929+a, tdbSNP:397508304
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1946+c, tdbSNP:386612368
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1972+g, tdbSNP:397508312
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1985+c, tdbSNP:139468767
1988+c, tdbSNP:397508313
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2032+c, tdbSNP:397508319
2039+c, tdbSNP:374702882
2041+c, tdbSNP:397508320
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2043+, c, gdbSNP:121908778
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2098+g, tdbSNP:397508323
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2257+c, tdbSNP:121908760
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2422+c, tdbSNP:121908810
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2505+a, gdbSNP:202115503
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2507+a, gdbSNP:369040061
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2531+c, gdbSNP:397508373
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2549+a, gdbSNP:397508375
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2620+a, tdbSNP:397508382
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2624+a, gdbSNP:373264826
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2694+g, tdbSNP:1042077
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2734+, gdbSNP:397508406
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2747+a, cdbSNP:145714303
2751+a, gdbSNP:397508409
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2893+a, gdbSNP:199564652
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2900+a, cdbSNP:193922509
2901+c, tdbSNP:1800108
2902+a, gdbSNP:201759207
2906+c, tdbSNP:376827439
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2909+, tdbSNP:397508434
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2931+a, tdbSNP:397508437
2937+a, gdbSNP:368967922
2940+a, gdbSNP:397508438
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2945+g, tdbSNP:193922511
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2948+a, gdbSNP:397508440
2952+g, tdbSNP:60887846
2957+, tdbSNP:397508441
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2964+a, gdbSNP:193922512
2966+c, tdbSNP:397508442
2967+a, gdbSNP:193922513
2968+a, tdbSNP:397508443
2977+c, tdbSNP:121909035
2978+a, g, tdbSNP:397508444
2983+a, gdbSNP:181137679
2987+c, tdbSNP:142773283
2988+c, gdbSNP:151048781
2991..3022+, acattctgttcttcaagcacctatgtcaacccdbSNP:397508445
2993+a, cdbSNP:397508446
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3010+c, tdbSNP:185397588
3015+g, tdbSNP:397508450
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3032+c, tdbSNP:1800110
3039+a, gdbSNP:377502207
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3061+c, g, tdbSNP:137975784
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3105+a, gdbSNP:370181570
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3130..3151+, attgtgattggagctatagcagdbSNP:397508474
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3173..3174+, acdbSNP:397508487
