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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu23165 Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. pcDNA3.1+-DYK On-demand TBD TBD
OHu23165C Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. Customized vector On-demand TBD TBD

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Mutation services

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_001035.2, 112799846
Length 14904 bp
Structure linear
Update Date 10-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.
Product ryanodine receptor 2
Comment

Summary: This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008].


Sequence Note: The RefSeq transcript and protein were derived from genomic sequence 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_001026.2
CDS 121..15024
Misc Feature(1)145..777
Misc Feature(2)145..777
Misc Feature(3)796..1317
Misc Feature(4)976..1248
Misc Feature(5)1471..2085
Misc Feature(6)2080..2535
Misc Feature(7)2677..8895
Misc Feature(8)2701..2985
Misc Feature(9)3043..3327
Misc Feature(10)3376..3774
Misc Feature(11)4354..4794
Misc Feature(12)6487..7116
Misc Feature(13)8218..8502
Misc Feature(14)8542..8544
Misc Feature(15)8542..8544
Misc Feature(16)8560..8562
Misc Feature(17)8578..8844
Misc Feature(18)10861..10950
Misc Feature(19)11596..11964
Misc Feature(20)11983..12132
Misc Feature(21)12208..12375
Misc Feature(22)12217..12381
Misc Feature(23)order(12226..12228,12232..12234,12238..12240,12259..12261,
Misc Feature(24)12964..13026
Misc Feature(25)13117..13917
Misc Feature(26)13630..13692
Misc Feature(27)13858..13920
Misc Feature(28)14254..14610
Misc Feature(29)14308..14370
Misc Feature(30)14425..14487
Misc Feature(31)14668..14730
Exon (1)1..168
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (2)169..288
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (3)289..393
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (4)394..414
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (5)415..429
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (6)430..504
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (7)505..583
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (8)584..696
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (9)697..796
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (10)797..893
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (11)894..968
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (12)969..1125
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (13)1126..1290
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (14)1291..1412
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (15)1413..1596
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (16)1597..1732
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (17)1733..1828
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (18)1829..1947
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (19)1948..2081
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (20)2082..2323
