• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu24147 Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA. pcDNA3.1+-DYK On-demand $2699.00 30
OHu24147C Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA. Customized vector On-demand $2699.00 30

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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_001089.2, 116734709
Length 5115 bp
Structure linear
Update Date 11-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.
Product ATP-binding cassette sub-family A member 3
Comment

Summary: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008].

RefSeq NP_001080.2
CDS 713..5827
Misc Feature(1)524..526
Misc Feature(2)776..838
Misc Feature(3)776..838
Misc Feature(4)1493..1561
Misc Feature(5)<1523..2119
Misc Feature(6)1631..1693
Misc Feature(7)1742..1804
Misc Feature(8)1829..1891
Misc Feature(9)1925..1987
Misc Feature(10)2051..2113
Misc Feature(11)2300..3229
Misc Feature(12)2300..2965
Misc Feature(13)2408..2431
Misc Feature(14)order(2417..2422,2426..2434,2549..2551,2777..2782,
Misc Feature(15)2540..2551
Misc Feature(16)2705..2734
Misc Feature(17)2765..2782
Misc Feature(18)2789..2800
Misc Feature(19)2861..2881
Misc Feature(20)3485..3547
Misc Feature(21)<3986..4516
Misc Feature(22)4010..4072
Misc Feature(23)4142..4204
Misc Feature(24)4259..4321
Misc Feature(25)4349..4411
Misc Feature(26)4445..4507
Misc Feature(27)4505..4507
Misc Feature(28)4514..4516
Misc Feature(29)4628..4690
Misc Feature(30)4853..5518
Misc Feature(31)4901..5788
Misc Feature(32)4958..4981
Misc Feature(33)order(4967..4972,4976..4984,5099..5101,5327..5332,
Misc Feature(34)5090..5101
Misc Feature(35)5255..5284
Misc Feature(36)5315..5332
Misc Feature(37)5339..5350
Misc Feature(38)5414..5434
Exon (1)1..174
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (2)175..381
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (3)382..686
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (4)687..766
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (5)767..1031
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (6)1032..1159
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (7)1160..1325
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (8)1326..1585
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (9)1586..1702
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (10)1703..1823
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (11)1824..1997
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (12)1998..2179
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (13)2180..2323
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (14)2324..2453
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (15)2454..2608
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (16)2609..2764
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (17)2765..2975
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (18)2976..3126
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (19)3127..3225
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (20)3226..3412
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (21)3413..3716
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (22)3717..3990
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (23)3991..4195
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (24)4196..4415
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (25)4416..4574
