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


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu24058 Homo sapiens dystrophin (DMD), transcript variant Dp427p2, mRNA. pcDNA3.1+-DYK On-demand TBD TBD
OHu24058C Homo sapiens dystrophin (DMD), transcript variant Dp427p2, mRNA. Customized vector On-demand TBD TBD

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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_004010.3, 238018047
Length 10689 bp
Structure linear
Update Date 11-MAY-2014
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)2012..2815
Misc Feature(8)2336..2353
Misc Feature(9)2513..3133
Misc Feature(10)2819..2836
Misc Feature(11)3161..3790
Misc Feature(12)3470..3487
Misc Feature(13)3479..4123
Misc Feature(14)3797..3814
Misc Feature(15)3818..4441
Misc Feature(16)order(4124..4132,4136..4144)
Misc Feature(17)4136..4756
Misc Feature(18)4436..4453
Misc Feature(19)4733..5362
Misc Feature(20)5039..5056
Misc Feature(21)5369..5662
Misc Feature(22)5444..6256
Misc Feature(23)5672..6238
Misc Feature(24)5960..5977
Misc Feature(25)5966..6640
Misc Feature(26)6314..6331
Misc Feature(27)6647..7294
Misc Feature(28)order(6959..6967,6971..6979)
Misc Feature(29)7748..8398
Misc Feature(30)8066..8083
Misc Feature(31)8402..9133
Misc Feature(32)8741..8758
Misc Feature(33)9137..>9469
Misc Feature(34)9455..9469
Misc Feature(35)9509..9598
Misc Feature(36)order(9548..9550,9581..9583)
Misc Feature(37)9593..9955
Misc Feature(38)9965..10240
Misc Feature(39)10265..10411
Misc Feature(40)order(10271..10273,10280..10282,10316..10318,10325..10327,
Misc Feature(41)order(10271..10273,10280..10282,10343..10345,10352..10354)
Misc Feature(42)order(10274..10276,10307..10309,10313..10315,10331..10333,
Misc Feature(43)order(10310..10312,10355..10357,10400..10402,10409..10411)
Misc Feature(44)order(10316..10318,10325..10327,10382..10384,10394..10396)
Misc Feature(45)10607..10609
Exon (1)1..365
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (2)366..427
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (3)428..520
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (4)521..598
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (5)599..691
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (6)692..864
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (7)865..983
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (8)984..1165
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (9)1166..1294
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (10)1295..1483
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (11)1484..1665
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (12)1666..1816
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (13)1817..1936
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (14)1937..2038
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (15)2039..2146
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (16)2147..2326
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (17)2327..2502
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (18)2503..2626
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (19)2627..2714
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (20)2715..2956
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (21)2957..3137
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (22)3138..3283
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (23)3284..3496
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (24)3497..3610
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (25)3611..3766
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (26)3767..3937
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (27)3938..4120
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (28)4121..4255
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (29)4256..4405
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (30)4406..4567
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (31)4568..4678
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (32)4679..4852
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (33)4853..5008
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (34)5009..5179
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (35)5180..5359
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (36)5360..5488
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (37)5489..5659
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (38)5660..5782
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (39)5783..5920
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (40)5921..6073