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (21)2324..2516
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (22)2517..2733
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (23)2734..2838
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (24)2839..2942
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (25)2943..3026
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (26)3027..3186
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (27)3187..3334
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (28)3335..3543
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (29)3544..3718
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (30)3719..3927
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (31)3928..4280
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (32)4281..4395
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (33)4396..4556
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (34)4557..4716
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (35)4717..4803
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (36)4804..5030
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (37)5031..5835
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (38)5836..6036
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (39)6037..6142
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (40)6143..6286
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (41)6287..6560
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (42)6561..6675
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (43)6676..6808
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (44)6809..6912
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (45)6913..7048
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (46)7049..7235
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (47)7236..7341
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (48)7342..7462
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (49)7463..7632
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (50)7633..7853
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (51)7854..7944
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (52)7945..8085
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (53)8086..8249
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (54)8250..8328
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (55)8329..8418
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (56)8419..8556
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (57)8557..8634
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (58)8635..8710
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (59)8711..8834
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (60)8835..8950
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (61)8951..9015
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (62)9016..9137
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (63)9138..9187
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (64)9188..9248
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (65)9249..9487
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (66)9488..9569
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (67)9570..9700
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (68)9701..10021
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (69)10022..10262
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (70)10263..10350
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (71)10351..10443
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (72)10444..10614
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (73)10615..10674
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (74)10675..10809
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (75)10810..10845
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (76)10846..10958
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (77)10959..11055
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (78)11056..11159
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (79)11160..11211
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (80)11212..11265
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (81)11266..11365
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (82)11366..11445
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (83)11446..11522
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (84)11523..11596
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (85)11597..11677
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (86)11678..11766
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (87)11767..11895
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (88)11896..12000
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (89)12001..12082
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (90)12083..13380
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (91)13381..13448
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (92)13449..13596
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (93)13597..13683
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (94)13684..13902
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (95)13903..14033
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (96)14034..14076
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (97)14077..14210
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (98)14211..14271
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (99)14272..14418
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (100)14419..14553
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (101)14554..14710
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (102)14711..14775
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (103)14776..14876
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (104)14877..14928
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Exon (105)14929..16365
Gene:RYR2
Gene Synonym:ARVC2; ARVD2; RyR; RYR-2; VTSIP