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (26)4575..4747
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (27)4748..4876
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (28)4877..5071
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (29)5072..5259
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (30)5260..5430
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (31)5431..5621
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (32)5622..5695
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Exon (33)5696..6623
Gene:ABCA3
Gene Synonym:ABC-C; ABC3; EST111653; LBM180; SMDP3
Translation MAVLRQLALLLWKNYTLQKRKVLVTVLELFLPLLFSGILIWLRLKIQSENVPNATIYPGQ SIQELPLFFTFPPPGDTWELAYIPSHSDAAKTVTETVRRALVINMRVRGFPSEKDFEDYI RYDNCSSSVLAAVVFEHPFNHSKEPLPLAVKYHLRFSYTRRNYMWTQTGSFFLKETEGWH TTSLFPLFPNPGPREPTSPDGGEPGYIREGFLAVQHAVDRAIMEYHADAATRQLFQRLTV TIKRFPYPPFIADPFLVAIQYQLPLLLLLSFTYTALTIARAVVQEKERRLKEYMRMMGLS SWLHWSAWFLLFFLFLLIAASFMTLLFCVKVKPNVAVLSRSDPSLVLAFLLCFAISTISF SFMVSTFFSKANMAAAFGGFLYFFTYIPYFFVAPRYNWMTLSQKLCSCLLSNVAMAMGAQ LIGKFEAKGMGIQWRDLLSPVNVDDDFCFGQVLGMLLLDSVLYGLVTWYMEAVFPGQFGV PQPWYFFIMPSYWCGKPRAVAGKEEEDSDPEKALRNEYFEAEPEDLVAGIKIKHLSKVFR VGNKDRAAVRDLNLNLYEGQITVLLGHNGAGKTTTLSMLTGLFPPTSGRAYISGYEISQD MVQIRKSLGLCPQHDILFDNLTVAEHLYFYAQLKGLSRQKCPEEVKQMLHIIGLEDKWNS RSRFLSGGMRRKLSIGIALIAGSKVLILDEPTSGMDAISRRAIWDLLQRQKSDRTIVLTT HFMDEADLLGDRIAIMAKGELQCCGSSLFLKQKYGAGYHMTLVKEPHCNPEDISQLVHHH VPNATLESSAGAELSFILPRESTHRFEGLFAKLEKKQKELGIASFGASITTMEEVFLRVG KLVDSSMDIQAIQLPALQYQHERRASDWAVDSNLCGAMDPSDGIGALIEEERTAVKLNTG LALHCQQFWAMFLKKAAYSWREWKMVAAQVLVPLTCVTLALLAINYSSELFDDPMLRLTL GEYGRTVVPFSVPGTSQLGQQLSEHLKDALQAEGQEPREVLGDLEEFLIFRASVEGGGFN ERCLVAASFRDVGERTVVNALFNNQAYHSPATALAVVDNLLFKLLCGPHASIVVSNFPQP RSALQAAKDQFNEGRKGFDIALNLLFAMAFLASTFSILAVSERAVQAKHVQFVSGVHVAS FWLSALLWDLISFLIPSLLLLVVFKAFDVRAFTRDGHMADTLLLLLLYGWAIIPLMYLMN FFFLGAATAYTRLTIFNILSGIATFLMVTIMRIPAVKLEELSKTLDHVFLVLPNHCLGMA VSSFYENYETRRYCTSSEVAAHYCKKYNIQYQENFYAWSAPGVGRFVASMAASGCAYLIL LFLIETNLLQRLRGILCALRRRRTLTELYTRMPVLPEDQDVADERTRILAPSPDSLLHTP LIIKELSKVYEQRVPLLAVDRLSLAVQKGECFGLLGFNGAGKTTTFKMLTGEESLTSGDA FVGGHRISSDVGKVRQRIGYCPQFDALLDHMTGREMLVMYARLRGIPERHIGACVENTLR GLLLEPHANKLVRTYSGGNKRKLSTGIALIGEPAVIFLDEPSTGMDPVARRLLWDTVARA RESGKAIIITSHSMEECEALCTRLAIMVQGQFKCLGSPQHLKSKFGSGYSLRAKVQSEGQ QEALEEFKAFVDLTFPGSVLEDEHQGMVHYHLPGRDLSWAKVFGILEKAKEKYGVDDYSV SQISLEQVFLSFAHLQPPTAEEGR
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Position Chain Variation Link
complement(2)-dbSNP:
complement(2)-g, cdbSNP:45583636
42+a, tdbSNP:45451291
152+a, cdbSNP:45456893
176+dbSNP:
176+a, gdbSNP:149209794
complement(214)-g, cdbSNP:111756450
complement(219)-t, cdbSNP:4146825
complement(223)-g, adbSNP:185078174
complement(292)-c, adbSNP:180863125
complement(316)-g, adbSNP:146642275
complement(345)-t, cdbSNP:189133667
complement(382)-dbSNP:
complement(382)-g, cdbSNP:45498101
complement(459)-t, cdbSNP:45442195
complement(459)-t, cdbSNP:386441495
complement(466)-g, adbSNP:375587005
complement(477)-g, cdbSNP:323048
complement(531)-g, adbSNP:45518738
complement(539)-g, cdbSNP:375560785
complement(544)-g, adbSNP:323049
complement(544)-g, adbSNP:386425585
complement(576)-g, cdbSNP:373769747
complement(593)-g, adbSNP:370407638
complement(646)-g, adbSNP:45487892
complement(678)-g, adbSNP:374204630
complement(684)-g, cdbSNP:17135880
complement(687)-dbSNP:
