• THAT   AND
  • THAT   AND


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 14-APR-2013
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..1044
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
125+c, gdbSNP:1800501
146+c, tdbSNP:193922501
151+g, tdbSNP:121909045
156+a, gdbSNP:1800071
163+a, gdbSNP:1800072
204+a, gdbSNP:55773134
223+c, tdbSNP:1800073
224+a, gdbSNP:149353983
246+c, gdbSNP:193922498
257+c, tdbSNP:143456784
263+a, tdbSNP:1800074
269+c, tdbSNP:151020603
279+a, gdbSNP:140444668
302+dbSNP:
302+a, gdbSNP:147822203
303+a, gdbSNP:121909025
310+a, cdbSNP:77284892
345+c, tdbSNP:1800075
352+c, tdbSNP:115545701
353+a, gdbSNP:142540482
355+c, tdbSNP:121908749
356+a, gdbSNP:1800076
386+a, gdbSNP:75961395
391+, aadbSNP:77720889
394..395+, aadbSNP:202148006
394..395+, ttdbSNP:121908769
396+a, cdbSNP:149662778
403+a, gdbSNP:121908750
406+a, g, tdbSNP:121908751
445+, adbSNP:121908801
457..459+g, tatdbSNP:121908798
458+a, gdbSNP:121909031
460+c, g, tdbSNP:113993958
464+c, tdbSNP:140502196
476+a, tdbSNP:149706251
481+c, tdbSNP:77834169
482+a, gdbSNP:78655421
485..486+, cdbSNP:35871908
487+a, gdbSNP:193922518
490+a, gdbSNP:201958172
492+a, gdbSNP:1800077
498+a, tdbSNP:79660178
502+c, gdbSNP:193922519
506+c, tdbSNP:141723617
514..515+, tatdbSNP:193922521
545+c, tdbSNP:1800078
548+a, tdbSNP:76371115
550+c, tdbSNP:145900055
574+, adbSNP:121908770
575+c, tdbSNP:35516286
590+a, gdbSNP:149197463
622+dbSNP:
622+a, gdbSNP:200885306
641+a, gdbSNP:1800079
663+, tdbSNP:121908771
664+c, tdbSNP:80282562
676+a, gdbSNP:1800080
703+g, tdbSNP:141482808
724+dbSNP:
724+a, gdbSNP:193922529
725+c, tdbSNP:73215910
727+c, tdbSNP:121908802
733+a, gdbSNP:138338446
741+c, tdbSNP:1800081
745+c, tdbSNP:121908803
749+g, tdbSNP:121908752
772+c, tdbSNP:188457893
782+a, gdbSNP:121909046
820+c, gdbSNP:201410793
847+a, gdbSNP:147432698
850+c, gdbSNP:199865300
852..873+, agggagaatgatgatgaagtacdbSNP:121908804
870+a, gdbSNP:35033453
873+c, tdbSNP:1800082
887+dbSNP:
887+c, tdbSNP:113744424
904+a, gdbSNP:191456345
926+g, tdbSNP:148519623
935+, adbSNP:121908772
937..938+, atdbSNP:121908773
938+c, tdbSNP:201016820
957+c, gdbSNP:193922532
978+a, tdbSNP:142864834
985+a, tdbSNP:151073129
993+c, gdbSNP:112162204
1020+c, tdbSNP:201465561
1022+a, gdbSNP:143486492
1029+a, tdbSNP:199926595
1031+c, gdbSNP:142134579
1032+a, cdbSNP:146652541
1034+a, gdbSNP:150691494
1045+g, tdbSNP:201885470
1047+c, tdbSNP:1800083
1050+c, tdbSNP:200046355
1057+a, gdbSNP:148013312
1059+a, c, gdbSNP:1800084