Translation MADGGEGEDEIQFLRTDDEVVLQCTATIHKEQQKLCLAAEGFGNRLCFLESTSNSKNVPP DLSICTFVLEQSLSVRALQEMLANTVEKSEGQVDVEKWKFMMKTAQGGGHRTLLYGHAIL LRHSYSGMYLCCLSTSRSSTDKLAFDVGLQEDTTGEACWWTIHPASKQRSEGEKVRVGDD LILVSVSSERYLHLSYGNGSLHVDAAFQQTLWSVAPISSGSEAAQGYLIGGDVLRLLHGH MDECLTVPSGEHGEEQRRTVHYEGGAVSVHARSLWRLETLRVAWSGSHIRWGQPFRLRHV TTGKYLSLMEDKNLLLMDKEKADVKSTAFTFRSSKEKLDVGVRKEVDGMGTSEIKYGDSV CYIQHVDTGLWLTYQSVDVKSVRMGSIQRKAIMHHEGHMDDGISLSRSQHEESRTARVIR STVFLFNRFIRGLDALSKKAKASTVDLPIESVSLSLQDLIGYFHPPDEHLEHEDKQNRLR ALKNRQNLFQEEGMINLVLECIDRLHVYSSAAHFADVAGREAGESWKSILNSLYELLAAL IRGNRKNCAQFSGSLDWLISRLERLEASSGILEVLHCVLVESPEALNIIKEGHIKSIISL LDKHGRNHKVLDVLCSLCVCHGVAVRSNQHLICDNLLPGRDLLLQTRLVNHVSSMRPNIF LGVSEGSAQYKKWYYELMVDHTEPFVTAEATHLRVGWASTEGYSPYPGGGEEWGGNGVGD DLFSYGFDGLHLWSGCIARTVSSPNQHLLRTDDVISCCLDLSAPSISFRINGQPVQGMFE NFNIDGLFFPVVSFSAGIKVRFLLGGRHGEFKFLPPPGYAPCYEAVLPKEKLKVEHSREY KQERTYTRDLLGPTVSLTQAAFTPIPVDTSQIVLPPHLERIREKLAENIHELWVMNKIEL GWQYGPVRDDNKRQHPCLVEFSKLPEQERNYNLQMSLETLKTLLALGCHVGISDEHAEDK VKKMKLPKNYQLTSGYKPAPMDLSFIKLTPSQEAMVDKLAENAHNVWARDRIRQGWTYGI QQDVKNRRNPRLVPYTLLDDRTKKSNKDSLREAVRTLLGYGYNLEAPDQDHAARAEVCSG TGERFRIFRAEKTYAVKAGRWYFEFETVTAGDMRVGWSRPGCQPDQELGSDERAFAFDGF KAQRWHQGNEHYGRSWQAGDVVGCMVDMNEHTMMFTLNGEILLDDSGSELAFKDFDVGDG FIPVCSLGVAQVGRMNFGKDVSTLKYFTICGLQEGYEPFAVNTNRDITMWLSKRLPQFLQ VPSNHEHIEVTRIDGTIDSSPCLKVTQKSFGSQNSNTDIMFYRLSMPIECAEVFSKTVAG GLPGAGLFGPKNDLEDYDADSDFEVLMKTAHGHLVPDRVDKDKEATKPEFNNHKDYAQEK PSRLKQRFLLRRTKPDYSTSHSARLTEDVLADDRDDYDFLMQTSTYYYSVRIFPGQEPAN VWVGWITSDFHQYDTGFDLDRVRTVTVTLGDEKGKVHESIKRSNCYMVCAGESMSPGQGR NNNGLEIGCVVDAASGLLTFIANGKELSTYYQVEPSTKLFPAVFAQATSPNVFQFELGRI KNVMPLSAGLFKSEHKNPVPQCPPRLHVQFLSHVLWSRMPNQFLKVDVSRISERQGWLVQ CLDPLQFMSLHIPEENRSVDILELTEQEELLKFHYHTLRLYSAVCALGNHRVAHALCSHV DEPQLLYAIENKYMPGLLRAGYYDLLIDIHLSSYATARLMMNNEYIVPMTEETKSITLFP DENKKHGLPGIGLSTSLRPRMQFSSPSFVSISNECYQYSPEFPLDILKSKTIQMLTEAVK EGSLHARDPVGGTTEFLFVPLIKLFYTLLIMGIFHNEDLKHILQLIEPSVFKEAATPEEE SDTLEKELSVDDAKLQGAGEEEAKGGKRPKEGLLQMKLPEPVKLQMCLLLQYLCDCQVRH RIEAIVAFSDDFVAKLQDNQRFRYNEVMQALNMSAALTARKTKEFRSPPQEQINMLLNFK DDKSECPCPEEIRDQLLDFHEDLMTHCGIELDEDGSLDGNSDLTIRGRLLSLVEKVTYLK KKQAEKPVESDSKKSSTLQQLISETMVRWAQESVIEDPELVRAMFVLLHRQYDGIGGLVR ALPKTYTINGVSVEDTINLLASLGQIRSLLSVRMGKEEEKLMIRGLGDIMNNKVFYQHPN LMRALGMHETVMEVMVNVLGGGESKEITFPKMVANCCRFLCYFCRISRQNQKAMFDHLSY LLENSSVGLASPAMRGSTPLDVAAASVMDNNELALALREPDLEKVVRYLAGCGLQSCQML VSKGYPDIGWNPVEGERYLDFLRFAVFCNGESVEENANVVVRLLIRRPECFGPALRGEGG NGLLAAMEEAIKIAEDPSRDGPSPNSGSSKTLDTEEEEDDTIHMGNAIMTFYSALIDLLG RCAPEMHLIHAGKGEAIRIRSILRSLIPLGDLVGVISIAFQMPTIAKDGNVVEPDMSAGF CPDHKAAMVLFLDRVYGIEVQDFLLHLLEVGFLPDLRAAASLDTAALSATDMALALNRYL CTAVLPLLTRCAPLFAGTEHHASLIDSLLHTVYRLSKGCSLTKAQRDSIEVCLLSICGQL RPSMMQHLLRRLVFDVPLLNEHAKMPLKLLTNHYERCWKYYCLPGGWGNFGAASEEELHL SRKLFWGIFDALSQKKYEQELFKLALPCLSAVAGALPPDYMESNYVSMMEKQSSMDSEGN FNPQPVDTSNITIPEKLEYFINKYAEHSHDKWSMDKLANGWIYGEIYSDSSKVQPLMKPY KLLSEKEKEIYRWPIKESLKTMLAWGWRIERTREGDSMALYNRTRRISQTSQVSVDAAHG YSPRAIDMSNVTLSRDLHAMAEMMAENYHNIWAKKKKMELESKGGGNHPLLVPYDTLTAK EKAKDREKAQDILKFLQINGYAVSRGFKDLELDTPSIEKRFAYSFLQQLIRYVDEAHQYI