complement(687)-g, adbSNP:377547625
complement(697)-g, adbSNP:375400054
complement(704)-t, cdbSNP:78286222
complement(717)-t, gdbSNP:148662935
complement(739)-g, cdbSNP:143985974
complement(749)-t, adbSNP:376792674
complement(761)-g, adbSNP:201863796
complement(770)-dbSNP:
complement(770)-g, adbSNP:145242436
complement(771)-t, cdbSNP:201777730
complement(787)-t, cdbSNP:373150694
complement(805)-g, cdbSNP:369060359
complement(827)-g, cdbSNP:200090198
complement(839)-g, adbSNP:373617498
complement(861)-t, cdbSNP:140778917
complement(871)-g, adbSNP:191085051
complement(872)-t, cdbSNP:147278907
complement(886)-t, cdbSNP:143814058
complement(925)-g, adbSNP:117515055
complement(977)-t, cdbSNP:150902383
complement(986)-t, adbSNP:371562078
complement(988)-g, adbSNP:141601251
complement(989)-t, cdbSNP:199840288
complement(1005)-t, cdbSNP:149050042
1014+c, tdbSNP:121909182
complement(1029)-t, cdbSNP:371116381
complement(1036)-dbSNP:
complement(1036)-g, adbSNP:76930908
complement(1048)-g, adbSNP:138952710
complement(1057)-g, cdbSNP:148377880
complement(1079)-t, cdbSNP:145087575
complement(1082)-t, cdbSNP:201575440
complement(1083)-t, cdbSNP:142977595
complement(1089)-g, adbSNP:377155167
complement(1097)-t, cdbSNP:137924161
complement(1105)-g, adbSNP:145383120
complement(1109)-t, cdbSNP:201400258
complement(1124)-g, cdbSNP:369686350
1130+a, cdbSNP:45447801
complement(1152)-g, adbSNP:200171469
complement(1158)-g, adbSNP:145483014
complement(1162)-dbSNP:
complement(1162)-t, cdbSNP:74002800
complement(1186)-g, adbSNP:140860727
complement(1191)-t, cdbSNP:144220858
complement(1216)-t, cdbSNP:147644885
complement(1291)-t, cdbSNP:368234990
complement(1315)-g, adbSNP:200729333
complement(1320)-t, cdbSNP:374308831
1325+a, gdbSNP:397518426
complement(1346)-dbSNP:
complement(1346)-t, gdbSNP:139695699
complement(1352)-t, cdbSNP:147690211
complement(1369)-g, cdbSNP:371695471
complement(1370)-g, adbSNP:199797218
complement(1390)-g, adbSNP:201462041
complement(1393)-t, cdbSNP:45480502
complement(1399)-g, adbSNP:369426863
complement(1400)-t, cdbSNP:199567944
complement(1401)-g, adbSNP:148507388
complement(1406)-g, adbSNP:367773869
complement(1407)-t, cdbSNP:375127155
complement(1428)-g, adbSNP:370703021
complement(1432)-g, cdbSNP:374280659
complement(1447)-t, gdbSNP:371345421
complement(1449)-g, adbSNP:144653790
complement(1456)-t, cdbSNP:149353430
complement(1459)-t, cdbSNP:139952718
complement(1465)-g, adbSNP:146161376
complement(1474)-t, gdbSNP:142938848
complement(1477)-g, adbSNP:200087306
complement(1479)-t, adbSNP:200370884
complement(1480)-g, adbSNP:138445429
complement(1516)-g, cdbSNP:145342500
complement(1529)-g, adbSNP:146326337
complement(1534)-g, adbSNP:142073032
complement(1536)-g, adbSNP:148221984
complement(1543)-g, adbSNP:374008345
1549+c, tdbSNP:45468595
complement(1550)-g, adbSNP:201299260
complement(1551)-t, cdbSNP:143008553
complement(1558)-g, adbSNP:149038393
complement(1561)-t, cdbSNP:147636186
complement(1575)-t, cdbSNP:117603931
complement(1575)-g, adbSNP:386468419
complement(1587)-dbSNP:
complement(1587)-t, adbSNP:149989682
complement(1645)-t, cdbSNP:371857617
complement(1658)-g, adbSNP:147836461
complement(1663)-g, adbSNP:149720064
complement(1666)-t, cdbSNP:35161127
complement(1667)-t, cdbSNP:201341756
complement(1669)-g, adbSNP:368050715
complement(1684)-g, cdbSNP:111299452
1689+c, tdbSNP:121909185
