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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens dystrophin (DMD), transcript variant Dp427p2, mRNA.


RefSeq Accession Definition Services Price Order
NM_004010 Homo sapiens dystrophin (DMD), transcript variant Dp427p2, mRNA. ORF Sequence Quote
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RefSeq Version NM_004010.3, 238018047
Length 14083 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens dystrophin (DMD), transcript variant Dp427p2, mRNA.
Product dystrophin Dp427p2 isoform
Comment

Summary: The dystrophin gene is the largest gene found in nature, measuring 2.4 Mb. The gene was identified through a positional cloning approach, targeted at the isolation of the gene responsible for Duchenne (DMD) and Becker (BMD) Muscular Dystrophies. DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 in 3,500 new-born males. BMD is a milder allelic form. In general, DMD patients carry mutations which cause premature translation termination (nonsense or frame shift mutations), while in BMD patients dystrophin is reduced either in molecular weight (derived from in-frame deletions) or in expression level. The dystrophin gene is highly complex, containing at least eight independent, tissue-specific promoters and two polyA-addition sites. Furthermore, dystrophin RNA is differentially spliced, producing a range of different transcripts, encoding a large set of protein isoforms. Dystrophin (as encoded by the Dp427 transcripts) is a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. Dystrophin is part of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. [provided by RefSeq, Jul 2008].


Transcript Variant: transcript Dp427p2 has an additional 82 nt directly after exon 1 which introduces a translational stop codon 24 bp downstream of the same ATG codon included in the Dp427p1 transcript. This transcript has unknown coding capacity.


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

RefSeq NP_004001.1
CDS 704..11392
Misc Feature(1)287..289
Misc Feature(2)737..1054
Misc Feature(3)737..1054
Misc Feature(4)order(737..742,746..754,761..763,770..772,932..937,
Misc Feature(5)1355..2008
Misc Feature(6)1676..1693
Misc Feature(7)1793..2341
Misc Feature(8)2006..2023
Misc Feature(9)2513..3133
Misc Feature(10)2819..2836
Misc Feature(11)3479..4123
Misc Feature(12)3797..3814
Misc Feature(13)4136..4756
Misc Feature(14)4436..4453
Misc Feature(15)4733..5362
Misc Feature(16)5039..5056
Misc Feature(17)5369..5662
Misc Feature(18)5444..6271
Misc Feature(19)5672..6238
Misc Feature(20)5960..5977
Misc Feature(21)6332..6958
Misc Feature(22)6638..6655
Misc Feature(23)6647..7294
Misc Feature(24)order(6959..6967,6971..6979)
Misc Feature(25)7748..8398
Misc Feature(26)8066..8083
Misc Feature(27)8402..9133
Misc Feature(28)8741..8758
Misc Feature(29)9137..>9469
Misc Feature(30)9455..9469
Misc Feature(31)9509..9598
Misc Feature(32)order(9548..9550,9581..9583)
Misc Feature(33)9593..9955
Misc Feature(34)9965..10240
Misc Feature(35)10265..10411
Misc Feature(36)order(10271..10273,10280..10282,10316..10318,10325..10327,
Misc Feature(37)order(10271..10273,10280..10282,10343..10345,10352..10354)
Misc Feature(38)order(10274..10276,10307..10309,10313..10315,10331..10333,
Misc Feature(39)order(10310..10312,10355..10357,10400..10402,10409..10411)
Misc Feature(40)order(10316..10318,10325..10327,10382..10384,10394..10396)
Misc Feature(41)10607..10609