1065..1067+, cttdbSNP:121908768
1065+c, gdbSNP:121909016
1071+a, gdbSNP:202168465
1073+a, gdbSNP:75763344
1078..1079+, tdbSNP:201128601
1078+, tdbSNP:75528968
1080+a, cdbSNP:78742051
1080+, tdbSNP:121908744
1090+g, tdbSNP:144476686
1092+a, tdbSNP:56093012
1096+a, gdbSNP:1800085
1104+c, gdbSNP:1799834
1112+g, tdbSNP:141115171
1113+a, gdbSNP:200112521
1120+g, tdbSNP:79031340
1129+c, tdbSNP:193922533
1132+c, tdbSNP:121909011
1134+a, gdbSNP:201115310
1145+c, tdbSNP:77409459
1146+a, cdbSNP:202100193
1150+a, gdbSNP:150239014
1155+a, gdbSNP:200268636
1161+, cdbSNP:121908774
1164+c, tdbSNP:201387280
1167+c, tdbSNP:202116910
1172+a, c, g, tdbSNP:77932196
1175+a, tdbSNP:142920240
1178+c, tdbSNP:121909021
1179+a, gdbSNP:200520623
1184+c, g, tdbSNP:1800086
1186+c, tdbSNP:193922497
1187+a, gdbSNP:121908753
1191+a, cdbSNP:1800087
1194+c, tdbSNP:199566942
1195+c, tdbSNP:144720913
1206+a, gdbSNP:200708728
complement(1207)-t, gdbSNP:76879328
1211+a, c, tdbSNP:75053309
1212+a, gdbSNP:201246833
1222+c, tdbSNP:78909279
1226+c, tdbSNP:76727851
1230+a, gdbSNP:112369969
1239+c, tdbSNP:199742619
1244+c, tdbSNP:140026105
1257+dbSNP:
1257+a, cdbSNP:73215912
1285..1286+, atdbSNP:121908785
1295+c, tdbSNP:143860237
1296+g, tdbSNP:1800088
1328+c, tdbSNP:146463120
1342+dbSNP:
1342+c, gdbSNP:200899224
1366..1370+, gcaaadbSNP:3034796
1383+a, cdbSNP:4727853
1386+c, tdbSNP:62469440
1397+c, tdbSNP:201880593
1410+c, tdbSNP:2896225
1431+a, cdbSNP:11531593
1435+c, gdbSNP:112695925
1444+a, gdbSNP:201434579
1444+c, tdbSNP:74935724
1459+g, tdbSNP:147422190
1461+g, tdbSNP:148056476
1496+g, tdbSNP:74551128
1497+a, g, tdbSNP:79074685
1499+c, tdbSNP:193922500
1505+g, tdbSNP:121909009
1529+dbSNP:
1529+a, c, gdbSNP:121908805
1531+c, tdbSNP:1800089
1532+c, tdbSNP:139573311
1539+g, tdbSNP:143218779
1540+a, gdbSNP:213950
1561+c, tdbSNP:139054556
1570+g, tdbSNP:79282516
1572+c, tdbSNP:1800090
1585+a, tdbSNP:138427145
1586+c, gdbSNP:143980575
1607+c, tdbSNP:121909017
1609..1610+, cadbSNP:121908775
1609+c, tdbSNP:77101217
1620+c, gdbSNP:200626971
1648+a, gdbSNP:1800091
1650+a, c, gdbSNP:1800092
1651..1653+, atcdbSNP:121908745
1651+a, gdbSNP:1801178
1652..1654+, tctdbSNP:199826652
1653..1655+, cttdbSNP:113993960
1653+g, tdbSNP:1800093
1654..1656+, tttdbSNP:121909001
1655+g, tdbSNP:74571530
1677..1678+, tadbSNP:121908776
1690+a, g, tdbSNP:77646904
1695+c, gdbSNP:140552874
1704+a, cdbSNP:121908754
1713+a, gdbSNP:1800094
1716+a, gdbSNP:1800095
1726+dbSNP:
1726+a, gdbSNP:35032490
1738+a, gdbSNP:148173473