LEFDGGSRGKGEHFPYEQEIKFFAKVVLPLIDQYFKNHRLYFLSAASRPLCSGGHASNKE KEMVTSLFCKLGVLVRHRISLFGNDATSIVNCLHILGQTLDARTVMKTGLESVKSALRAF LDNAAEDLEKTMENLKQGQFTHTRNQPKGVTQIINYTTVALLPMLSSLFEHIGQHQFGED LILEDVQVSCYRILTSLYALGTSKSIYVERQRSALGECLAAFAGAFPVAFLETHLDKHNI YSIYNTKSSRERAALSLPTNVEDVCPNIPSLEKLMEEIVELAESGIRYTQMPHVMEVILP MLCSYMSRWWEHGPENNPERAEMCCTALNSEHMNTLLGNILKIIYNNLGIDEGAWMKRLA VFSQPIINKVKPQLLKTHFLPLMEKLKKKAATVVSEEDHLKAEARGDMSEAELLILDEFT TLARDLYAFYPLLIRFVDYNRAKWLKEPNPEAEELFRMVAEVFIYWSKSHNFKREEQNFV VQNEINNMSFLITDTKSKMSKAAVSDQERKKMKRKGDRYSMQTSLIVAALKRLLPIGLNI CAPGDQELIALAKNRFSLKDTEDEVRDIIRSNIHLQGKLEDPAIRWQMALYKDLPNRTDD TSDPEKTVERVLDIANVLFHLEQKSKRVGRRHYCLVEHPQRSKKAVWHKLLSKQRKRAVV ACFRMAPLYNLPRHRAVNLFLQGYEKSWIETEEHYFEDKLIEDLAKPGAEPPEEDEGTKR VDPLHQLILLFSRTALTEKCKLEEDFLYMAYADIMAKSCHDEEDDDGEEEVKSFEEKEME KQKLLYQQARLHDRGAAEMVLQTISASKGETGPMVAATLKLGIAILNGGNSTVQQKMLDY LKEKKDVGFFQSLAGLMQSCSVLDLNAFERQNKAEGLGMVTEEGSGEKVLQDDEFTCDLF RFLQLLCEGHNSDFQNYLRTQTGNNTTVNIIISTVDYLLRVQESISDFYWYYSGKDVIDE QGQRNFSKAIQVAKQVFNTLTEYIQGPCTGNQQSLAHSRLWDAVVGFLHVFAHMQMKLSQ DSSQIELLKELMDLQKDMVVMLLSMLEGNVVNGTIGKQMVDMLVESSNNVEMILKFFDMF LKLKDLTSSDTFKEYDPDGKGVISKRDFHKAMESHKHYTQSETEFLLSCAETDENETLDY EEFVKRFHEPAKDIGFNVAVLLTNLSEHMPNDTRLQTFLELAESVLNYFQPFLGRIEIMG SAKRIERVYFEISESSRTQWEKPQVKESKRQFIFDVVNEGGEKEKMELFVNFCEDTIFEM QLAAQISESDLNERSANKEESEKERPEEQGPRMAFFSILTVRSALFALRYNILTLMRMLS LKSLKKQMKKVKKMTVKDMVTAFFSSYWSIFMTLLHFVASVFRGFFRIICSLLLGGSLVE GAKKIKVAELLANMPDPTQDEVRGDGEEGERKPLEAALPSEDLTDLKELTEESDLLSDIF GLDLKREGGQYKLIPHNPNAGLSDLMSNPVPMPEVQEKFQEQKAKEEEKEEKEETKSEPE KAEGEDGEKEEKAKEDKGKQKLRQLHTHRYGEPEVPESAFWKKIIAYQQKLLNYFARNFY NMRMLALFVAFAINFILLFYKVSTSSVVEGKELPTRSSSENAKVTSLDSSSHRIIAVHYV LEESSGYMEPTLRILAILHTVISFFCIIGYYCLKVPLVIFKREKEVARKLEFDGLYITEQ PSEDDIKGQWDRLVINTQSFPNNYWDKFVKRKVMDKYGEFYGRDRISELLGMDKAALDFS DAREKKKPKKDSSLSAVLNSIDVKYQMWKLGVVFTDNSFLYLAWYMTMSVLGHYNNFFFA AHLLDIAMGFKTLRTILSSVTHNGKQLVLTVGLLAVVVYLYTVVAFNFFRKFYNKSEDGD TPDMKCDDMLTCYMFHMYVGVRAGGGIGDEIEDPAGDEYEIYRIIFDITFFFFVIVILLA IIQGLIIDAFGELRDQQEQVKEDMETKCFICGIGNDYFDTVPHGFETHTLQEHNLANYLF FLMYLINKDETEHTGQESYVWKMYQERCWEFFPAGDCFRKQYEDQLN
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Position Chain Variation Link
169+dbSNP:
169+a, gdbSNP:370488091
171+c, tdbSNP:373674802
196+a, gdbSNP:368974917
239+a, gdbSNP:371127731
256+a, cdbSNP:200643211
315+dbSNP:
315+c, tdbSNP:372132157
351+a, gdbSNP:376225470
355+a, cdbSNP:368014180
384+a, gdbSNP:148850606
465+dbSNP:
465+c, tdbSNP:397516525
484+c, tdbSNP:397516527
495+c, tdbSNP:397516528
626+dbSNP:
626+a, gdbSNP:397516539
675+c, tdbSNP:369484232
676+a, gdbSNP:201211033
690+g, tdbSNP:397516544
735+dbSNP:
735+c, tdbSNP:112680790
749+c, tdbSNP:371086868
759+c, tdbSNP:375180398
769+a, gdbSNP:200642525
804+dbSNP:
804+c, tdbSNP:72549417
805+a, gdbSNP:368653489
825+a, gdbSNP:200318226
834+c, tdbSNP:376541511
839+a, gdbSNP:369512347
846+c, tdbSNP:76380341
869+g, tdbSNP:376925177
915+dbSNP:
915+c, tdbSNP:189449390
916+a, gdbSNP:373326624
935+g, tdbSNP:377368967
948+a, gdbSNP:180711819
991+dbSNP:
991+g, tdbSNP:80303323