Translation MKNIMAGLQQTNSEKILLSWVRQSTRNYPQVNVINFTTSWSDGLALNALIHSHRPDLFDW NSVVCQQSATQRLEHAFNIARYQLGIEKLLDPEDVDTTYPDKKSILMYITSLFQVLPQQV SIEAIQEVEMLPRPPKVTKEEHFQLHHQMHYSQQITVSLAQGYERTSSPKPRFKSYAYTQ AAYVTTSDPTRSPFPSQHLEAPEDKSFGSSLMESEVNLDRYQTALEEVLSWLLSAEDTLQ AQGEISNDVEVVKDQFHTHEGYMMDLTAHQGRVGNILQLGSKLIGTGKLSEDEETEVQEQ MNLLNSRWECLRVASMEKQSNLHRVLMDLQNQKLKELNDWLTKTEERTRKMEEEPLGPDL EDLKRQVQQHKVLQEDLEQEQVRVNSLTHMVVVVDESSGDHATAALEEQLKVLGDRWANI CRWTEDRWVLLQDILLKWQRLTEEQCLFSAWLSEKEDAVNKIHTTGFKDQNEMLSSLQKL AVLKADLEKKKQSMGKLYSLKQDLLSTLKNKSVTQKTEAWLDNFARCWDNLVQKLEKSTA QISQAVTTTQPSLTQTTVMETVTTVTTREQILVKHAQEELPPPPPQKKRQITVDSEIRKR LDVDITELHSWITRSEAVLQSPEFAIFRKEGNFSDLKEKVNAIEREKAEKFRKLQDASRS AQALVEQMVNEGVNADSIKQASEQLNSRWIEFCQLLSERLNWLEYQNNIIAFYNQLQQLE QMTTTAENWLKIQPTTPSEPTAIKSQLKICKDEVNRLSGLQPQIERLKIQSIALKEKGQG PMFLDADFVAFTNHFKQVFSDVQAREKELQTIFDTLPPMRYQETMSAIRTWVQQSETKLS IPQLSVTDYEIMEQRLGELQALQSSLQEQQSGLYYLSTTVKEMSKKAPSEISRKYQSEFE EIEGRWKKLSSQLVEHCQKLEEQMNKLRKIQNHIQTLKKWMAEVDVFLKEEWPALGDSEI LKKQLKQCRLLVSDIQTIQPSLNSVNEGGQKIKNEAEPEFASRLETELKELNTQWDHMCQ QVYARKEALKGGLEKTVSLQKDLSEMHEWMTQAEEEYLERDFEYKTPDELQKAVEEMKRA KEEAQQKEAKVKLLTESVNSVIAQAPPVAQEALKKELETLTTNYQWLCTRLNGKCKTLEE VWACWHELLSYLEKANKWLNEVEFKLKTTENIPGGAEEISEVLDSLENLMRHSEDNPNQI RILAQTLTDGGVMDELINEELETFNSRWRELHEEAVRRQKLLEQSIQSAQETEKSLHLIQ ESLTFIDKQLAAYIADKVDAAQMPQEAQKIQSDLTSHEISLEEMKKHNQGKEAAQRVLSQ IDVAQKKLQDVSMKFRLFQKPANFEQRLQESKMILDEVKMHLPALETKSVEQEVVQSQLN HCVNLYKSLSEVKSEVEMVIKTGRQIVQKKQTENPKELDERVTALKLHYNELGAKVTERK QQLEKCLKLSRKMRKEMNVLTEWLAATDMELTKRSAVEGMPSNLDSEVAWGKATQKEIEK QKVHLKSITEVGEALKTVLGKKETLVEDKLSLLNSNWIAVTSRAEEWLNLLLEYQKHMET FDQNVDHITKWIIQADTLLDESEKKKPQQKEDVLKRLKAELNDIRPKVDSTRDQAANLMA NRGDHCRKLVEPQISELNHRFAAISHRIKTGKASIPLKELEQFNSDIQKLLEPLEAEIQQ GVNLKEEDFNKDMNEDNEGTVKELLQRGDNLQQRITDERKREEIKIKQQLLQTKHNALKD LRSQRRKKALEISHQWYQYKRQADDLLKCLDDIEKKLASLPEPRDERKIKEIDRELQKKK EELNAVRRQAEGLSEDGAAMAVEPTQIQLSKRWREIESKFAQFRRLNFAQIHTVREETMM VMTEDMPLEISYVPSTYLTEITHVSQALLEVEQLLNAPDLCAKDFEDLFKQEESLKNIKD SLQQSSGRIDIIHSKKTAALQSATPVERVKLQEALSQLDFQWEKVNKMYKDRQGRFDRSV EKWRRFHYDIKIFNQWLTEAEQFLRKTQIPENWEHAKYKWYLKELQDGIGQRQTVVRTLN ATGEEIIQQSSKTDASILQEKLGSLNLRWQEVCKQLSDRKKRLEEQKNILSEFQRDLNEF VLWLEEADNIASIPLEPGKEQQLKEKLEQVKLLVEELPLRQGILKQLNETGGPVLVSAPI SPEEQDKLENKLKQTNLQWIKVSRALPEKQGEIEAQIKDLGQLEKKLEDLEEQLNHLLLW LSPIRNQLEIYNQPNQEGPFDVQETEIAVQAKQPDVEEILSKGQHLYKEKPATQPVKRKL EDLSSEWKAVNRLLQELRAKQPDLAPGLTTIGASPTQTVTLVTQPVVTKETAISKLEMPS SLMLEVPALADFNRAWTELTDWLSLLDQVIKSQRVMVGDLEDINEMIIKQKATMQDLEQR RPQLEELITAAQNLKNKTSNQEARTIITDRIERIQNQWDEVQEHLQNRRQQLNEMLKDST QWLEAKEEAEQVLGQARAKLESWKEGPYTVDAIQKKITETKQLAKDLRQWQTNVDVANDL ALKLLRDYSADDTRKVHMITENINASWRSIHKRVSEREAALEETHRLLQQFPLDLEKFLA WLTEAETTANVLQDATRKERLLEDSKGVKELMKQWQDLQGEIEAHTDVYHNLDENSQKIL RSLEGSDDAVLLQRRLDNMNFKWSELRKKSLNIRSHLEASSDQWKRLHLSLQELLVWLQL KDDELSRQAPIGGDFPAVQKQNDVHRAFKRELKTKEPVIMSTLETVRIFLTEQPLEGLEK LYQEPRELPPEERAQNVTRLLRKQAEEVNTEWEKLNLHSADWQRKIDETLERLQELQEAT DELDLKLRQAEVIKGSWQPVGDLLIDSLQDHLEKVKALRGEIAPLKENVSHVNDLARQLT TLGIQLSPYNLSTLEDLNTRWKLLQVAVEDRVRQLHEAHRDFGPASQHFLSTSVQGPWER AISPNKVPYYINHETQTTCWDHPKMTELYQSLADLNNVRFSAYRTAMKLRRLQKALCLDL LSLSAACDALDQHNLKQNDQPMDILQIINCLTTIYDRLEQEHNNLVNVPLCVDMCLNWLL NVYDTGRTGRIRVLSFKTGIISLCKAHLEDKYRYLFKQVASSTGFCDQRRLGLLLHDSIQ IPRQLGEVASFGGSNIEPSVRSCFQFANNKPEIEAALFLDWMRLEPQSMVWLPVLHRVAA AETAKHQAKCNICKECPIIGFRYRSLKHFNYDICQSCFFSGRVAKGHKMHYPMVEYCTPT TSGEDVRDFAKVLKNKFRTKRYFAKHPRMGYLPVQTVLEGDNMETPVTLINFWPVDSAPA SSPQLSHDDTHSRIEHYASRLAEMENSNGSYLNDSISPNESIDDEHLLIQHYCQSLNQDS PLSQPRSPAQILISLESEERGELERILADLEEENRNLQAEYDRLKQQHEHKGLSPLPSPP EMMPTSPQSPRDAELIAEAKLLRQHKGRLEARMQILEDHNKQLESQLHRLRQLLEQPQAE AKVNGTTVSSPSTSLQRSDSSQPMLLRVVGSQTSDSMGEEDLLSPPQDTSTGLEEVMEQL NNSFPSSRGRNTPGKPMREDTM
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Position Chain Variation Link
complement(44)-dbSNP:
complement(44)-t, cdbSNP:72470539
complement(67)-t, cdbSNP:7050537