1748+c, tdbSNP:144745159
1750+a, gdbSNP:187318937
1756+g, tdbSNP:113993959
1764+g, tdbSNP:138752638
1773+a, tdbSNP:1800096
1777+a, cdbSNP:121908757
1778+a, g, tdbSNP:121908755
1779+g, tdbSNP:121909005
1783+a, gdbSNP:121909013
1784+a, gdbSNP:75527207
1786+c, tdbSNP:76554633
1789+c, tdbSNP:74597325
1790+a, gdbSNP:121909044
1793+a, cdbSNP:121909022
1798+a, gdbSNP:75789129
1805+c, tdbSNP:193922504
1807+a, gdbSNP:75549581
1811+a, c, gdbSNP:80055610
1814+dbSNP:
1814+a, cdbSNP:121909047
1816+a, c, gdbSNP:1800097
1819+a, tdbSNP:121909006
1824+, adbSNP:193922505
1850+c, tdbSNP:139176426
1853+a, cdbSNP:121908758
1859+c, gdbSNP:1800098
1863+c, tdbSNP:55928397
1866+a, gdbSNP:201025424
1867..1868+, cdbSNP:34347530
1919+a, cdbSNP:139027193
1923+c, tdbSNP:186147668
1939+a, gdbSNP:143036685
1946+a, gdbSNP:766874
1948+dbSNP:79948919
1949..2032+dbSNP:121908777
1949..2032+dbSNP:201572956
1969+a, gdbSNP:201978662
1973+a, gdbSNP:201124247
1985+c, tdbSNP:139468767
1997+a, gdbSNP:121908759
2042..2043+, cdbSNP:74461331
2043..2044+, cdbSNP:201289677
2043+, gdbSNP:121908778
2052+c, tdbSNP:145877746
2055..2063+a, ctcaaaactdbSNP:121908779
2075+a, tdbSNP:121909033
2082+a, c, tdbSNP:200204024
2092+a, gdbSNP:1800099
2105..2117+agaaa, gaaattcaatcctdbSNP:121908780
2108+, adbSNP:121908809
2134+c, tdbSNP:1800100
2135+a, gdbSNP:199623561
2144+, tdbSNP:121908812
2174+a, tdbSNP:201295415
2178..2180+, aadbSNP:79309855
2180+a, gdbSNP:181878120
2183..2184+, aadbSNP:200902979
2183..2184+aa, gdbSNP:121908799
2184..2185+, adbSNP:121908786
2184+, adbSNP:121908746
2184+a, gdbSNP:79471689
2189+a, cdbSNP:201444561
2209+c, tdbSNP:1800101
2211+g, tdbSNP:145540754
2238+c, gdbSNP:1800102
2257+c, tdbSNP:121908760
2258+, gdbSNP:35722447
2260+a, tdbSNP:75115087
2277+a, cdbSNP:141235765
2278+a, tdbSNP:121909023
2285+c, gdbSNP:142432539
2300+g, tdbSNP:200531709
2305+a, gdbSNP:199791061
2306+, adbSNP:80126849
2307..2308+, adbSNP:121908787
2307..2308+, adbSNP:200007348
2342+c, tdbSNP:186089140
2351+c, tdbSNP:150772285
2373+a, gdbSNP:146645194
2377+c, tdbSNP:151235408
2381+c, tdbSNP:140455771
2391+c, tdbSNP:201888075
2392+a, gdbSNP:150157202
2412+a, gdbSNP:138634146
2414+c, tdbSNP:77083601
2422+c, tdbSNP:121908810
2486+a, gdbSNP:141880790
2505+a, gdbSNP:202115503
2506+c, gdbSNP:145449046
2524+c, tdbSNP:138069616
2553+a, gdbSNP:1800103
2556+c, tdbSNP:143954792
2582+g, tdbSNP:148604667
2611+g, tdbSNP:121909018
2634+dbSNP:
2634+g, tdbSNP:200735475
2638+g, tdbSNP:201386642
2670+a, gdbSNP:267606722
2683+c, tdbSNP:121909012