1013..1014+, cdbSNP:35041432
1070+c, tdbSNP:367601258
1102+a, gdbSNP:201669522
1118+c, tdbSNP:397516552
1144+dbSNP:
1144+a, gdbSNP:371898166
1173+a, gdbSNP:187565743
1183+a, gdbSNP:267598432
1230+a, gdbSNP:150705689
1239+c, tdbSNP:202231354
1254+c, tdbSNP:193922621
1255+a, gdbSNP:199693714
1263+c, tdbSNP:368844286
1264+a, gdbSNP:370057029
1274+a, gdbSNP:373148638
1283+a, gdbSNP:397516506
1285+c, tdbSNP:376135032
1286+a, gdbSNP:200685968
1292+dbSNP:
1292+c, gdbSNP:374306538
1299+g, tdbSNP:80313920
complement(1327)-g, adbSNP:142797573
1338+a, gdbSNP:147389346
1361+a, gdbSNP:371121679
1378+c, tdbSNP:190140598
1401+c, tdbSNP:375691875
1416+dbSNP:
1416+a, cdbSNP:184176405
1418+c, tdbSNP:121918602
1438+a, gdbSNP:371878264
1452+a, gdbSNP:375837517
1462+c, gdbSNP:369933531
1466+g, tdbSNP:373331669
1474+a, gdbSNP:375218751
1479+c, tdbSNP:3765097
1515+c, gdbSNP:111990043
1516+c, gdbSNP:376612295
1564+c, tdbSNP:117903753
1566+a, gdbSNP:397516517
1630+dbSNP:
1630+c, tdbSNP:373502556
1631+a, gdbSNP:201600087
1638+c, tdbSNP:372620246
1639+a, gdbSNP:16835270
1668+c, tdbSNP:146129084
1720+c, tdbSNP:376007579
1731+a, gdbSNP:78281932
1782+dbSNP:
1782+c, tdbSNP:267598433
1785+c, tdbSNP:371262363
1896+dbSNP:
1896+a, tdbSNP:72549414
1957+dbSNP:
1957+a, gdbSNP:397516520
1983+c, tdbSNP:17686573
1984+a, gdbSNP:376243998
2047+c, tdbSNP:368918887
2050+c, tdbSNP:373160383
2059+c, tdbSNP:202040519
2093+dbSNP:
2093+a, gdbSNP:2009813
2107+a, gdbSNP:374277541
2108+a, tdbSNP:372837858
2165+c, gdbSNP:377285489
2166+a, gdbSNP:116098815
2201+a, gdbSNP:190787113
2243+c, gdbSNP:367988928
2343+dbSNP:
2343+a, gdbSNP:117242563
2349+a, cdbSNP:369681519
2352+a, cdbSNP:371928388
2380+g, tdbSNP:376923538
2387+a, gdbSNP:193922623
2421+g, tdbSNP:117588730
2454+a, gdbSNP:397516521
2477+a, gdbSNP:182778119
2509+a, gdbSNP:200121281
2513+c, tdbSNP:187464772
2514+a, gdbSNP:192876953
2522+dbSNP:
2522+g, tdbSNP:371157868
2627+a, cdbSNP:76474894
2630+c, gdbSNP:375607964
2658+c, tdbSNP:368604900
2665+a, gdbSNP:372569289
2688+c, tdbSNP:267598434
2693+c, tdbSNP:377068202
2694+a, gdbSNP:367992907
2736+dbSNP:
2736+c, tdbSNP:376641425
2737+a, gdbSNP:369248015
2749+c, tdbSNP:372575878
2752+c, tdbSNP:376834009
2779+a, gdbSNP:180862949
2831+a, gdbSNP:201131315
2837+c, tdbSNP:397516522
2875+dbSNP:
2875+a, gdbSNP:201079716
2880+a, gdbSNP:186181155
2881+a, tdbSNP:372752031
2883+c, tdbSNP:4336838
2907+c, tdbSNP:375903247
2948+dbSNP:
2948+c, tdbSNP:373665895
2958+a, gdbSNP:188487794
3055+dbSNP:
3055+g, tdbSNP:202015519
3084+c, tdbSNP:202085370
complement(3093)-t, cdbSNP:2253273
3136+c, gdbSNP:376931962
3145+c, tdbSNP:368040638
3150+c, tdbSNP:138064129
3158+a, gdbSNP:149514924
3174+c, tdbSNP:113422365
3260..3261+dbSNP:
3260..3261+, gdbSNP:34393867
3272+a, gdbSNP:79457258
3273+c, tdbSNP:397516524
3300+c, tdbSNP:398123540
3302+c, gdbSNP:373083911
3336+dbSNP:
3336+a, gdbSNP:200208935
3350+c, tdbSNP:202176504
3371+a, gdbSNP:193922624
3376+c, tdbSNP:371303783
3378+a, tdbSNP:201733110