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3179+c, tdbSNP:397508488
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3196+a, gdbSNP:144441835
3200..3204+, tagtgdbSNP:397508493
3204..3205+, cactatdbSNP:201667497
3204..3205+, cactatdbSNP:386626615
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3214+a, gdbSNP:200512336
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3216+g, tdbSNP:200553511
3226+a, tdbSNP:397508495
3227+a, gdbSNP:144055758
3235+c, tdbSNP:397508496
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3263+a, gdbSNP:397508501
3271+c, gdbSNP:397508504
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3286+g, tdbSNP:150212784
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3301+a, gdbSNP:397508511
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3309+a, gdbSNP:1800113
3311+a, cdbSNP:397508513
3312+a, gdbSNP:142526976
3313+c, gdbSNP:142394380
3320..3321+, ctatgdbSNP:387906366
3321+a, gdbSNP:397508514
3325+c, tdbSNP:397508515
3326+c, g, tdbSNP:121909036
3328+a, c, tdbSNP:78194216
3329+a, g, tdbSNP:121909019
3331+a, c, gdbSNP:121909020
3332+a, c, g, tdbSNP:1800114
3333+c, tdbSNP:1800115
3336+c, tdbSNP:1800116
3337+a, gdbSNP:200321110
3340+c, tdbSNP:202179988
3341+a, c, gdbSNP:78769542
3343+c, tdbSNP:397508517
3344+a, cdbSNP:121909037
3354+a, tdbSNP:186045772
3361..3362+, ctdbSNP:397508518
3362+c, tdbSNP:139304906
3368+a, cdbSNP:397508519
3373+c, gdbSNP:397508521
3384+a, gdbSNP:1800117
3386+a, gdbSNP:79635528
3388+a, tdbSNP:373043500
3389+c, tdbSNP:77958296
3394+a, gdbSNP:397508523
3395..3396+, adbSNP:397508524
3396+, cdbSNP:397508525
3398+a, gdbSNP:78802634
3399+c, gdbSNP:150020260
3406+c, tdbSNP:376968326
3408+a, c, gdbSNP:121908761
3410+c, tdbSNP:397508527
3417+a, tdbSNP:1800118
3419+, tdbSNP:397508529
3421+c, tdbSNP:201591901
3424+c, tdbSNP:397508531
3425+a, gdbSNP:397508532
3426+c, gdbSNP:397508533
3426+, gdbSNP:397508534
3431+a, cdbSNP:397508535
3434+a, g, tdbSNP:36210737
3436+a, tdbSNP:397508536
3437+a, gdbSNP:35813506
3442+g, tdbSNP:397508538
3446+g, tdbSNP:397508539
3447+, gdbSNP:397508540
3454+c, gdbSNP:397508542
3465+c, tdbSNP:144135742
3471+c, tdbSNP:1800119
3485+c, g, tdbSNP:146521846
3496+, adbSNP:397508543
3499+c, gdbSNP:397508546
3503..3505+dbSNP:
3503..3505+, aagdbSNP:397508548
3514+a, tdbSNP:397508549
3521+c, gdbSNP:397508550
3532..3533+ac, gtadbSNP:397508552
3541+a, gdbSNP:397508553
3542+g, tdbSNP:397508555
3543+c, gdbSNP:141150961
3547+a, gdbSNP:397508556
3550..3552+, atgdbSNP:397508557
3551+a, tdbSNP:397508558
3556..3557+, agtadbSNP:397508559
3561+a, gdbSNP:375845215
3562+c, tdbSNP:397508560
3567+a, gdbSNP:397508561
3571+a, gdbSNP:397508562
3573+a, gdbSNP:375687401
3575+a, gdbSNP:397508564
3576+a, cdbSNP:397508565
3577+c, tdbSNP:374202054
3577+, tdbSNP:397508566
3586+c, gdbSNP:75541969
3589+a, gdbSNP:143120209
3590+a, tdbSNP:397508567
3592+g, tdbSNP:397508568
3593+a, gdbSNP:397508569
3600+a, g, tdbSNP:139729994
complement(3604)-dbSNP:
complement(3604)-t, g, c, adbSNP:79850223
3607+c, tdbSNP:397508572
3608+c, tdbSNP:397508573