2691+c, tdbSNP:1800104
2694+g, tdbSNP:1042077
2729+a, gdbSNP:193922506
2736+a, gdbSNP:1800105
2747+a, cdbSNP:145714303
2783+dbSNP:
2783+a, tdbSNP:141508280
2797+dbSNP:
2797+c, tdbSNP:61738523
2800+c, tdbSNP:79633941
2816+a, gdbSNP:201864483
2839+c, tdbSNP:1800106
2840+a, gdbSNP:147297080
2858+g, tdbSNP:1800107
2867+c, tdbSNP:121909034
2868+a, gdbSNP:200901072
2869..2870+, gdbSNP:121908788
2870+a, gdbSNP:121909008
2871+a, tdbSNP:149790377
2893+a, gdbSNP:199564652
2894+a, gdbSNP:193922508
2900+a, cdbSNP:193922509
2901+c, tdbSNP:1800108
2902+a, gdbSNP:201759207
2942..2943+, tdbSNP:193922510
2945+g, tdbSNP:193922511
2951+c, tdbSNP:145768122
2952+g, tdbSNP:60887846
2963+c, tdbSNP:141747560
2964+a, gdbSNP:193922512
2967+a, gdbSNP:193922513
2977+c, tdbSNP:121909035
2983+a, gdbSNP:181137679
2987+c, tdbSNP:142773283
2988+c, gdbSNP:151048781
3010+c, tdbSNP:185397588
3030+a, gdbSNP:1800109
3032+c, tdbSNP:1800110
3061+dbSNP:
3061+g, tdbSNP:137975784
3062+c, tdbSNP:141033578
3064+a, tdbSNP:193922514
3101+c, gdbSNP:201761547
3120+a, gdbSNP:121908797
3123+dbSNP:
3123+c, gdbSNP:1800111
3133+a, gdbSNP:193922731
3140+a, gdbSNP:55803548
3157+a, gdbSNP:184724618
3170+a, cdbSNP:193922516
3171+, cdbSNP:121908781
3173+a, gdbSNP:149279509
3187+a, gdbSNP:61729420
3196+a, gdbSNP:144441835
3198..3204+, cactatdbSNP:76534549
3199..3204+, atagtgdbSNP:121908767
3199..3204+, cactatdbSNP:201667497
3211+a, tdbSNP:79539988
3212+c, tdbSNP:1800112
3214+a, gdbSNP:200512336
3216+g, tdbSNP:200553511
3227+a, gdbSNP:144055758
3286+dbSNP:
3286+g, tdbSNP:150212784
3290+c, tdbSNP:140883683
3294+a, tdbSNP:199990040
3309+a, gdbSNP:1800113
3312+a, gdbSNP:142526976
3313+c, gdbSNP:142394380
3326+c, tdbSNP:121909036
3328+c, tdbSNP:78194216
3329+a, gdbSNP:121909019
3331+a, gdbSNP:121909020
3332+c, tdbSNP:1800114
3333+c, tdbSNP:1800115
3336+c, tdbSNP:1800116
3337+a, gdbSNP:200321110
3340+c, tdbSNP:202179988
3341+a, gdbSNP:78769542
3344+a, cdbSNP:121909037
3354+a, tdbSNP:186045772
3362+c, tdbSNP:139304906
3384+a, gdbSNP:1800117
3386+a, gdbSNP:79635528
3389+c, tdbSNP:77958296
3398+a, gdbSNP:78802634
3399+c, gdbSNP:150020260
3408+a, c, gdbSNP:121908761
3417+a, tdbSNP:1800118
3421+c, tdbSNP:201591901
3434+a, g, tdbSNP:36210737
3437+a, gdbSNP:35813506
3465+c, tdbSNP:144135742
3471+c, tdbSNP:1800119
3485+c, tdbSNP:146521846
3543+dbSNP:
3543+c, gdbSNP:141150961
3586+c, gdbSNP:75541969
3589+a, gdbSNP:143120209
3600+g, tdbSNP:139729994
3604+dbSNP:
3604+c, tdbSNP:79850223
3616+a, gdbSNP:74767530
3617+a, g, tdbSNP:1800120