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (41)6074..6256
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (42)6257..6451
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (43)6452..6624
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (44)6625..6772
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (45)6773..6948
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (46)6949..7096
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (47)7097..7246
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (48)7247..7432
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (49)7433..7534
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (50)7535..7643
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (51)7644..7876
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (52)7877..7994
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (53)7995..8206
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (54)8207..8361
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (55)8362..8551
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (56)8552..8724
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (57)8725..8881
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (58)8882..9002
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (59)9003..9271
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (60)9272..9418
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (61)9419..9497
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (62)9498..9558
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (63)9559..9620
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (64)9621..9695
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (65)9696..9897
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (66)9898..9983
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (67)9984..10141
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (68)10142..10308
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (69)10309..10420
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (70)10421..10557
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (71)10558..10596
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (72)10597..10662
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (73)10663..10728
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (74)10729..10887
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (75)10888..11131
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (76)11132..11255
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (77)11256..11348
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (78)11349..11380
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Exon (79)11381..14083
Gene:DMD
Gene Synonym:BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
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
44+dbSNP:
44+c, tdbSNP:72470539
complement(67)-t, cdbSNP:7050537
complement(76)-t, cdbSNP:183485925
complement(90)-g, adbSNP:372113166
complement(107)-t, cdbSNP:192405161
176+c, tdbSNP:72470538
complement(198)-g, adbSNP:377083295
complement(202)-t, gdbSNP:188920803
complement(209)-t, cdbSNP:372729586
complement(220)-g, cdbSNP:183809204
complement(326)-c, adbSNP:140077080
396+dbSNP:
396+c, tdbSNP:398124010
complement(428)-dbSNP:
complement(428)-g, adbSNP:201790047
471+a, tdbSNP:398123858
472..473+, atdbSNP:398123859
474+a, gdbSNP:398123860
complement(479)-g, adbSNP:147548697
494..496+, ctcdbSNP:398123864
495+g, tdbSNP:128626231
512+c, tdbSNP:128626233
533+dbSNP:
533+g, tdbSNP:398123871
538..539+, cdbSNP:398123874
complement(538)-g, cdbSNP:150068287
554+, cdbSNP:398123880
585+, tdbSNP:398123893
587+c, tdbSNP:128626234
610+dbSNP:
610+a, gdbSNP:398123906
611+a, gdbSNP:398123907
complement(629)-t, cdbSNP:149428656
648+a, tdbSNP:398123928
complement(667)-t, adbSNP:138909301
670+a, gdbSNP:398123936
complement(700)-dbSNP:
complement(700)-g, adbSNP:369393046
732+a, cdbSNP:1800256
746..747+, aadbSNP:398123949
767+a, c, tdbSNP:128626235
768+c, gdbSNP:398123952
complement(777)-g, adbSNP:377054762
812+a, cdbSNP:398123967
823+a, gdbSNP:398123970
complement(835)-c, adbSNP:150239235
837+a, cdbSNP:128626236
complement(859)-g, adbSNP:113776167
complement(860)-t, gdbSNP:141028860
866+dbSNP:
866+c, tdbSNP:398123989
complement(871)-g, adbSNP:116605349
917+c, tdbSNP:398123999
complement(940)-g, adbSNP:138335295
949+a, tdbSNP:398124004
complement(960)-g, adbSNP:372832497
complement(967)-t, cdbSNP:367557830
complement(1002)-dbSNP:
complement(1002)-g, adbSNP:201753859
1010..1012+, aagdbSNP:398124034
1025+a, tdbSNP:128626237