complement(76)-t, cdbSNP:183485925
complement(107)-t, cdbSNP:192405161
complement(176)-t, cdbSNP:72470538
complement(202)-t, gdbSNP:188920803
complement(220)-g, cdbSNP:183809204
complement(326)-c, adbSNP:140077080
complement(428)-g, adbSNP:201790047
complement(479)-g, adbSNP:147548697
complement(495)-t, gdbSNP:128626231
complement(512)-t, cdbSNP:128626233
complement(538)-g, cdbSNP:150068287
complement(587)-t, cdbSNP:128626234
complement(629)-t, cdbSNP:149428656
complement(667)-t, adbSNP:138909301
complement(732)-c, adbSNP:1800256
complement(767)-t, c, adbSNP:128626235
complement(835)-c, adbSNP:150239235
complement(837)-c, adbSNP:128626236
complement(859)-g, adbSNP:113776167
complement(860)-t, gdbSNP:141028860
complement(871)-g, adbSNP:116605349
complement(940)-g, adbSNP:138335295
complement(1002)-g, adbSNP:201753859
complement(1025)-t, adbSNP:128626237
complement(1026)-t, cdbSNP:113412324
complement(1030)-g, cdbSNP:145668843
complement(1037)-t, gdbSNP:200177107
complement(1058)-t, cdbSNP:128626238
complement(1063)-t, cdbSNP:182730498
complement(1067)-t, cdbSNP:140510985
complement(1082)-t, gdbSNP:128626239
complement(1136)-t, cdbSNP:1800264
complement(1166)-t, cdbSNP:146785626
complement(1169)-g, adbSNP:128627255
complement(1171)-g, adbSNP:1800265
complement(1214)-g, adbSNP:188694739
complement(1252)-g, adbSNP:149106712
complement(1257)-t, gdbSNP:145064612
complement(1272)-g, adbSNP:201799335
complement(1362)-t, cdbSNP:61733589
complement(1400)-g, adbSNP:199981454
complement(1429)-c, adbSNP:1800266
complement(1432)-t, adbSNP:72470507
complement(1518)-t, cdbSNP:148511512
complement(1554)-g, adbSNP:200637510
complement(1559)-t, adbSNP:34155804
complement(1586)-t, adbSNP:201341211
complement(1652)-t, cdbSNP:189143447
complement(1671)-g, adbSNP:72468699
complement(1746)-t, gdbSNP:201058100
complement(1772)-t, gdbSNP:128626240
complement(1785)-t, cdbSNP:111904669
complement(1807)-t, cdbSNP:144303432
complement(1823)-t, cdbSNP:128626241
complement(1847)-g, cdbSNP:140340626
complement(1868)-g, adbSNP:147136371
complement(1879)-g, cdbSNP:141590890
complement(1888)-t, adbSNP:61733587
complement(1909)-t, cdbSNP:144372300
complement(1916)-t, cdbSNP:201067368
complement(1969)-t, cdbSNP:5927083
complement(1994)-g, adbSNP:138371531
complement(2000)-t, cdbSNP:182708940
complement(2004)-t, cdbSNP:1800257
complement(2008)-t, gdbSNP:1800258
complement(2021)-g, adbSNP:145739725
complement(2022)-t, cdbSNP:191197223
complement(2041)-g, adbSNP:142029039
complement(2052)-g, adbSNP:5972599
complement(2065)-t, adbSNP:150199251
complement(2143)-t, cdbSNP:192176661
complement(2146)-g, adbSNP:140919039
complement(2157)-g, adbSNP:189896732
complement(2158)-t, cdbSNP:151013182
complement(2201)-c, adbSNP:1800259
complement(2203)-t, cdbSNP:1800267
complement(2222)-g, adbSNP:72468692
complement(2253)-g, adbSNP:183677010
complement(2268)-t, cdbSNP:147822019
complement(2286)-g, adbSNP:128626242
complement(2322)-g, adbSNP:41309715
complement(2331)-g, adbSNP:34563188
complement(2351)-t, cdbSNP:128626232
complement(2372)-t, adbSNP:200504614
complement(2430)-g, cdbSNP:202008454
complement(2477)-t, adbSNP:16998350
complement(2500)-t, cdbSNP:147580966
complement(2517)-g, adbSNP:192004962
complement(2533)-g, adbSNP:149882431
complement(2595)-c, adbSNP:151242451
complement(2625)-t, cdbSNP:199588981
complement(2636)-g, c, adbSNP:201366610
complement(2642)-t, adbSNP:128626243
2648+g, tdbSNP:267606770
complement(2651)-g, adbSNP:128626244
complement(2680)-t, adbSNP:150692967
complement(2685)-g, cdbSNP:1800260
complement(2686)-g, adbSNP:142006072
complement(2720)-t, cdbSNP:139726281
complement(2725)-t, gdbSNP:72468681