3635+a, gdbSNP:150326506
3653+a, cdbSNP:137875514
3659..3660+, cdbSNP:78984783
3660+, cdbSNP:121908747
3667..3670+, accadbSNP:121908782
3690+a, gdbSNP:1800121
3696+a, gdbSNP:146804928
3719+c, gdbSNP:121908763
3726+g, tdbSNP:1800122
3739+a, gdbSNP:75647395
3743+a, gdbSNP:121908764
3744+a, gdbSNP:121908765
3751+, gdbSNP:35396083
3760+a, gdbSNP:151264397
3791+, cdbSNP:121908811
3791+c, tdbSNP:1800123
3819+a, cdbSNP:139322772
3821..3822+, tdbSNP:201381102
3821+, tdbSNP:77035409
3823+, tdbSNP:121908783
3832+a, gdbSNP:75389940
3837+g, tdbSNP:34911792
3844+c, tdbSNP:121908766
3849+a, gdbSNP:144781064
3855+dbSNP:
3855+a, c, tdbSNP:185065886
3863+g, tdbSNP:267606723
3867+a, gdbSNP:1800128
3875..3876+, tdbSNP:77802063
3875+c, tdbSNP:148122007
3876..3877+, tdbSNP:200515722
3876+, adbSNP:121908784
3878+a, gdbSNP:121909040
3884+a, gdbSNP:74503330
3885+c, tdbSNP:200837037
3889+c, tdbSNP:201382911
3891+a, gdbSNP:117400534
3895+c, tdbSNP:121909041
3896+a, c, tdbSNP:76649725
3897+a, gdbSNP:200174447
3900+, adbSNP:74976714
3901+c, tdbSNP:200926076
3904+c, tdbSNP:202074317
3905..3906+, tdbSNP:121908789
3912+a, gdbSNP:112339787
3921+c, tdbSNP:200921635
3939+c, tdbSNP:1800129
3940+a, gdbSNP:11971167
3978+a, gdbSNP:77010898
3980+g, tdbSNP:77902683
3989+c, tdbSNP:121909028
4002+a, gdbSNP:1800130
4005+c, gdbSNP:121909015
4016..4017+dbSNP:
4016..4017+, tdbSNP:121908808
4025+c, gdbSNP:193922522
4029+a, gdbSNP:1800131
4039+a, cdbSNP:121909042
4041+c, gdbSNP:80034486
4048+c, tdbSNP:201503139
4050+c, tdbSNP:1800132
4057+c, tdbSNP:193922732
4069+a, c, tdbSNP:121909026
4079+a, gdbSNP:121909010
4086+c, tdbSNP:1800133
4089..4090+, agggdbSNP:193922523
4115+dbSNP:
4115+c, tdbSNP:115762793
4129+g, tdbSNP:193922524
4135+c, tdbSNP:145545286
4177+a, gdbSNP:201686600
4178+a, gdbSNP:193922525
4188+c, g, tdbSNP:113857788
4224+a, gdbSNP:148878126
4229+c, tdbSNP:200955612
4253+c, gdbSNP:115147093
4255+a, cdbSNP:146947665
4261+c, gdbSNP:150683293
4329+dbSNP:
4329+c, g, tdbSNP:79688066
4356+a, gdbSNP:1800134
4364+a, cdbSNP:150177304
4369+c, tdbSNP:142092183
4404+c, tdbSNP:1800135
4412+c, tdbSNP:193922528
4465+a, gdbSNP:148783445
4489+c, tdbSNP:4148725
4490+a, gdbSNP:141554123
4496+c, gdbSNP:121909043
4521+a, gdbSNP:1800136
4528+g, tdbSNP:199827645
4577+a, gdbSNP:150914702
4623+c, tdbSNP:113068756
4648+c, tdbSNP:142602860
4656+c, tdbSNP:139492880
4660+, gacagtcacctcatggaattggagctcgtggdbSNP:72393866
4669+c, tdbSNP:144214399
4699..4700+, cdbSNP:145697705
4700+g, tdbSNP:201842480