complement(1026)-t, cdbSNP:113412324
complement(1027)-g, adbSNP:374222301
complement(1030)-g, cdbSNP:145668843
complement(1037)-t, gdbSNP:200177107
1058+c, tdbSNP:128626238
complement(1063)-t, cdbSNP:182730498
complement(1067)-t, cdbSNP:140510985
1082+g, tdbSNP:128626239
complement(1136)-t, cdbSNP:1800264
1165+g, tdbSNP:398124067
1169+dbSNP:
1169+a, gdbSNP:128627255
complement(1170)-g, adbSNP:369135184
complement(1171)-g, adbSNP:1800265
complement(1214)-g, adbSNP:188694739
complement(1218)-t, cdbSNP:377587957
complement(1252)-g, adbSNP:149106712
complement(1257)-t, gdbSNP:145064612
complement(1272)-g, adbSNP:201799335
1345+dbSNP:
1345+g, tdbSNP:398123829
1346+g, tdbSNP:398123830
complement(1362)-t, cdbSNP:61733589
1382+g, tdbSNP:398123840
complement(1392)-g, adbSNP:374713915
complement(1400)-g, adbSNP:199981454
complement(1429)-c, adbSNP:1800266
1432+a, tdbSNP:72470507
complement(1518)-dbSNP:
complement(1518)-t, cdbSNP:148511512
1545+g, tdbSNP:398123851
complement(1554)-g, adbSNP:200637510
complement(1559)-t, adbSNP:34155804
complement(1577)-t, cdbSNP:367774853
complement(1586)-t, adbSNP:201341211
1595+c, tdbSNP:398123852
1620+a, cdbSNP:398123853
complement(1633)-g, adbSNP:372135475
1640..1641+, gdbSNP:398123854
1645+g, tdbSNP:398123855
complement(1652)-t, cdbSNP:189143447
1671+dbSNP:
1671+a, gdbSNP:72468699
1676..1677+, agdbSNP:398123856
1705+, gdbSNP:398123857
complement(1717)-g, adbSNP:373729675
complement(1745)-t, cdbSNP:369834329
complement(1746)-t, gdbSNP:201058100
complement(1766)-g, adbSNP:375337020
1772+g, tdbSNP:128626240
complement(1785)-t, cdbSNP:111904669
1799+c, tdbSNP:398123861
complement(1805)-g, cdbSNP:373489300
complement(1807)-t, cdbSNP:144303432
1823+dbSNP:
1823+c, tdbSNP:128626241
complement(1843)-t, cdbSNP:372526458
complement(1847)-g, cdbSNP:140340626
1863..1864+, tcdbSNP:398123863
complement(1868)-g, adbSNP:147136371
complement(1871)-t, cdbSNP:368326458
complement(1879)-g, cdbSNP:141590890
complement(1888)-t, adbSNP:61733587
complement(1909)-t, cdbSNP:144372300
complement(1916)-t, cdbSNP:201067368
1949+dbSNP:
1949+c, tdbSNP:398123865
complement(1969)-t, cdbSNP:5927083
complement(1969)-g, adbSNP:386600444
complement(1994)-g, adbSNP:138371531
complement(2000)-t, cdbSNP:182708940
2004+c, tdbSNP:1800257
2008+g, tdbSNP:1800258
complement(2021)-g, adbSNP:145739725
complement(2022)-t, cdbSNP:191197223
complement(2041)-dbSNP:
complement(2041)-g, adbSNP:142029039
complement(2052)-g, adbSNP:5972599
complement(2058)-g, adbSNP:370644567
complement(2062)-t, gdbSNP:373050370
complement(2065)-t, adbSNP:150199251
2068+, adbSNP:398123866
complement(2088)-c, adbSNP:376238937
complement(2095)-t, cdbSNP:370103963
complement(2143)-t, cdbSNP:192176661
complement(2146)-g, adbSNP:140919039
complement(2157)-dbSNP:
complement(2157)-g, adbSNP:189896732
complement(2158)-t, cdbSNP:151013182
complement(2164)-t, cdbSNP:369223666
complement(2182)-t, g, adbSNP:376024929
2201+a, cdbSNP:1800259
complement(2203)-t, cdbSNP:1800267
complement(2203)-t, cdbSNP:386477208
2220+a, cdbSNP:398123867
2222+a, gdbSNP:72468692
2234+a, tdbSNP:398123868
2237..2238+, aagtdbSNP:398123869
complement(2244)-g, adbSNP:371742357
complement(2253)-g, adbSNP:183677010
complement(2268)-t, cdbSNP:147822019
2286+a, gdbSNP:128626242
complement(2322)-g, adbSNP:41309715
2324+c, tdbSNP:398123870
complement(2331)-dbSNP:
complement(2331)-g, adbSNP:34563188
2351+c, tdbSNP:128626232
complement(2353)-t, cdbSNP:370310164
2366..2367+, cadbSNP:398123873
2366+c, tdbSNP:398123872
complement(2372)-t, adbSNP:200504614
complement(2373)-t, gdbSNP:367769606
complement(2430)-g, cdbSNP:202008454
complement(2432)-g, cdbSNP:374577724
2459+, cdbSNP:398123875
complement(2460)-t, cdbSNP:370459675
2471+c, tdbSNP:398123876
complement(2477)-t, adbSNP:16998350
complement(2500)-t, cdbSNP:147580966
2507+dbSNP:
2507+g, tdbSNP:398123879
complement(2517)-g, adbSNP:192004962
complement(2527)-c, adbSNP:370979984
complement(2533)-g, adbSNP:149882431
complement(2583)-g, adbSNP:377539940
complement(2585)-g, adbSNP:373475448
complement(2594)-c, adbSNP:369017141
complement(2595)-c, adbSNP:151242451
2615..2619+, gaaaadbSNP:398123881
complement(2625)-t, cdbSNP:199588981
2628..2631+dbSNP:
2628..2631+, ccatdbSNP:398123882
complement(2630)-t, cdbSNP:372490563
complement(2636)-g, c, adbSNP:201366610
2642+a, tdbSNP:128626243
2648+g, tdbSNP:267606770
2651+a, gdbSNP:128626244
complement(2665)-g, cdbSNP:369659071
2666+c, tdbSNP:398123883
complement(2680)-t, adbSNP:150692967
2685+c, gdbSNP:1800260
complement(2686)-g, adbSNP:142006072
complement(2701)-t, cdbSNP:376648723