complement(2734)-t, gdbSNP:142115986
complement(2791)-c, adbSNP:72468680
complement(2824)-t, cdbSNP:72468679
complement(2862)-t, adbSNP:202167701
complement(2867)-t, gdbSNP:149564232
complement(2873)-t, cdbSNP:138145424
complement(2891)-g, adbSNP:150387101
complement(2909)-t, adbSNP:187926894
complement(2950)-g, adbSNP:141423865
complement(2951)-g, adbSNP:200872948
complement(2979)-t, cdbSNP:228406
complement(3068)-t, cdbSNP:201549805
complement(3079)-t, gdbSNP:149922633
complement(3098)-c, adbSNP:185395584
complement(3114)-g, adbSNP:41312094
complement(3125)-t, gdbSNP:128625227
complement(3138)-c, adbSNP:190247714
complement(3161)-g, adbSNP:199986217
complement(3176)-t, cdbSNP:186628781
complement(3192)-g, adbSNP:142133195
complement(3218)-g, cdbSNP:150959827
complement(3305)-g, cdbSNP:72468667
complement(3322)-t, cdbSNP:148835707
complement(3352)-t, cdbSNP:181448075
complement(3354)-g, adbSNP:144732570
complement(3355)-g, adbSNP:1800268
complement(3364)-t, g, adbSNP:72468666
complement(3380)-g, adbSNP:199808421
complement(3381)-t, cdbSNP:139772014
complement(3416)-g, adbSNP:146384458
complement(3448)-t, cdbSNP:143810752
complement(3454)-t, cdbSNP:1800261
complement(3455)-t, cdbSNP:128626245
complement(3516)-t, cdbSNP:190014284
complement(3522)-g, adbSNP:128626246
complement(3525)-g, adbSNP:140106769
complement(3617)-c, adbSNP:183819382
complement(3660)-t, adbSNP:200596739
complement(3695)-g, adbSNP:150653420
complement(3709)-g, cdbSNP:191164314
complement(3713)-g, cdbSNP:141887693
complement(3729)-t, cdbSNP:200472080
complement(3740)-t, adbSNP:3827462
complement(3753)-t, cdbSNP:201297190
complement(3771)-t, adbSNP:201328377
complement(3779)-t, cdbSNP:144667422
complement(3784)-t, cdbSNP:142967431
complement(3803)-t, gdbSNP:128625226
complement(3806)-t, cdbSNP:182728059
complement(3844)-g, adbSNP:138945423
complement(3923)-t, gdbSNP:1800262
3965+g, tdbSNP:267606771
complement(3969)-g, adbSNP:142171890
complement(4039)-g, adbSNP:143628111
complement(4047)-t, cdbSNP:150333718
complement(4068)-t, cdbSNP:1800269
complement(4128)-g, cdbSNP:200213555
complement(4139)-g, adbSNP:151150099
complement(4166)-g, cdbSNP:1800270
complement(4274)-t, cdbSNP:5030730
complement(4285)-t, cdbSNP:199643655
complement(4304)-g, adbSNP:143184877
complement(4333)-g, adbSNP:140759792
complement(4334)-t, cdbSNP:146880270
complement(4364)-g, adbSNP:187617705
complement(4414)-t, cdbSNP:143900318
complement(4427)-g, adbSNP:148781346
complement(4459)-g, adbSNP:144329742
complement(4465)-t, adbSNP:1800263
complement(4496)-c, adbSNP:28715870
complement(4535)-t, cdbSNP:139318945
complement(4547)-t, cdbSNP:128626247
complement(4609)-g, adbSNP:72468647
complement(4740)-t, adbSNP:1057872
complement(4748)-t, cdbSNP:128626248
complement(4795)-t, adbSNP:199807625
complement(4799)-t, cdbSNP:143008889
complement(4863)-g, adbSNP:72468638
complement(4897)-t, cdbSNP:138984555
complement(5079)-g, adbSNP:147231219
complement(5124)-t, cdbSNP:36072930
complement(5185)-c, adbSNP:143719666
complement(5211)-t, adbSNP:72468634
complement(5212)-c, adbSNP:61733574
complement(5242)-t, cdbSNP:143538389
complement(5274)-g, adbSNP:148868095
complement(5276)-c, adbSNP:138472027
complement(5311)-t, cdbSNP:1801185
complement(5344)-c, adbSNP:144634939
complement(5350)-t, adbSNP:16990264
complement(5374)-t, cdbSNP:72468632
complement(5382)-g, cdbSNP:146420425
complement(5410)-t, cdbSNP:145181319
complement(5443)-g, adbSNP:141086798
complement(5478)-t, cdbSNP:151109270
complement(5493)-g, adbSNP:142930808
complement(5497)-g, cdbSNP:72468630
complement(5515)-t, adbSNP:200887855
complement(5516)-g, adbSNP:34102501