3613+a, cdbSNP:397508574
3617..3618+, gadbSNP:397508575
3617+a, g, tdbSNP:1800120
3622..3623+, tdbSNP:397508576
3624..3625+, tdbSNP:387906379
3629+g, tdbSNP:397508577
3635+a, gdbSNP:150326506
3649+a, gdbSNP:368393738
3653+a, cdbSNP:137875514
3659..3660+, cdbSNP:78984783
3660+, cdbSNP:121908747
3661+a, tdbSNP:397508578
3662+, adbSNP:397508579
3667..3670+, accadbSNP:121908782
3667..3668+, tcaadbSNP:387906378
3672+, adbSNP:397508580
3678+c, gdbSNP:397508581
3688+c, tdbSNP:397508582
3690+a, gdbSNP:1800121
3696+a, gdbSNP:146804928
3716+a, cdbSNP:397508584
3719+c, gdbSNP:121908763
3724+, gdbSNP:397508585
3726+g, tdbSNP:1800122
3732+a, gdbSNP:397508586
3737+, adbSNP:397508587
3739+a, gdbSNP:75647395
3739+a, gdbSNP:386626617
3743+a, gdbSNP:121908764
3744+a, gdbSNP:121908765
3749+a, c, gdbSNP:397508588
3750..3751+, agdbSNP:397508589
3755+, gdbSNP:35396083
3760+a, gdbSNP:151264397
3761+a, tdbSNP:397508590
3766+a, gdbSNP:397508591
3791+, cdbSNP:121908811
3791+c, tdbSNP:1800123
3804+a, tdbSNP:371475225
3812+c, tdbSNP:397508593
3819+a, cdbSNP:139322772
3821..3822+, tdbSNP:77035409
3821..3822+, tdbSNP:201381102
3823+, tdbSNP:121908783
complement(3832)-t, g, c, adbSNP:75389940
3837+g, tdbSNP:34911792
3844+c, tdbSNP:121908766
3845+a, gdbSNP:397508594
3849+a, gdbSNP:144781064
3851+dbSNP:
3851+g, tdbSNP:397508598
3855+a, c, tdbSNP:185065886
3862+a, gdbSNP:397508599
3863+a, g, tdbSNP:267606723
3867+a, gdbSNP:1800128
3869+c, tdbSNP:397508600
3871+c, gdbSNP:397508601
3875+c, tdbSNP:148122007
3876..3877+, tdbSNP:200515722
3876+, a, tdbSNP:121908784
3877+a, gdbSNP:397508602
3878+a, gdbSNP:121909040
3884+a, gdbSNP:74503330
3885+c, tdbSNP:200837037
3886+a, cdbSNP:397508603
3889+c, tdbSNP:201382911
3891+a, c, gdbSNP:117400534
3893+g, tdbSNP:397508604
3895+c, tdbSNP:121909041
3896+a, c, tdbSNP:76649725
3897+a, gdbSNP:200174447
3898..3899+, cdbSNP:397508605
3899..3900+, cdbSNP:387906370
3901+c, tdbSNP:200926076
3903+g, tdbSNP:397508607
3904+c, tdbSNP:202074317
3905..3906+, a, tdbSNP:121908789
3906..3907+, gdbSNP:397508608
3912..3914+, actdbSNP:397508610
3912+a, gdbSNP:112339787
3921+c, tdbSNP:200921635
3939+c, g, tdbSNP:1800129
3940+a, g, tdbSNP:11971167
3948..3949+, gtdbSNP:397508612
3954+a, gdbSNP:397508613
3961+, adbSNP:397508614
3973+c, tdbSNP:397508615
3976+c, g, tdbSNP:397508616
3978+a, gdbSNP:77010898
complement(3980)-t, g, c, adbSNP:77902683
3986+c, tdbSNP:397508617
3987+, cdbSNP:397508618
3989+c, tdbSNP:121909028
4000+c, tdbSNP:397508619
4002+a, gdbSNP:1800130
4003+c, tdbSNP:397508620
4004+a, gdbSNP:397508621
4005+c, gdbSNP:121909015
4008+dbSNP:
4008+, adbSNP:397508626
4010..4013+, tattdbSNP:387906373
4014..4017+, tattdbSNP:397508628
4015..4018+, atttdbSNP:397508629
4015+, adbSNP:397508630
4016..4017+, tdbSNP:121908808
4021..4022+, tdbSNP:397508631
4022..4023+, tdbSNP:397508633
4025+c, gdbSNP:193922522
4028+c, tdbSNP:397508634
4029+a, gdbSNP:1800131
4039+a, cdbSNP:121909042
4040..4041+, adbSNP:397508638
4040+, adbSNP:397508637
4040+a, tdbSNP:397508636
4041..4046+cttgga, tgtdbSNP:397508639