2714+a, gdbSNP:398123886
complement(2720)-dbSNP:
complement(2720)-t, cdbSNP:139726281
complement(2725)-t, gdbSNP:72468681
complement(2734)-t, gdbSNP:142115986
2753+c, tdbSNP:398123888
2770+a, gdbSNP:398123889
2791+a, cdbSNP:72468680
2813+, gdbSNP:398123890
2816+g, tdbSNP:398123891
2824+c, tdbSNP:72468679
complement(2828)-t, cdbSNP:370656879
2852+c, tdbSNP:398123892
2857+, adbSNP:398123894
complement(2862)-t, adbSNP:202167701
complement(2867)-t, gdbSNP:149564232
complement(2873)-t, cdbSNP:138145424
2881+, tdbSNP:398123895
complement(2891)-g, adbSNP:150387101
2907+a, cdbSNP:398123896
complement(2908)-g, cdbSNP:370399617
complement(2909)-t, adbSNP:187926894
2915+a, tdbSNP:398123897
2941+c, gdbSNP:398123898
2946+a, cdbSNP:398123899
2948..2949+, ggtggctcacdbSNP:398123900
complement(2950)-g, adbSNP:141423865
complement(2951)-g, adbSNP:200872948
complement(2954)-t, cdbSNP:376771463
complement(2979)-dbSNP:
complement(2979)-t, cdbSNP:228406
2984+c, tdbSNP:398123903
3016+c, tdbSNP:398123904
complement(3026)-t, cdbSNP:369648601
complement(3051)-g, adbSNP:375557173
complement(3058)-c, adbSNP:372780045
complement(3060)-g, adbSNP:370014420
complement(3068)-t, cdbSNP:201549805
complement(3079)-t, gdbSNP:149922633
3092+c, tdbSNP:398123905
complement(3098)-c, adbSNP:185395584
complement(3114)-g, adbSNP:41312094
3125+g, tdbSNP:128625227
complement(3138)-dbSNP:
complement(3138)-c, adbSNP:190247714
3150+a, tdbSNP:398123910
complement(3156)-g, adbSNP:373914964
complement(3158)-t, cdbSNP:371648742
complement(3161)-g, adbSNP:199986217
3162+a, gdbSNP:398123911
complement(3176)-t, cdbSNP:186628781
complement(3192)-g, adbSNP:142133195
3200+c, tdbSNP:398123912
complement(3218)-g, cdbSNP:150959827
3263..3264+, cdbSNP:398123914
complement(3272)-t, cdbSNP:374102077
3288+dbSNP:
3288+a, tdbSNP:398123916
3305+c, gdbSNP:72468667
3311+c, tdbSNP:398123917
complement(3322)-t, cdbSNP:148835707
complement(3352)-t, cdbSNP:181448075
complement(3354)-g, adbSNP:144732570
complement(3355)-g, adbSNP:1800268
3356+a, tdbSNP:398123918
3364+a, g, tdbSNP:72468666
complement(3380)-g, adbSNP:199808421
complement(3381)-t, cdbSNP:139772014
3393+c, gdbSNP:398123919
complement(3408)-g, adbSNP:376163041
3410+g, tdbSNP:398123920
complement(3414)-g, cdbSNP:370171367
complement(3416)-g, adbSNP:146384458
3421+a, gdbSNP:398123921
complement(3432)-g, adbSNP:377415288
complement(3448)-t, cdbSNP:143810752
3454+c, tdbSNP:1800261
3455+c, tdbSNP:128626245
3458+a, tdbSNP:398123927
complement(3468)-t, adbSNP:373495745
complement(3477)-t, cdbSNP:367906493
3485+c, tdbSNP:398123929
complement(3516)-dbSNP:
complement(3516)-t, cdbSNP:190014284
3522+a, gdbSNP:128626246
complement(3525)-g, adbSNP:140106769
3551+a, gdbSNP:398123931
complement(3566)-g, adbSNP:375329908
3580..3581+, tttctaaaaadbSNP:398123932
complement(3604)-t, cdbSNP:373475857
complement(3617)-dbSNP:
complement(3617)-c, adbSNP:183819382
3629+c, tdbSNP:398123935
complement(3660)-t, adbSNP:200596739
complement(3695)-g, adbSNP:150653420
complement(3708)-g, c, adbSNP:374744331
complement(3709)-g, cdbSNP:191164314
complement(3713)-g, cdbSNP:141887693
complement(3729)-t, cdbSNP:200472080
complement(3739)-g, adbSNP:373182842
complement(3740)-t, adbSNP:3827462
complement(3753)-t, cdbSNP:201297190
complement(3771)-dbSNP:
complement(3771)-t, adbSNP:201328377
complement(3779)-t, cdbSNP:144667422
3780+a, gdbSNP:398123940
complement(3784)-t, cdbSNP:142967431
3803+g, tdbSNP:128625226
complement(3806)-t, cdbSNP:182728059
complement(3816)-t, cdbSNP:371273141
3836+g, tdbSNP:398123941
complement(3839)-t, cdbSNP:367683746
complement(3844)-g, adbSNP:138945423
complement(3882)-g, cdbSNP:374993642
complement(3901)-t, adbSNP:370685748
3914+c, tdbSNP:398123942
3923+g, tdbSNP:1800262
3965+g, tdbSNP:267606771
complement(3969)-g, adbSNP:142171890
3973..3974+, adbSNP:398123943
complement(4000)-g, adbSNP:373281760
complement(4030)-t, gdbSNP:369971712
4031+, cdbSNP:398123944
complement(4039)-g, adbSNP:143628111
complement(4047)-t, cdbSNP:150333718
complement(4061)-g, adbSNP:374715206
complement(4068)-t, cdbSNP:1800269
4081+, gdbSNP:398123945
4113..4119+ctttgga, ggdbSNP:398123946
complement(4128)-dbSNP:
complement(4128)-g, cdbSNP:200213555
complement(4139)-g, adbSNP:151150099
4166+c, gdbSNP:1800270
complement(4270)-dbSNP:
complement(4270)-g, cdbSNP:377156960
4274+c, tdbSNP: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
4405+c, gdbSNP:398123947
complement(4414)-dbSNP:
complement(4414)-t, cdbSNP:143900318
complement(4427)-g, adbSNP:148781346
complement(4435)-t, cdbSNP:267606434
4451+c, tdbSNP:398123948