complement(5536)-t, gdbSNP:190285633
complement(5537)-g, adbSNP:147904018
complement(5542)-t, gdbSNP:144717862
complement(5550)-t, gdbSNP:200740165
complement(5568)-g, adbSNP:1801187
complement(5599)-g, adbSNP:145515413
complement(5604)-g, adbSNP:201516290
complement(5671)-g, adbSNP:201321189
complement(5697)-g, adbSNP:199774535
complement(5717)-g, cdbSNP:79541196
complement(5752)-g, adbSNP:149543306
complement(5793)-g, adbSNP:1800271
complement(5810)-g, cdbSNP:140913030
complement(5821)-t, cdbSNP:150787752
complement(5864)-c, adbSNP:1064325
complement(5866)-c, adbSNP:1801186
complement(5882)-t, cdbSNP:141261536
complement(5885)-t, cdbSNP:128625228
complement(5901)-t, gdbSNP:148246460
complement(5933)-g, cdbSNP:144718274
complement(5949)-t, gdbSNP:200246327
complement(5954)-t, cdbSNP:142441725
complement(6009)-t, cdbSNP:137898199
complement(6011)-g, adbSNP:186237022
complement(6035)-t, cdbSNP:201302282
complement(6057)-t, adbSNP:145266970
complement(6058)-g, adbSNP:143159113
complement(6086)-t, cdbSNP:199560875
complement(6109)-g, adbSNP:1800272
complement(6161)-t, cdbSNP:181849614
complement(6198)-t, cdbSNP:200455300
complement(6203)-g, adbSNP:145411883
complement(6233)-t, cdbSNP:128626249
complement(6267)-t, c, adbSNP:148135406
complement(6276)-g, adbSNP:140575687
complement(6318)-t, adbSNP:147927593
complement(6319)-t, gdbSNP:128627257
complement(6362)-t, gdbSNP:72468613
complement(6383)-t, gdbSNP:201532491
complement(6435)-t, adbSNP:144754029
complement(6439)-c, adbSNP:331312
complement(6477)-t, cdbSNP:200494003
complement(6485)-g, adbSNP:140791274
complement(6550)-t, cdbSNP:147685667
complement(6626)-t, cdbSNP:128626250
complement(6654)-t, cdbSNP:142807436
complement(6656)-g, adbSNP:16990169
complement(6707)-t, cdbSNP:128626251
complement(6797)-t, cdbSNP:1800273
complement(6843)-t, adbSNP:200981845
complement(6905)-g, adbSNP:149322279
complement(6957)-t, cdbSNP:139937177
complement(7060)-t, cdbSNP:145993057
complement(7066)-g, cdbSNP:142531761
complement(7094)-t, gdbSNP:201818335
complement(7121)-g, adbSNP:200045725
complement(7124)-t, cdbSNP:128626252
complement(7162)-t, cdbSNP:72466595
complement(7186)-t, gdbSNP:150312394
complement(7234)-g, adbSNP:200493074
complement(7246)-c, adbSNP:201598139
complement(7289)-t, cdbSNP:128625230
complement(7414)-g, adbSNP:1800274
complement(7419)-t, gdbSNP:141151675
complement(7430)-c, adbSNP:1800275
complement(7464)-g, adbSNP:201262489
complement(7485)-t, gdbSNP:185706283
complement(7513)-t, gdbSNP:202090289
complement(7517)-g, adbSNP:72466590
complement(7570)-g, cdbSNP:149003002
complement(7577)-g, adbSNP:139395045
complement(7622)-g, cdbSNP:200078222
complement(7655)-t, gdbSNP:146817002
complement(7657)-g, adbSNP:201919981
complement(7704)-g, adbSNP:182761135
complement(7736)-t, gdbSNP:128626253
complement(7788)-c, adbSNP:142500746
complement(7806)-t, cdbSNP:147694734
complement(7810)-g, adbSNP:142153424
complement(7855)-g, adbSNP:112516305
complement(7905)-t, cdbSNP:151244052
complement(7912)-t, cdbSNP:142236825
complement(8050)-t, cdbSNP:200571671
complement(8062)-t, cdbSNP:1801188
complement(8154)-t, adbSNP:72466581
complement(8253)-g, cdbSNP:146020545
complement(8257)-g, adbSNP:200170279
complement(8322)-g, cdbSNP:144103124
complement(8345)-t, cdbSNP:139254609
complement(8389)-g, adbSNP:1801189
complement(8410)-t, cdbSNP:144518527
complement(8579)-t, cdbSNP:149268097
complement(8604)-t, cdbSNP:201996040
complement(8642)-t, cdbSNP:138399787
complement(8656)-t, g, adbSNP:72466575
complement(8677)-g, cdbSNP:200729967
complement(8751)-t, cdbSNP:183999778
complement(8759)-g, adbSNP:143389016