4047+a, tdbSNP:397508640
4048+c, tdbSNP:201503139
4050+c, tdbSNP:1800132
4052+a, gdbSNP:397508641
4053+a, tdbSNP:397508642
4054+g, tdbSNP:397508643
4057+c, tdbSNP:193922732
4059+g, tdbSNP:397508644
4061+a, gdbSNP:397508645
4067+a, gdbSNP:397508646
4069+a, c, tdbSNP:121909026
4079+a, gdbSNP:121909010
4085+c, tdbSNP:397508648
4086+c, tdbSNP:1800133
4088+a, cdbSNP:397508649
4089..4090+, agggdbSNP:193922523
4103+dbSNP:
4103+c, tdbSNP:397508653
4108+, tdbSNP:397508654
4114..4116+ata, ttdbSNP:397508655
4115+c, tdbSNP:115762793
4117+c, gdbSNP:397508656
4120+c, gdbSNP:375661578
4129+g, tdbSNP:193922524
4135+c, tdbSNP:145545286
4136+c, tdbSNP:397508658
4141+g, tdbSNP:397508659
4147+c, tdbSNP:397508660
4160..4161+, ggggdbSNP:397508661
4163+c, gdbSNP:368427311
4168..4174+, ctaagccdbSNP:397508662
4171..4172+, adbSNP:397508663
4172..4173+, gcdbSNP:397508664
4174+, cdbSNP:397508665
4177+a, gdbSNP:201686600
4178+a, gdbSNP:193922525
4183+a, gdbSNP:397508666
4188+c, g, tdbSNP:113857788
4191+c, gdbSNP:374276008
4203..4205+aa, tagdbSNP:397508667
4209..4212+aa, tgttdbSNP:397508668
4218..4219+, tdbSNP:397508669
4223+c, tdbSNP:397508670
4224+a, gdbSNP:148878126
4229+c, tdbSNP:200955612
4243+g, tdbSNP:397508675
4246+a, cdbSNP:397508676
4247+c, tdbSNP:397508677
4253+c, gdbSNP:115147093
4255+a, cdbSNP:146947665
4256+a, cdbSNP:397508678
4261+c, gdbSNP:150683293
4271+dbSNP:
4271+, cdbSNP:397508680
4272+, adbSNP:397508681
4273+c, tdbSNP:397508682
4275+a, cdbSNP:397508683
4276+c, tdbSNP:397508684
4279..4280+, adbSNP:397508685
4295+a, tdbSNP:397508688
4300+c, tdbSNP:397508689
4302+, adbSNP:397508690
4318+a, cdbSNP:375552160
4322+a, tdbSNP:397508691
4325+g, tdbSNP:397508692
4328..4329+, tcdbSNP:397508693
4329+c, g, tdbSNP:79688066
4332..4333+, tgdbSNP:397508695
4333+a, g, tdbSNP:397508696
4334+a, c, gdbSNP:397508697
4338+c, tdbSNP:368044495
4356+a, gdbSNP:1800134
4357+a, gdbSNP:397508699
4363+c, tdbSNP:397508701
4364+a, cdbSNP:150177304
4366+c, tdbSNP:397508702
4369+c, tdbSNP:142092183
4373+c, tdbSNP:397508703
4383+, adbSNP:397508706
4384+g, tdbSNP:397508707
4396+c, tdbSNP:373172017
4404+c, tdbSNP:1800135
4408+c, tdbSNP:397508708
4412+c, tdbSNP:193922528
4428..4429+, gadbSNP:397508709
4444+c, tdbSNP:397508711
4465+a, gdbSNP:148783445
4489+c, tdbSNP:4148725
4490+a, gdbSNP:141554123
4496+c, gdbSNP:121909043
4521+a, gdbSNP:1800136
4528+g, tdbSNP:199827645
4549+g, tdbSNP:397508716
4555+g, tdbSNP:369464175
4558+c, tdbSNP:374705585
4577+a, gdbSNP:150914702
4588+a, gdbSNP:373479656
4592+c, tdbSNP:376476454
4608+c, tdbSNP:370433011
4623+c, tdbSNP:113068756
4626+a, gdbSNP:372463411
4648+c, tdbSNP:142602860
4655+g, tdbSNP:397508135
4656+c, tdbSNP:139492880
4669+c, tdbSNP:144214399
4699..4700+, cdbSNP:145697705
4699+a, gdbSNP:368444938
4700+g, tdbSNP:201842480
4700+, tdbSNP:67380110
4707+a, tdbSNP:146567608
4708+a, tdbSNP:4148726
4708+, tdbSNP:372350028
4708+, tdbSNP:386411101
4719+c, tdbSNP:149810643
4857+c, gdbSNP:375677859
4873+a, tdbSNP:151066046
4900+a, gdbSNP:17140308
4930+c, tdbSNP:73716217