complement(4459)-g, adbSNP:144329742
4465+a, g, tdbSNP:1800263
complement(4496)-c, adbSNP:28715870
complement(4496)-c, adbSNP:386575881
complement(4510)-t, cdbSNP:372863584
complement(4530)-t, cdbSNP:369380616
complement(4535)-t, cdbSNP:139318945
complement(4539)-t, cdbSNP:377043643
4547+c, tdbSNP:128626247
complement(4582)-dbSNP:
complement(4582)-g, adbSNP:374513637
complement(4609)-g, adbSNP:72468647
complement(4617)-t, cdbSNP:371585389
complement(4631)-g, cdbSNP:371601285
4648..4649+, aadbSNP:398123950
4709+dbSNP:
4709+c, tdbSNP:398123953
4739+c, tdbSNP:398123954
4740+a, tdbSNP:1057872
4746..4747+, gtctdbSNP:398123955
4748+c, tdbSNP:128626248
4755+c, gdbSNP:398123956
complement(4761)-g, adbSNP:371646182
complement(4763)-t, adbSNP:376143404
complement(4795)-t, adbSNP:199807625
complement(4799)-t, cdbSNP:143008889
complement(4801)-t, gdbSNP:373162382
4805..4806+, aadbSNP:398123957
complement(4814)-t, cdbSNP:369118010
4820+, gdbSNP:398123958
4834+, adbSNP:398123959
complement(4863)-dbSNP:
complement(4863)-g, adbSNP:72468638
4868..4869+, ctdbSNP:398123961
4879..4883+, gaagtdbSNP:398123962
complement(4897)-t, cdbSNP:138984555
complement(4939)-t, cdbSNP:374871728
4968..4969+, tdbSNP:398123963
5069+dbSNP:
5069+g, tdbSNP:398123964
5078+a, gdbSNP:398123965
complement(5079)-g, adbSNP:147231219
5109+c, tdbSNP:398123966
complement(5124)-t, cdbSNP:36072930
complement(5165)-c, adbSNP:371634786
5176+a, tdbSNP:398123968
5177+a, tdbSNP:398123969
complement(5181)-dbSNP:
complement(5181)-g, cdbSNP:370167370
complement(5185)-c, adbSNP:143719666
complement(5196)-g, adbSNP:377412251
complement(5202)-t, cdbSNP:373480671
5211+a, tdbSNP:72468634
complement(5212)-c, adbSNP:61733574
complement(5231)-g, cdbSNP:370800101
5236..5242+, aggagagdbSNP:398123971
complement(5242)-t, cdbSNP:143538389
complement(5258)-g, adbSNP:376720373
complement(5262)-g, cdbSNP:373723470
complement(5263)-g, cdbSNP:369670845
complement(5274)-g, adbSNP:148868095
complement(5276)-c, adbSNP:138472027
5305..5306+, gggcaagaaggagacgttggtggaagataaactcagtcttctgaatdbSNP:398123972
5311+c, tdbSNP:1801185
complement(5315)-t, cdbSNP:373475585
5330..5338+cgagcagaa, tdbSNP:398123974
5330+c, tdbSNP:398123973
complement(5333)-t, cdbSNP:374838013
complement(5350)-t, adbSNP:16990264
5356+c, gdbSNP:398123975
5374+dbSNP:
5374+c, tdbSNP:72468632
complement(5382)-g, cdbSNP:146420425
5386+, tdbSNP:398123977
complement(5408)-t, cdbSNP:367674503
complement(5410)-t, cdbSNP:145181319
5431..5432+atgaatgaattcatt, cadbSNP:398123978
complement(5443)-g, adbSNP:141086798
5458..5461+, gaaadbSNP:398123979
5468+c, tdbSNP:398123980
complement(5478)-t, cdbSNP:151109270
5497+dbSNP:
5497+c, gdbSNP:72468630
complement(5511)-t, cdbSNP:372917491
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(5564)-t, cdbSNP:376234802
complement(5568)-g, adbSNP:1801187
complement(5589)-g, adbSNP:373428963
complement(5599)-g, adbSNP:145515413
complement(5604)-g, adbSNP:201516290
5621+c, tdbSNP:398123981
5622+g, tdbSNP:398123982
5647..5648+, tdbSNP:398123987
complement(5671)-dbSNP:
complement(5671)-g, adbSNP:201321189
5687+c, tdbSNP:398123990
complement(5697)-g, adbSNP:199774535
complement(5717)-g, cdbSNP:79541196
complement(5752)-g, adbSNP:149543306
5793+dbSNP:
5793+a, gdbSNP:1800271
complement(5810)-g, cdbSNP:140913030
complement(5821)-t, cdbSNP:150787752
complement(5823)-c, adbSNP:369055628
complement(5859)-g, cdbSNP:376011686
5864+a, c, tdbSNP:1064325
5866+a, cdbSNP:1801186
complement(5874)-g, adbSNP:371728045
complement(5878)-c, adbSNP:369623931
complement(5882)-t, cdbSNP:141261536
5885+c, tdbSNP:128625228
5888+c, tdbSNP:398123991
complement(5896)-t, cdbSNP:377151540
complement(5901)-t, gdbSNP:148246460
5905..5906+, aadbSNP:398123992
complement(5911)-g, adbSNP:372707022
complement(5933)-dbSNP:
complement(5933)-g, cdbSNP:144718274
complement(5949)-t, gdbSNP:200246327
complement(5954)-t, cdbSNP:142441725
5974+a, tdbSNP:398123993
5992+c, tdbSNP:398123994
6005+a, tdbSNP:398123995
complement(6009)-t, cdbSNP:137898199
complement(6011)-g, adbSNP:186237022
complement(6018)-t, adbSNP:376202643
complement(6034)-t, cdbSNP:374387166
complement(6035)-t, cdbSNP:201302282
complement(6041)-g, cdbSNP:370969622
complement(6057)-t, adbSNP:145266970
complement(6058)-g, adbSNP:143159113
complement(6069)-g, adbSNP:376375532
complement(6086)-dbSNP:
complement(6086)-t, cdbSNP:199560875
6107+g, tdbSNP:398123997
6109+a, gdbSNP:1800272
6141+a, tdbSNP:398123998
complement(6161)-t, cdbSNP:181849614
complement(6197)-g, adbSNP:377039314
complement(6198)-t, cdbSNP:200455300
complement(6204)-t, cdbSNP:372482766