complement(8770)-g, adbSNP:139365076
complement(8785..8786)-, cdbSNP:35527662
complement(8830)-c, adbSNP:72466574
complement(8877)-t, cdbSNP:146890210
complement(8905)-t, cdbSNP:72466570
complement(8913)-c, adbSNP:72466569
complement(8916)-g, adbSNP:181284440
complement(8990)-g, cdbSNP:201361100
complement(8994)-t, cdbSNP:112944659
complement(9047)-t, cdbSNP:128627256
complement(9063)-t, adbSNP:41305353
complement(9068)-g, adbSNP:1800278
complement(9075)-t, adbSNP:148950131
complement(9096)-g, adbSNP:1800279
complement(9100)-g, adbSNP:149776669
complement(9101)-c, adbSNP:116283249
complement(9140)-g, adbSNP:146517753
complement(9142)-g, adbSNP:144147061
complement(9144)-g, adbSNP:1800280
complement(9163)-t, cdbSNP:150766816
complement(9177)-g, adbSNP:201257027
complement(9181)-t, cdbSNP:185664502
complement(9186)-g, adbSNP:72466567
complement(9202)-g, cdbSNP:201123444
complement(9219)-g, adbSNP:151087470
complement(9260)-t, cdbSNP:142128738
complement(9278)-t, cdbSNP:128625229
complement(9308)-t, cdbSNP:201691420
complement(9317)-t, cdbSNP:148643665
complement(9366)-g, adbSNP:143925896
complement(9425)-t, cdbSNP:143426249
complement(9427)-t, cdbSNP:72466563
complement(9428)-g, adbSNP:72466562
complement(9499)-t, cdbSNP:137905486
complement(9531)-c, adbSNP:128626254
complement(9544)-t, cdbSNP:147336953
complement(9659)-c, adbSNP:201718067
complement(9686)-c, adbSNP:200928985
complement(9725)-t, cdbSNP:150462744
complement(9729)-t, gdbSNP:200592992
complement(9745)-t, gdbSNP:200715944
complement(9800)-t, cdbSNP:190177232
complement(9838)-g, cdbSNP:185247491
complement(9902)-t, cdbSNP:104894797
complement(9914)-t, gdbSNP:181517869
complement(10004)-t, cdbSNP:141504670
complement(10016)-g, adbSNP:141392048
complement(10028)-t, gdbSNP:145030353
complement(10138)-t, cdbSNP:12690372
complement(10222)-g, adbSNP:146543659
complement(10262)-t, cdbSNP:104894789
complement(10321)-t, cdbSNP:145595228
complement(10353)-g, adbSNP:104894788
complement(10420)-g, cdbSNP:201288384
complement(10442)-t, cdbSNP:104894787
complement(10475)-t, cdbSNP:104894790
complement(10494)-g, adbSNP:202219782
complement(10562)-g, cdbSNP:140381527
complement(10581)-t, cdbSNP:201217593
complement(10596)-t, cdbSNP:104894791
complement(10762)-g, adbSNP:190867451
complement(10859)-t, cdbSNP:149723217
complement(10911)-t, cdbSNP:139547504
complement(10943)-t, adbSNP:150957972
complement(10944)-t, gdbSNP:145123497
complement(10954)-g, adbSNP:72466538
complement(10977)-g, adbSNP:139492098
complement(10995)-t, cdbSNP:199974153
complement(11059)-t, cdbSNP:147346696
complement(11123)-t, cdbSNP:1800281
complement(11164)-t, cdbSNP:113604000
complement(11170)-g, adbSNP:148590546
complement(11244)-g, adbSNP:200166885
complement(11325)-t, cdbSNP:144819143
complement(11338)-t, adbSNP:184211223
complement(11352)-g, adbSNP:1795743
complement(11407)-t, cdbSNP:149405184
complement(11430)-t, cdbSNP:16989352
complement(11523)-g, adbSNP:404401
complement(11524)-t, gdbSNP:75075462
complement(11567)-t, gdbSNP:418795
complement(11597)-t, cdbSNP:5927686
complement(11661)-t, gdbSNP:418560
complement(11860..11869)-, atgtgtgtgtdbSNP:59588979
complement(11861..11868)-, tgtgtgtgdbSNP:68131847
complement(11865..11866)-, atgtdbSNP:199882209
complement(11865)-g, adbSNP:112111580
complement(11866..11867)-, gt, gtgtdbSNP:63123561
complement(11868..11869)-, atgtdbSNP:63332860
complement(11869..11882)-, tgtgtgtgtgtgtadbSNP:199552087
complement(11869..11878)-, tgtgtgtgtadbSNP:200467976
complement(11869..11870)-, tadbSNP:66790196
complement(11871..11872)-, tgtadbSNP:35017372
complement(11872..11873)-, acac, tacadbSNP:3833413
complement(11872..11873)-, tgtadbSNP:200834307