5008+a, tdbSNP:367622983
5017+c, tdbSNP:180783619
5026+a, tdbSNP:185819383
5049+c, gdbSNP:192385679
5057+c, tdbSNP:147862180
5203+c, tdbSNP:61481156
5259+a, gdbSNP:146818281
5456+c, tdbSNP:371815480
5607..5608+, gadbSNP:139314714
5618+a, cdbSNP:10234329
5662+c, tdbSNP:149773701
5732+a, tdbSNP:1042166
5761+c, tdbSNP:183653587
5824+c, tdbSNP:150494700
5826+a, gdbSNP:386512878
5826+c, tdbSNP:1042180
5869+a, gdbSNP:55831234
5897+c, gdbSNP:190470955
5967+c, gdbSNP:143911642
5973+c, tdbSNP:3181644
6067+a, gdbSNP:374134325
6131+a, cdbSNP:34255446
Gene SymbolCFTR
Gene SynonymABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Chromosome7
Locus Map7q31.2
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000492 Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. On-demand $1699.00 25
XM_006715842 PREDICTED: Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), transcript variant X1, mRNA. On-demand $2699.00 30
Title CFTR genotype and clinical outcomes of adult patients carried as cystic fibrosis disease .
Author Bonadia LC, de Lima Marson FA, Ribeiro JD, Paschoal IA, Pereira MC, Ribeiro AF and Bertuzzo CS.
Journal Gene 540 (2), 183-190 (2014)
Title Cystic fibrosis and bone disease: defective osteoblast maturation with the F508del mutation in cystic fibrosis transmembrane conductance regulator .
Author Velard F, Delion M, Le Henaff C, Guillaume C, Gangloff S, Jacquot J, Tabary O, Touqui L, Barthes F and Sermet-Gaudelus I.
Journal Am. J. Respir. Crit. Care Med. 189 (6), 746-748 (2014)
Title Cigarette smoke-induced Ca2+ release leads to cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction .
Author Rasmussen JE, Sheridan JT, Polk W, Davies CM and Tarran R.
Journal J. Biol. Chem. 289 (11), 7671-7681 (2014)
Title Frequency of common CFTR gene mutations in Venezuelan patients with cystic fibrosis .
Author Sanchez,K., Arcia,O., Matute,X., Mindiola,L., Chaustre,I. and Takiff,H.
Journal Invest Clin 55 (1), 44-54 (2014)
Title Pancreatitis Overview .
Author LaRusch,J., Solomon,S. and Whitcomb,D.C.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title CFTR-Related Disorders .
Author Moskowitz,S.M., Chmiel,J.F., Sternen,D.L., Cheng,E. and Cutting,G.R.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title A serine to proline substitution (S1255P) in the second nucleotide binding fold of the cystic fibrosis gene .
Author Lissens W, Bonduelle M, Malfroot A, Dab I and Liebaers I.
Journal Hum. Mol. Genet. 1 (6), 441-442 (1992)
Title Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP .
Author Shackleton S, Beards F and Harris A.
Journal Hum. Mol. Genet. 1 (6), 439-440 (1992)
Title A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene .
Author Cheadle JP, Meredith AL and al-Jader LN.
Journal Hum. Mol. Genet. 1 (2), 123-125 (1992)
Title Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation .
Author Jones CT, McIntosh I, Keston M, Ferguson A and Brock DJ.
Journal Hum. Mol. Genet. 1 (1), 11-17 (1992)

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