complement(1694)-g, adbSNP:199765620
complement(1710)-dbSNP:
complement(1710)-g, cdbSNP:151278840
complement(1720)-g, cdbSNP:142260648
complement(1726)-t, cdbSNP:372032967
complement(1736)-t, cdbSNP:148726153
complement(1739)-g, cdbSNP:376521962
1741+c, tdbSNP:34096526
complement(1763)-g, adbSNP:374316190
complement(1769)-g, adbSNP:144557564
complement(1771)-g, adbSNP:13332514
complement(1818)-t, cdbSNP:146349964
complement(1843)-dbSNP:
complement(1843)-g, adbSNP:372074938
complement(1882)-g, cdbSNP:200199243
complement(1885)-g, adbSNP:201266990
complement(1886)-t, cdbSNP:368611725
complement(1888)-g, cdbSNP:372445392
complement(1894)-c, adbSNP:149407605
complement(1895)-g, adbSNP:201681616
complement(1961)-t, cdbSNP:199499811
complement(1984)-t, cdbSNP:201717660
complement(2033)-dbSNP:
complement(2033)-t, cdbSNP:374138846
complement(2047)-g, adbSNP:147185732
complement(2048)-t, cdbSNP:200803298
complement(2059)-g, adbSNP:369712420
complement(2060)-t, cdbSNP:377714049
complement(2144)-g, adbSNP:368903234
complement(2146)-g, cdbSNP:199642666
complement(2150)-t, cdbSNP:375876421
complement(2177)-t, c, adbSNP:150543946
complement(2209)-dbSNP:
complement(2209)-t, cdbSNP:368865276
complement(2214)-t, gdbSNP:141621969
complement(2261)-t, cdbSNP:201157181
complement(2275)-g, adbSNP:199781101
complement(2276)-t, cdbSNP:370347086
complement(2296)-t, cdbSNP:377539769
complement(2311)-c, adbSNP:375370131
complement(2312)-g, adbSNP:137950456
complement(2352)-dbSNP:
complement(2352)-g, adbSNP:373055135
complement(2357)-t, cdbSNP:369048340
complement(2376)-t, cdbSNP:147010047
complement(2384)-t, cdbSNP:374908506
complement(2393)-t, adbSNP:141389365
2414+a, gdbSNP:121909184
complement(2434)-g, adbSNP:138939503
complement(2465)-dbSNP:
complement(2465)-g, adbSNP:143113995
complement(2467)-g, cdbSNP:323043
complement(2470)-g, cdbSNP:145752658
complement(2477)-g, adbSNP:149808995
complement(2478)-t, cdbSNP:148843652
complement(2491)-g, adbSNP:372149258
complement(2492)-t, cdbSNP:368830525
complement(2496)-t, cdbSNP:375989185
complement(2512)-g, adbSNP:371747435
complement(2518)-g, adbSNP:367779123
complement(2552)-g, cdbSNP:146533411
complement(2554)-g, cdbSNP:201278906
complement(2581)-g, adbSNP:145502164
complement(2582)-t, cdbSNP:370684896
complement(2590)-t, gdbSNP:267604459
complement(2603)-t, cdbSNP:139738862
complement(2625)-dbSNP:
complement(2625)-t, cdbSNP:145269995
complement(2672)-g, cdbSNP:150910102
complement(2678)-t, cdbSNP:142391342
complement(2694)-t, cdbSNP:376672600
complement(2700)-t, cdbSNP:148780137
complement(2701)-t, gdbSNP:143947564
2715+a, gdbSNP:397518427
complement(2723)-g, adbSNP:183645105
complement(2743)-g, adbSNP:199835654
complement(2749)-g, adbSNP:367578394
complement(2790)-dbSNP:
complement(2790)-g, adbSNP:200835546
2798+a, gdbSNP:193920904
complement(2804)-t, gdbSNP:375570191
complement(2807)-c, adbSNP:138019085
complement(2831)-g, adbSNP:147341939
complement(2837)-g, adbSNP:148671332
complement(2838)-t, cdbSNP:377496477
complement(2853)-t, cdbSNP:187784898
complement(2884)-g, c, adbSNP:200855390
complement(2911)-g, adbSNP:138901284
complement(2928)-g, cdbSNP:150175668
complement(2944)-g, adbSNP:140823257
complement(2953)-t, cdbSNP:148046277
complement(2974)-g, adbSNP:370268801
complement(2980)-dbSNP:
complement(2980)-g, adbSNP:143552557
complement(2994)-g, adbSNP:369081312
complement(3008)-t, cdbSNP:45592239