complement(11873)-g, adbSNP:112509940
complement(11881..11882)-, tgtgdbSNP:72287742
complement(11881)-g, adbSNP:45549534
complement(11883..11884)-, tgtgdbSNP:72300588
complement(11899)-g, adbSNP:185632747
complement(11963)-t, cdbSNP:192963364
complement(12019)-t, cdbSNP:187363115
complement(12037)-t, cdbSNP:182687817
complement(12043)-t, cdbSNP:149425144
complement(12078)-c, adbSNP:189948189
complement(12201)-g, adbSNP:138956803
complement(12247)-t, cdbSNP:150236690
complement(12316)-, acaadbSNP:72466531
complement(12344..12345)-, ttdbSNP:60841052
complement(12345..12346)-, ttdbSNP:200963373
complement(12360)-, tdbSNP:72466530
complement(12407)-t, gdbSNP:186667089
complement(12415)-t, cdbSNP:111354150
complement(12423..12430)-, caatcaacdbSNP:201552499
complement(12423..12426)-, caacdbSNP:200048960
complement(12423..12424)-, tcaadbSNP:59846267
complement(12423)-t, cdbSNP:112666076
complement(12427)-t, cdbSNP:112754560
complement(12437)-, adbSNP:202075326
complement(12440..12441)-, atc, aatcdbSNP:71860126
complement(12440)-, gatdbSNP:72466529
complement(12441..12444)-, atcadbSNP:200641250
complement(12441..12442)-, caatdbSNP:72082375
complement(12442..12443)-, tcaadbSNP:62871360
complement(12443..12444)-, atcadbSNP:62865960
complement(12444..12445)-, atcadbSNP:111646375
complement(12574)-g, adbSNP:187318961
complement(12580..12581)-, atcadbSNP:200311985
complement(12622)-g, cdbSNP:145871126
complement(12637)-, ctttdbSNP:72466527
complement(12677)-t, gdbSNP:142110702
complement(12793)-t, gdbSNP:182383454
complement(12839)-g, adbSNP:3361
complement(12847)-t, gdbSNP:191747923
complement(12957..12958)-, cttadbSNP:202212782
complement(12961)-, aaagdbSNP:72466526
complement(12983)-, tgttdbSNP:72466525
complement(13030)-t, cdbSNP:142520583
complement(13046)-g, cdbSNP:148472346
complement(13097)-t, cdbSNP:145632098
complement(13123)-c, adbSNP:3198427
complement(13150)-, ttcatdbSNP:72466524
complement(13175)-t, cdbSNP:7886658
complement(13191)-c, adbSNP:16989350
complement(13218)-g, cdbSNP:112358696
complement(13339)-t, cdbSNP:185921823
complement(13343..13344)-, adbSNP:201927678
complement(13430..13431)-, aadbSNP:200703281
complement(13431)-c, adbSNP:72466523
complement(13545)-, atgtgacgctggaccttdbSNP:72466522
complement(13547..13548)-, aaggtccagcgtcacatdbSNP:200762890
complement(13577)-t, adbSNP:11550191
complement(13616..13617)-, cttadbSNP:199643329
complement(13627..13628)-, cttadbSNP:67121194
complement(13629..13630)-, acttdbSNP:202154420
complement(13629)-, aagtdbSNP:72466521
complement(13734)-g, adbSNP:181280702
complement(13819)-g, adbSNP:1057915
complement(13955)-t, cdbSNP:188558013
complement(13973)-, acttdbSNP:72466520
Gene SymbolDMD
Gene SynonymBMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272
ChromosomeX
Locus MapXp21.2
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000109 Homo sapiens dystrophin (DMD), transcript variant Dp427c, mRNA. Full Length Quote
ORF Sequence Quote
NM_004006 Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. Full Length Quote
ORF Sequence Quote
NM_004007 Homo sapiens dystrophin (DMD), transcript variant Dp427l, mRNA. Full Length Quote
ORF Sequence Quote
NM_004009 Homo sapiens dystrophin (DMD), transcript variant Dp427p1, mRNA. Full Length Quote
ORF Sequence Quote
NM_004010 Homo sapiens dystrophin (DMD), transcript variant Dp427p2, mRNA. Full Length Quote
ORF Sequence Quote
NM_004011 Homo sapiens dystrophin (DMD), transcript variant Dp260-1, mRNA. Full Length Quote
ORF Sequence $3165.75
NM_004012 Homo sapiens dystrophin (DMD), transcript variant Dp260-2, mRNA. Full Length Quote
ORF Sequence $3161.70