6233+c, tdbSNP:128626249
complement(6267)-dbSNP:
complement(6267)-t, c, adbSNP:148135406
6272+g, tdbSNP:398124001
complement(6276)-g, adbSNP:140575687
complement(6318)-t, adbSNP:147927593
6319+g, tdbSNP:128627257
6334+a, tdbSNP:398124002
6348..6351+, ctcadbSNP:398124003
6362+g, tdbSNP:72468613
complement(6383)-t, gdbSNP:201532491
complement(6386)-t, gdbSNP:367702968
complement(6406)-t, g, adbSNP:373804251
complement(6435)-t, g, adbSNP:144754029
complement(6439)-c, adbSNP:331312
complement(6477)-dbSNP:
complement(6477)-t, cdbSNP:200494003
complement(6485)-g, adbSNP:140791274
complement(6497)-t, adbSNP:374067703
6516+, cdbSNP:398124005
6529+c, tdbSNP:398124006
complement(6550)-t, cdbSNP:147685667
6560+g, tdbSNP:398124007
6617+c, tdbSNP:398124008
complement(6618)-c, adbSNP:370638522
6626+c, tdbSNP:128626250
complement(6654)-t, cdbSNP:142807436
complement(6656)-g, adbSNP:16990169
6674+a, tdbSNP:398124011
6707+c, tdbSNP:128626251
6725..6726+, cadbSNP:398124012
6726..6727+, cadbSNP:398124013
complement(6797)-dbSNP:
complement(6797)-t, cdbSNP:1800273
complement(6805)-t, adbSNP:377080659
complement(6843)-t, adbSNP:200981845
complement(6905)-g, adbSNP:149322279
complement(6957)-dbSNP:
complement(6957)-t, cdbSNP:139937177
complement(7060)-t, cdbSNP:145993057
complement(7066)-g, cdbSNP:142531761
complement(7094)-t, gdbSNP:201818335
complement(7121)-dbSNP:
complement(7121)-g, adbSNP:200045725
7124+c, tdbSNP:128626252
7162+c, tdbSNP:72466595
7168+, tdbSNP:398124035
complement(7186)-t, gdbSNP:150312394
complement(7234)-g, adbSNP:200493074
7240+a, gdbSNP:398124036
complement(7246)-c, adbSNP:201598139
7270+dbSNP:
7270+, adbSNP:398124037
7277+g, tdbSNP:398124038
7289+c, tdbSNP:128625230
7298+, gdbSNP:398124039
7320..7321+, adbSNP:398124040
7350+a, gdbSNP:398124041
complement(7385)-g, adbSNP:367747168
complement(7386)-c, adbSNP:374862112
7414+a, gdbSNP:1800274
complement(7419)-t, gdbSNP:141151675
complement(7430)-c, adbSNP:1800275
complement(7464)-dbSNP:
complement(7464)-g, adbSNP:201262489
complement(7485)-t, gdbSNP:185706283
complement(7513)-t, gdbSNP:202090289
complement(7517)-g, adbSNP:72466590
7523+c, tdbSNP:398124042
7563+dbSNP:
7563+a, gdbSNP:398124043
complement(7570)-g, cdbSNP:149003002
complement(7571)-t, cdbSNP:373604575
complement(7577)-g, adbSNP:139395045
complement(7578)-t, cdbSNP:373749120
complement(7622)-g, cdbSNP:200078222
complement(7655)-dbSNP:
complement(7655)-t, gdbSNP:146817002
complement(7657)-g, adbSNP:201919981
complement(7679)-g, cdbSNP:372593779
complement(7704)-g, adbSNP:182761135
7736+g, tdbSNP:128626253
complement(7788)-c, adbSNP:142500746
complement(7806)-t, cdbSNP:147694734
complement(7810)-g, adbSNP:142153424
complement(7855)-g, adbSNP:112516305
complement(7878)-dbSNP:
complement(7878)-t, gdbSNP:373728963
7886+, cdbSNP:398124049
complement(7905)-t, cdbSNP:151244052
complement(7912)-t, cdbSNP:142236825
complement(7931)-t, cdbSNP:369583884
complement(7987)-t, cdbSNP:368803197
7991+c, tdbSNP:398124050
8006+dbSNP:
8006+c, tdbSNP:398124051
8016+a, gdbSNP:398124052
8017+a, gdbSNP:398124053
complement(8046)-t, cdbSNP:371588290
complement(8050)-t, cdbSNP:200571671
complement(8056)-g, cdbSNP:368164231
complement(8062)-t, cdbSNP:1801188
8098..8099+, tdbSNP:398124054
8105+g, tdbSNP:398124055
8152+a, gdbSNP:398124056
8154+a, tdbSNP:72466581
8188+, gdbSNP:398124057
8228+c, tdbSNP:398124058
complement(8251)-t, cdbSNP:368521550
complement(8253)-g, cdbSNP:146020545
8256+, adbSNP:398124059
complement(8257)-g, adbSNP:200170279
complement(8296)-t, adbSNP:374433647
complement(8322)-g, cdbSNP:144103124
complement(8334)-t, cdbSNP:371437381
complement(8345)-t, cdbSNP:139254609
8389+dbSNP:
8389+a, gdbSNP:1801189
8398..8399+, tadbSNP:398124060
8403+g, tdbSNP:398124061
complement(8410)-t, cdbSNP:144518527
8420+, cdbSNP:398124062
complement(8492)-g, adbSNP:375657730
complement(8546)-g, adbSNP:372600090
complement(8568)-g, adbSNP:367735348
complement(8579)-t, cdbSNP:149268097
complement(8589)-t, cdbSNP:373832446
complement(8604)-t, cdbSNP:201996040
complement(8642)-t, cdbSNP:138399787
complement(8646)-t, gdbSNP:376720228
8656+a, g, tdbSNP:72466575
complement(8666)-g, adbSNP:368974772
complement(8677)-g, cdbSNP:200729967
8692+a, gdbSNP:398124068
8702+c, tdbSNP:398124069
8708..8709+, aadbSNP:398124070
8733+dbSNP:
8733+c, tdbSNP:398124071
complement(8751)-t, cdbSNP:183999778
complement(8759)-g, adbSNP:143389016
complement(8770)-g, adbSNP:139365076
8777+c, tdbSNP:398124072
complement(8785..8786)-, cdbSNP:35527662
8798+c, tdbSNP:398124073
8830+a, cdbSNP:72466574