complement(3013)-g, adbSNP:111704607
complement(3021)-g, adbSNP:143929832
complement(3022)-g, cdbSNP:376037988
3045+a, gdbSNP:34912779
3052+c, tdbSNP:45620539
complement(3066)-g, adbSNP:371756212
complement(3088)-g, adbSNP:145858649
complement(3094)-g, cdbSNP:200108994
complement(3154)-dbSNP:
complement(3154)-t, cdbSNP:147594326
3179+c, gdbSNP:397518428
complement(3227)-dbSNP:
complement(3227)-c, adbSNP:13332760
complement(3229)-g, adbSNP:149863262
complement(3239)-g, cdbSNP:373224846
complement(3251)-t, cdbSNP:369759665
complement(3263)-t, cdbSNP:376447224
complement(3300)-t, cdbSNP:202213896
complement(3305)-c, adbSNP:139882171
complement(3310)-g, adbSNP:369127242
complement(3326)-t, cdbSNP:151078160
complement(3356)-t, cdbSNP:145565697
complement(3358)-g, adbSNP:139524317
complement(3387)-t, cdbSNP:142687030
complement(3391)-g, adbSNP:199885252
complement(3403)-g, adbSNP:375096653
complement(3416)-dbSNP:
complement(3416)-t, cdbSNP:367680713
complement(3505)-c, adbSNP:373761450
complement(3508)-t, cdbSNP:138500355
complement(3510)-g, adbSNP:370682991
complement(3521)-t, cdbSNP:376036997
complement(3566)-t, cdbSNP:144138653
complement(3568)-g, adbSNP:146956803
complement(3569)-t, cdbSNP:138092785
complement(3572)-t, gdbSNP:368597916
complement(3602)-t, cdbSNP:141233327
complement(3610)-g, adbSNP:374605569
complement(3614)-t, cdbSNP:150340257
complement(3638)-c, adbSNP:200720375
complement(3651)-t, gdbSNP:370076414
complement(3658)-t, cdbSNP:374577775
complement(3676)-g, adbSNP:370517177
complement(3704)-g, adbSNP:374123670
complement(3715)-g, adbSNP:76519389
complement(3764)-dbSNP:
complement(3764)-t, cdbSNP:201700257
complement(3793)-t, cdbSNP:199726972
complement(3804)-t, cdbSNP:377712129
complement(3816)-t, cdbSNP:201973047
complement(3823)-g, adbSNP:374962078
3824+a, gdbSNP:34994813
complement(3877)-g, adbSNP:371943188
3878+a, gdbSNP:34671771
complement(3907)-t, cdbSNP:140502726
complement(3910)-g, adbSNP:200744282
complement(3918)-t, cdbSNP:112789659
complement(3919)-g, adbSNP:151260964
complement(3922)-g, adbSNP:201271814
complement(3932)-t, cdbSNP:199509814
complement(3943)-t, g, adbSNP:143240655
3945+a, cdbSNP:11539319
complement(3946)-g, adbSNP:149208294
complement(3953)-g, adbSNP:369277188
complement(3959)-c, adbSNP:145415984
3964+g, tdbSNP:11539320
complement(3991)-dbSNP:
complement(3991)-t, cdbSNP:148535912
complement(3996)-t, cdbSNP:144658303
complement(4021)-g, adbSNP:372940716
complement(4031)-t, cdbSNP:140114428
complement(4034)-t, cdbSNP:370330136
complement(4068)-t, gdbSNP:144354522
complement(4069)-t, cdbSNP:377461023
complement(4085)-t, cdbSNP:139516979
complement(4123)-g, adbSNP:150498812
4138+a, gdbSNP:121909181
complement(4182)-c, adbSNP:141635976
complement(4193)-g, cdbSNP:200224517
complement(4209)-dbSNP:
complement(4209)-g, adbSNP:148473733
complement(4214)-t, cdbSNP:146280732
complement(4216)-g, adbSNP:141725577
complement(4230)-g, adbSNP:117360590
complement(4231)-t, cdbSNP:202000806
complement(4232)-g, adbSNP:112168649
complement(4280)-c, adbSNP:200033258
complement(4314)-t, adbSNP:138715261
complement(4345)-t, cdbSNP:373682740
complement(4378)-g, adbSNP:145690940
complement(4390)-g, cdbSNP:370547279
complement(4433)-dbSNP:
complement(4433)-t, gdbSNP:141997453
complement(4453)-g, adbSNP:138817727
complement(4454)-t, cdbSNP:186401775
complement(4480)-g, adbSNP:113774992