4700+, tdbSNP:67380110
4707+a, tdbSNP:146567608
4708+a, tdbSNP:4148726
4719+c, tdbSNP:149810643
4873+a, tdbSNP:151066046
4900+a, gdbSNP:17140308
4930+c, tdbSNP:73716217
5017+c, tdbSNP:180783619
5026+a, tdbSNP:185819383
5049+c, gdbSNP:192385679
5057+c, tdbSNP:147862180
5203+c, tdbSNP:61481156
5259+a, gdbSNP:146818281
5603+, gadbSNP:139314714
5618+a, cdbSNP:10234329
5662+c, tdbSNP:149773701
5732+a, tdbSNP:1042166
5761+c, tdbSNP:183653587
5824+c, tdbSNP:150494700
5826+c, tdbSNP:1042180
5869+a, gdbSNP:55831234
5875+, tdbSNP:67659665
5897+c, gdbSNP:190470955
5967+c, gdbSNP:143911642
5973+c, tdbSNP:3181644
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
Title CFTR mutations altering CFTR fragmentation .
Author Tosoni,K., Stobbart,M., Cassidy,D.M., Venerando,A., Pagano,M.A., Luz,S., Amaral,M.D., Kunzelmann,K., Pinna,L.A., Farinha,C.M. and Mehta,A.
Journal Biochem. J. 449 (1), 295-305 (2013)
Title Reduced PDZ interactions of rescued DeltaF508CFTR increases its cell surface mobility .
Author Valentine,C.D., Lukacs,G.L., Verkman,A.S. and Haggie,P.M.
Journal J. Biol. Chem. 287 (52), 43630-43638 (2012)
Title Regulation of activation and processing of the cystic fibrosis transmembrane conductance regulator (CFTR) by a complex electrostatic interaction between the regulatory domain and cytoplasmic loop 3 .
Author Wang,G. and Duan,D.D.
Journal J. Biol. Chem. 287 (48), 40484-40492 (2012)
Title CFTR polymorphisms of healthy individuals in two Chinese cities--Changchun and Nanjing .
Author Jin,C.X., Fujiki,K., Song,Y., Ping,Z., Nakakuki,M., Wei,M.X., Zhang,S.M., Ishiguro,H. and Naruse,S.
Journal Nagoya J Med Sci 74 (3-4), 293-301 (2012)
Title Measurements of CFTR-mediated Cl- secretion in human rectal biopsies constitute a robust biomarker for Cystic Fibrosis diagnosis and prognosis .
Author Sousa,M., Servidoni,M.F., Vinagre,A.M., Ramalho,A.S., Bonadia,L.C., Felicio,V., Ribeiro,M.A., Uliyakina,I., Marson,F.A., Kmit,A., Cardoso,S.R., Ribeiro,J.D., Bertuzzo,C.S., Sousa,L., Kunzelmann,K., Ribeiro,A.F. and Amaral,M.D.
Journal PLoS ONE 7 (10), E47708 (2012)
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,J.P., Meredith,A.L. and al-Jader,L.N.
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,C.T., McIntosh,I., Keston,M., Ferguson,A. and Brock,D.J.
Journal Hum. Mol. Genet. 1 (1), 11-17 (1992)
Title Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium .
Author Tsui,L.C.
Journal Hum. Mutat. 1 (3), 197-203 (1992)


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