complement(8842)-g, adbSNP:374374549
complement(8877)-t, cdbSNP:146890210
complement(8884)-dbSNP:
complement(8884)-g, adbSNP:376376746
complement(8905)-t, cdbSNP:72466570
8913+a, cdbSNP:72466569
complement(8916)-g, adbSNP:181284440
8942+c, tdbSNP:398124074
complement(8943)-g, cdbSNP:373481995
complement(8985)-g, adbSNP:368876795
8986..8987+, ctdbSNP:398124075
complement(8990)-g, cdbSNP:201361100
complement(8994)-t, cdbSNP:112944659
9002+a, gdbSNP:398124076
9047+dbSNP:
9047+c, tdbSNP:128627256
complement(9048)-t, cdbSNP:267606433
complement(9052)-t, cdbSNP:377178242
complement(9063)-t, adbSNP:41305353
complement(9068)-t, cdbSNP:386545568
complement(9075)-t, adbSNP:148950131
complement(9076)-t, cdbSNP:372795781
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(9199)-t, cdbSNP:374478841
complement(9202)-g, cdbSNP:201123444
complement(9219)-g, adbSNP:151087470
complement(9220)-g, adbSNP:371648038
complement(9224)-c, adbSNP:368114420
9227+a, gdbSNP:398124077
9246..9247+, tcdbSNP:398124078
complement(9259)-g, adbSNP:374063420
complement(9260)-t, cdbSNP:142128738
9278+dbSNP:
9278+c, tdbSNP:128625229
complement(9308)-t, cdbSNP:201691420
complement(9317)-t, cdbSNP:148643665
complement(9366)-g, adbSNP:143925896
complement(9381)-g, cdbSNP:368098624
complement(9425)-dbSNP:
complement(9425)-t, cdbSNP:143426249
complement(9427)-t, cdbSNP:72466563
9428+a, gdbSNP:72466562
9459+, adbSNP:398124080
9492..9495+, tttcdbSNP:398124081
9498+dbSNP:
9498+c, tdbSNP:398124083
complement(9499)-t, cdbSNP:137905486
9531+a, cdbSNP:128626254
complement(9544)-t, cdbSNP:147336953
complement(9637)-dbSNP:
complement(9637)-g, adbSNP:368744016
complement(9659)-c, adbSNP:201718067
9671+c, tdbSNP:398124092
9680+c, tdbSNP:398124093
complement(9686)-t, c, adbSNP:200928985
complement(9725)-dbSNP:
complement(9725)-t, cdbSNP:150462744
complement(9729)-t, gdbSNP:200592992
complement(9745)-t, gdbSNP:200715944
complement(9800)-t, cdbSNP:190177232
complement(9820)-t, cdbSNP:370724251
complement(9838)-g, cdbSNP:185247491
complement(9869)-g, adbSNP:377405269
9902+dbSNP:
9902+c, tdbSNP:104894797
complement(9914)-t, gdbSNP:181517869
complement(9933)-t, adbSNP:377632571
complement(10000)-dbSNP:
complement(10000)-t, cdbSNP:376647510
complement(10004)-t, cdbSNP:141504670
complement(10016)-g, adbSNP:141392048
10020+g, tdbSNP:398124101
complement(10028)-t, g, adbSNP:145030353
10049+c, tdbSNP:398124102
10101..10102+, gdbSNP:398124103
complement(10117)-t, adbSNP:370376421
complement(10124)-g, adbSNP:373448002
complement(10138)-t, cdbSNP:12690372
10185+dbSNP:
10185+a, gdbSNP:398124104
10188..10197+, tgagactggadbSNP:398124105
10196+g, tdbSNP:398124106
complement(10222)-g, adbSNP:146543659
10230+a, gdbSNP:398124107
10260+a, gdbSNP:398124108
10262+c, tdbSNP:104894789
10308+a, gdbSNP:398124109
complement(10321)-dbSNP:
complement(10321)-t, cdbSNP:145595228
10353+a, gdbSNP:104894788
10367+c, tdbSNP:398123827
complement(10420)-g, cdbSNP:201288384
10442+dbSNP:
10442+c, tdbSNP:104894787
10475+c, tdbSNP:104894790
complement(10494)-g, adbSNP:202219782
complement(10498)-g, cdbSNP:372978469
10501+, tdbSNP:398123831
10505+c, tdbSNP:398123832
10526+c, tdbSNP:398123833
complement(10537)-t, cdbSNP:371928525
complement(10546)-g, cdbSNP:367657320
complement(10581)-dbSNP:
complement(10581)-t, cdbSNP:201217593
complement(10582)-g, cdbSNP:376745644
complement(10583)-g, cdbSNP:373898385
10592..10593+, tdbSNP:398123835
10593+c, tdbSNP:398123836
10596+c, tdbSNP:104894791
complement(10641)-dbSNP:
complement(10641)-t, cdbSNP:372442975
complement(10762)-dbSNP:
complement(10762)-g, adbSNP:190867451
complement(10774)-g, cdbSNP:372682676
complement(10776)-t, cdbSNP:368594777
10780..10781+, ctdbSNP:398123837
10787..10788+, ctdbSNP:398123838
10788+, tdbSNP:398123839
complement(10911)-dbSNP:
complement(10911)-t, cdbSNP:139547504
10936..10937+, adbSNP:398123842
complement(10943)-t, adbSNP:150957972
complement(10944)-t, gdbSNP:145123497
10947+c, gdbSNP:398123843
complement(10949)-g, cdbSNP:367748290
10954+a, gdbSNP:72466538
10959+, cdbSNP:398123844
complement(10977)-g, adbSNP:139492098
complement(10995)-t, cdbSNP:199974153
complement(11017)-c, adbSNP:374369906
complement(11059)-t, cdbSNP:147346696
11108+, adbSNP:398123845
complement(11123)-t, cdbSNP:1800281
complement(11164)-dbSNP:
complement(11164)-t, cdbSNP:113604000
complement(11170)-g, adbSNP:148590546
complement(11180)-t, cdbSNP:368996545
11197+c, tdbSNP:398123847
complement(11244)-g, adbSNP:200166885
complement(11325)-dbSNP:
complement(11325)-t, cdbSNP:144819143
complement(11338)-t, adbSNP:184211223