complement(4495)-t, gdbSNP:200209913
complement(4496)-g, adbSNP:35089233
complement(4507)-g, adbSNP:140948738
complement(4524)-t, cdbSNP:371099401
complement(4527)-t, cdbSNP:151110890
complement(4549)-g, adbSNP:377568144
complement(4552)-t, gdbSNP:147123460
complement(4553)-t, cdbSNP:141745439
complement(4601)-dbSNP:
complement(4601)-t, cdbSNP:372603761
complement(4609)-g, adbSNP:147917344
complement(4626)-t, cdbSNP:368631015
complement(4645)-g, adbSNP:201051125
complement(4657)-g, adbSNP:144831867
complement(4672)-g, cdbSNP:368936980
complement(4689)-t, gdbSNP:376565433
complement(4696)-c, adbSNP:149050142
complement(4723)-g, adbSNP:144957382
complement(4724)-t, cdbSNP:149871856
complement(4735)-t, cdbSNP:111481371
complement(4739)-g, adbSNP:375124752
complement(4740)-t, cdbSNP:201643902
complement(4761)-dbSNP:
complement(4761)-g, cdbSNP:137863291
complement(4797)-g, adbSNP:145251229
complement(4801)-g, adbSNP:201762900
complement(4812)-t, cdbSNP:199636493
complement(4826)-t, gdbSNP:200972628
4828+c, tdbSNP:149532
complement(4831)-t, cdbSNP:139975191
complement(4839)-t, adbSNP:370692178
complement(4858)-c, adbSNP:145988737
complement(4883)-dbSNP:
complement(4883)-t, cdbSNP:141744909
complement(4890)-t, cdbSNP:148317800
complement(4906)-g, adbSNP:375731527
complement(4918)-g, cdbSNP:369224394
complement(4924)-g, adbSNP:200204553
complement(4925)-t, cdbSNP:144301862
complement(4926)-g, adbSNP:149559041
complement(4927)-t, cdbSNP:138340688
complement(4954)-c, adbSNP:200566505
complement(4965)-t, cdbSNP:147036502
complement(4972)-g, adbSNP:373102317
complement(4983)-g, adbSNP:369872536
complement(4994)-t, adbSNP:141811925
complement(5002..5003)-, cdbSNP:34902969
complement(5002)-g, cdbSNP:189737924
complement(5017)-g, adbSNP:199852776
5034+c, tdbSNP:397518429
complement(5066)-g, cdbSNP:375783245
complement(5082)-dbSNP:
complement(5082)-t, cdbSNP:201226715
complement(5105)-t, cdbSNP:201955122
complement(5108)-t, cdbSNP:139363080
complement(5119)-g, adbSNP:374931466
complement(5132)-g, adbSNP:146709251
complement(5133)-t, cdbSNP:182909111
complement(5137)-t, cdbSNP:191574837
complement(5152)-g, cdbSNP:367951064
complement(5163)-t, cdbSNP:200173380
complement(5189)-c, adbSNP:200641283
complement(5193)-g, cdbSNP:374902228
complement(5195)-t, cdbSNP:141058709
complement(5207)-g, adbSNP:370726273
complement(5239)-g, cdbSNP:368567938
complement(5251)-t, cdbSNP:374461000
complement(5254)-t, cdbSNP:147658887
complement(5260)-dbSNP:
complement(5260)-g, adbSNP:150953197
complement(5270)-t, gdbSNP:373704695
complement(5293)-g, adbSNP:375432317
complement(5302)-g, adbSNP:375910092
complement(5329)-g, adbSNP:369494610
complement(5348)-t, cdbSNP:143887432
complement(5353)-g, adbSNP:377356391
complement(5366)-g, adbSNP:200989416
5370+c, tdbSNP:121909183
complement(5394)-t, cdbSNP:373301521
complement(5398)-t, cdbSNP:201522512
complement(5428)-g, adbSNP:113705678
complement(5474)-dbSNP:
complement(5474)-t, cdbSNP:377298538
5484+a, cdbSNP:28936691
5534+g, tdbSNP:397518430
complement(5577)-t, gdbSNP:61747417
complement(5581)-t, cdbSNP:371567485
complement(5598)-g, adbSNP:368905104
complement(5604)-g, adbSNP:375181966
complement(5626)-dbSNP:
complement(5626)-g, adbSNP:372050103
complement(5656)-g, adbSNP:142584479
complement(5676)-t, cdbSNP:148823458
complement(5691)-g, adbSNP:146651498
complement(5732)-dbSNP:
complement(5732)-t, cdbSNP:202078936
complement(5734)-g, adbSNP:143176356
complement(5735)-t, cdbSNP:182503361
complement(5764)-c, adbSNP:370065784
complement(5803)-t, cdbSNP:377024671
complement(5809)-g, adbSNP:201641851
complement(5813)-t, cdbSNP:139954112
5835+c, tdbSNP:45477097
complement(5855..5856)-, cdbSNP:35174635
complement(5865)-t, gdbSNP:370767212
complement(5866)-t, cdbSNP:376631534
complement(5982)-t, cdbSNP:189931611
complement(6072)-g, adbSNP:185449958
complement(6139)-c, adbSNP:79337915
complement(6234)-t, cdbSNP:181270047
complement(6271)-, cdbSNP:34952913
complement(6275)-t, cdbSNP:373245476
complement(6355)-g, adbSNP:371221845
complement(6418)-g, adbSNP:188688704
complement(6439)-t, cdbSNP:368709738
complement(6532)-t, cdbSNP:141507206
complement(6566)-t, gdbSNP:112848120
complement(6567)-t, cdbSNP:183637156
6583+a, gdbSNP:45471792
Gene SymbolABCA3
Gene SynonymABC-C; ABC3; EST111653; LBM180; SMDP3
Chromosome16
Locus Map16p13.3
Title Novel mutation in ABCA3 resulting in fatal congenital surfactant deficiency in two siblings .
Author Moore GP, Lines MA, Geraghty MT, de Nanassy J and Kovesi T.
Journal Am. J. Respir. Crit. Care Med. 189 (6), 750-752 (2014)
Title Novel ABCA3 mutations as a cause of respiratory distress in a term newborn .
Author Goncalves JP, Pinheiro L, Costa M, Silva A, Goncalves A and Pereira A.
Journal Gene 534 (2), 417-420 (2014)
Title Disruption of N-linked glycosylation promotes proteasomal degradation of the human ATP-binding cassette transporter ABCA3 .
Author Beers MF, Zhao M, Tomer Y, Russo SJ, Zhang P, Gonzales LW, Guttentag SH and Mulugeta S.
Journal Am. J. Physiol. Lung Cell Mol. Physiol. 305 (12), L970-L980 (2013)
Title Interstitial lung disease in two brothers with novel compound heterozygous ABCA3 mutations .
Author Kitazawa H, Moriya K, Niizuma H, Kawano K, Saito-Nanjo Y, Uchiyama T, Rikiishi T, Sasahara Y, Sakamoto O, Setoguchi Y and Kure S.
Journal Eur. J. Pediatr. 172 (7), 953-957 (2013)
Title Tyrosinekinase inhibition facilitates cooperation of transcription factor SALL4 and ABC transporter A3 towards intrinsic CML cell drug resistance .
Author Hupfeld T, Chapuy B, Schrader V, Beutler M, Veltkamp C, Koch R, Cameron S, Aung T, Haase D, Larosee P, Truemper L and Wulf GG.
Journal Br. J. Haematol. 161 (2), 204-213 (2013)
Title ABCA3 gene mutations in newborns with fatal surfactant deficiency .
Author Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA and Dean M.
Journal N. Engl. J. Med. 350 (13), 1296-1303 (2004)
Title Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3 .
Author Mulugeta S, Gray JM, Notarfrancesco KL, Gonzales LW, Koval M, Feinstein SI, Ballard PL, Fisher AB and Shuman H.
Journal J. Biol. Chem. 277 (25), 22147-22155 (2002)
Title ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells .
Author Yamano G, Funahashi H, Kawanami O, Zhao LX, Ban N, Uchida Y, Morohoshi T, Ogawa J, Shioda S and Inagaki N.
Journal FEBS Lett. 508 (2), 221-225 (2001)
Title The cloning of a human ABC gene (ABC3) mapping to chromosome 16p13.3 .
Author Connors TD, Van Raay TJ, Petry LR, Klinger KW, Landes GM and Burn TC.
Journal Genomics 39 (2), 231-234 (1997)
Title Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein .
Author Klugbauer N and Hofmann F.
Journal FEBS Lett. 391 (1-2), 61-65 (1996)

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