NM_004013 Homo sapiens dystrophin (DMD), transcript variant Dp140, mRNA. Full Length $3334.50
ORF Sequence $1287.30
NM_004014 Homo sapiens dystrophin (DMD), transcript variant Dp116, mRNA. Full Length $2530.35
ORF Sequence $832.59
NM_004015 Homo sapiens dystrophin (DMD), transcript variant Dp71, mRNA. Full Length $1618.05
ORF Sequence $537.66
NM_004016 Homo sapiens dystrophin (DMD), transcript variant Dp71b, mRNA. Full Length $1606.85
ORF Sequence $553.32
NM_004017 Homo sapiens dystrophin (DMD), transcript variant Dp71a, mRNA. Full Length $1604.40
ORF Sequence $526.35
NM_004018 Homo sapiens dystrophin (DMD), transcript variant Dp71ab, mRNA. Full Length $1593.20
ORF Sequence $542.01
NM_004019 Homo sapiens dystrophin (DMD), transcript variant Dp40, mRNA. Full Length $455.59
ORF Sequence $296.67
NM_004020 Homo sapiens dystrophin (DMD), transcript variant Dp140c, mRNA. Full Length $3186.00
ORF Sequence $1171.80
NM_004021 Homo sapiens dystrophin (DMD), transcript variant Dp140b, mRNA. Full Length $3320.10
ORF Sequence $1306.20
NM_004022 Homo sapiens dystrophin (DMD), transcript variant D140ab, mRNA. Full Length $3302.55
ORF Sequence $1292.55
NM_004023 Homo sapiens dystrophin (DMD), transcript variant Dp140bc, mRNA. Full Length $3171.60
ORF Sequence $1190.70
Title Exon edited dystrophin rods in the hinge 3 region .
Author Sahni,N., Mangat,K., Le Rumeur,E. and Menhart,N.
Journal Biochim. Biophys. Acta 1824 (10), 1080-1089 (2012)
Title The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms .
Author Bovolenta,M., Erriquez,D., Valli,E., Brioschi,S., Scotton,C., Neri,M., Falzarano,M.S., Gherardi,S., Fabris,M., Rimessi,P., Gualandi,F., Perini,G. and Ferlini,A.
Journal PLoS ONE 7 (9), E45328 (2012)
Title Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype .
Author Brioschi,S., Gualandi,F., Scotton,C., Armaroli,A., Bovolenta,M., Falzarano,M.S., Sabatelli,P., Selvatici,R., D'Amico,A., Pane,M., Ricci,G., Siciliano,G., Tedeschi,S., Pini,A., Vercelli,L., De Grandis,D., Mercuri,E., Bertini,E., Merlini,L., Mongini,T. and Ferlini,A.
Journal BMC Med. Genet. 13, 73 (2012)
Title Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy .
Author Kapoor,S., Bindu,P.S., Taly,A.B., Sinha,S., Gayathri,N., Rani,S.V., Chandak,G.R. and Kumar,A.
Journal Mol. Vis. 18, 2022-2032 (2012)
Title Deletion of exon 26 of the dystrophin gene is associated with a mild Becker muscular dystrophy phenotype .
Author Witting,N., Duno,M. and Vissing,J.
Journal Acta Myol 30 (3), 182-184 (2011)
Title Detection of a nonsense mutation in the dystrophin gene by multiple .
Author Nigro,V., Politano,L., Nigro,G., Romano,S.C., Molinari,A.M. and Puca,G.A.
Journal Hum. Mol. Genet. 1 (7), 517-520 (1992)
Title Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters .
Author Gorecki,D.C., Monaco,A.P., Derry,J.M., Walker,A.P., Barnard,E.A. and Barnard,P.J.
Journal Hum. Mol. Genet. 1 (7), 505-510 (1992)
Title A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues .
Author Lederfein,D., Levy,Z., Augier,N., Mornet,D., Morris,G., Fuchs,O., Yaffe,D. and Nudel,U.
Journal Proc. Natl. Acad. Sci. U.S.A. 89 (12), 5346-5350 (1992)
Title Characterization and cell type distribution of a novel, major transcript of the Duchenne muscular dystrophy gene .
Author Rapaport,D., Lederfein,D., den Dunnen,J.T., Grootscholten,P.M., Van Ommen,G.J., Fuchs,O., Nudel,U. and Yaffe,D.
Journal Differentiation 49 (3), 187-193 (1992)
Title The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein .
Author Koenig,M., Monaco,A.P. and Kunkel,L.M.
Journal Cell 53 (2), 219-228 (1988)

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