complement(11352)-dbSNP:
complement(11352)-t, cdbSNP:386545473
complement(11352)-g, adbSNP:1795743
11356+g, tdbSNP:398123849
complement(11366)-t, cdbSNP:377013131
complement(11407)-dbSNP:
complement(11407)-t, cdbSNP:149405184
complement(11416)-t, cdbSNP:372284841
complement(11430)-t, cdbSNP:16989352
complement(11431)-t, adbSNP:371730838
complement(11487)-g, adbSNP:369622987
complement(11490)-g, cdbSNP:377175004
complement(11523)-g, adbSNP:404401
complement(11524)-t, gdbSNP:75075462
complement(11528)-g, cdbSNP:372759340
complement(11567)-t, gdbSNP:418795
complement(11597)-t, cdbSNP:5927686
complement(11661)-t, gdbSNP:418560
complement(11860..11869)-, atgtgtgtgtdbSNP:59588979
complement(11865)-g, adbSNP:112111580
complement(11868..11869)-, atgtdbSNP:386416845
complement(11869..11882)-, tgtgtgtgtgtgtadbSNP:199552087
complement(11869..11878)-, tgtgtgtgtadbSNP:200467976
complement(11871..11872)-, tgtadbSNP:35017372
complement(11872..11873)-, tacadbSNP:3833413
complement(11873)-g, adbSNP:112509940
complement(11881)-g, adbSNP:45549534
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(12342..12343)-, ttdbSNP:60841052
complement(12345..12346)-, ttdbSNP:200963373
complement(12347..12348)-, tacttdbSNP:368966903
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:397977802
complement(12423)-t, cdbSNP:112666076
complement(12427)-t, cdbSNP:112754560
complement(12437)-, adbSNP:202075326
complement(12440..12441)-, atc, aatcdbSNP:71860126
complement(12441..12444)-, atcadbSNP:200641250
complement(12443..12444)-, atca, tcaadbSNP:59846267
complement(12444..12445)-, atcadbSNP:111646375
complement(12574)-g, adbSNP:187318961
complement(12580..12581)-, atcadbSNP:200311985
complement(12622)-g, cdbSNP:145871126
complement(12677)-t, gdbSNP:142110702
complement(12793)-t, gdbSNP:182383454
complement(12839)-t, cdbSNP:386581862
complement(12839)-g, adbSNP:3361
complement(12847)-t, gdbSNP:191747923
complement(12944..12945)-, ttacdbSNP:372204167
complement(12957..12958)-, cttadbSNP:202212782
complement(13030)-t, cdbSNP:142520583
complement(13046)-g, cdbSNP:148472346
complement(13053..13054)-, tdbSNP:373359794
complement(13097)-t, cdbSNP:145632098
13123+a, cdbSNP:3198427
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(13547..13548)-, aaggtccagcgtcacatdbSNP:200762890
complement(13552..13553)-, aaagadbSNP:369593541
complement(13574..13575)-, tgagdbSNP:375086194
13577+a, tdbSNP:11550191
complement(13628..13629)-, actt, cttadbSNP:199643329
complement(13629..13630)-, acttdbSNP:202154420
complement(13655..13656)-, tctatdbSNP:369375730
complement(13734)-g, adbSNP:181280702
13819+a, gdbSNP:1057915
complement(13819)-g, adbSNP:386514452
complement(13955)-t, cdbSNP:188558013
Gene SymbolDMD
Gene SynonymBMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
ChromosomeX
Locus MapXp21.2
Title A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy .
Author de Brouwer AP, Nabuurs SB, Verhaart IE, Oudakker AR, Hordijk R, Yntema HG, Hordijk-Hos JM, Voesenek K, de Vries BB, van Essen T, Chen W, Hu H, Chelly J, den Dunnen JT, Kalscheuer VM, Aartsma-Rus AM, Hamel BC, van Bokhoven H and Kleefstra T.
Journal Eur. J. Hum. Genet. 22 (4), 480-485 (2014)
Title Molecular clues about the dystrophin-neuronal nitric oxide synthase interaction: a theoretical approach .
Author Giudice E, Molza AE, Laurin Y, Nicolas A, Le Rumeur E and Delalande O.
Journal Biochemistry 52 (44), 7777-7784 (2013)
Title 194th ENMC international workshop. 3rd ENMC workshop on exon skipping: towards clinical application of antisense-mediated exon skipping for Duchenne muscular dystrophy 8-10 December 2012, Naarden, The Netherlands .
Author Aartsma-Rus A and Muntoni F.
Journal Neuromuscul. Disord. 23 (11), 934-944 (2013)
Title Ordered disorder of the astrocytic dystrophin-associated protein complex in the norm and pathology .
Author Na I, Redmon D, Kopa M, Qin Y, Xue B and Uversky VN.
Journal PLoS ONE 8 (8), E73476 (2013)
Title Dystrophinopathies .
Author Darras,B.T., Miller,D.T. and Urion,D.K.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Detection of a nonsense mutation in the dystrophin gene by multiple .
Author Nigro V, Politano L, Nigro G, Romano SC, Molinari AM and Puca GA.
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 DC, Monaco AP, Derry JM, Walker AP, Barnard EA and Barnard PJ.
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 JT, Grootscholten PM, Van Ommen GJ, 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 AP and Kunkel LM.
Journal Cell 53 (2), 219-228 (1988)

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