3440+c, tdbSNP:200236750
3441+a, gdbSNP:377716608
3476+a, gdbSNP:201312753
3481+c, gdbSNP:199682282
3492+a, gdbSNP:368017980
3500+a, gdbSNP:200525962
3518+a, gdbSNP:374397612
3527+c, tdbSNP:72549415
3528+a, cdbSNP:371248758
3551+dbSNP:
3551+a, gdbSNP:193125030
3601+c, gdbSNP:372761438
3604+a, gdbSNP:377030538
3657+c, tdbSNP:397516526
3687+a, gdbSNP:368959706
3714+c, tdbSNP:185212949
3716+a, gdbSNP:149760466
3797+dbSNP:
3797+a, gdbSNP:371124046
3841+a, gdbSNP:185715460
3855+a, gdbSNP:190884873
3969+dbSNP:
3969+a, gdbSNP:143603583
4003+a, gdbSNP:200574919
4006+a, gdbSNP:371442957
4008+c, tdbSNP:373721253
4041+a, gdbSNP:201469656
4051+a, gdbSNP:368635274
4071+c, gdbSNP:372097270
4075+a, gdbSNP:376526841
4117+a, gdbSNP:368281275
4142+c, tdbSNP:372397140
4160+g, tdbSNP:193922625
4188+c, tdbSNP:199821105
4189+c, gdbSNP:193922626
4214+c, tdbSNP:373261115
4215+g, tdbSNP:376401462
4216+a, gdbSNP:369982130
4221+a, gdbSNP:376792533
4245+c, tdbSNP:397516529
4291+dbSNP:
4291+a, cdbSNP:371561223
4316+a, cdbSNP:75901196
4318+a, gdbSNP:56229512
4338+a, cdbSNP:368817788
4362+a, gdbSNP:371748225
4412+dbSNP:
4412+a, gdbSNP:267598435
4441+a, gdbSNP:376638283
4449+a, gdbSNP:397516531
4467+c, tdbSNP:368930040
4565+dbSNP:
4565+a, gdbSNP:373024059
4585+c, tdbSNP:200450676
4608+c, tdbSNP:370082063
4647+g, tdbSNP:138270661
complement(4655)-g, adbSNP:79956707
4707+a, gdbSNP:373148393
4725+dbSNP:
4725+a, gdbSNP:201916326
4759..4760+, adbSNP:36013103
4772+a, gdbSNP:185237690
4788+a, gdbSNP:370332700
4799+c, tdbSNP:374338576
4812+dbSNP:
4812+a, gdbSNP:201675951
4815+c, tdbSNP:368826662
4843+c, tdbSNP:397516535
4854+c, tdbSNP:201880756
4860+a, gdbSNP:79811945
4867+c, tdbSNP:200070226
4881+c, tdbSNP:369612535
4890+c, tdbSNP:397516536
4960+a, cdbSNP:373079767
4971+g, tdbSNP:376104380
4995+a, gdbSNP:369323506
5070+dbSNP:
5070+c, gdbSNP:376251968
5109+c, tdbSNP:147060179
5121+c, tdbSNP:397516537
5124+a, gdbSNP:371085573
5125+a, gdbSNP:397516538
5145+a, cdbSNP:375643512
5166+a, cdbSNP:3766870
5256+c, tdbSNP:397516540
5268+a, tdbSNP:199988609
5274+a, gdbSNP:114534505
5310+a, gdbSNP:397516541
5358+c, tdbSNP:371966699
5381+c, gdbSNP:397516542
5520+a, gdbSNP:3820216
5530+c, tdbSNP:367609940
5574+c, tdbSNP:201218861
5607+g, tdbSNP:371250741
5635+c, tdbSNP:375521843
5637+a, gdbSNP:369835453
5663+c, tdbSNP:397516543
5673+a, tdbSNP:75230115
5691+a, gdbSNP:371934582
5706+c, tdbSNP:193922628
5733+c, tdbSNP:116774472
5739+a, gdbSNP:373282364
5765+a, gdbSNP:376441643
5772+g, tdbSNP:202117250
5773+g, tdbSNP:200197527
5774+a, gdbSNP:41315858
5776+a, gdbSNP:3766871
complement(5803)-c, adbSNP:79660660
5832+a, gdbSNP:377763336
5874+dbSNP:
5874+c, tdbSNP:397516545
5876+a, gdbSNP:199893812
5882+a, gdbSNP:370568809
5884+a, gdbSNP:374874044
5913+g, tdbSNP:372222227
5921+c, tdbSNP:368009389
5942+a, gdbSNP:373600053
5944+c, tdbSNP:368669045
5945+g, tdbSNP:397516546
5955+c, tdbSNP:189299988
5956+a, gdbSNP:267598436
6043+dbSNP:
6043+a, gdbSNP:200318013
6092+a, gdbSNP:376273633
6120+g, tdbSNP:369182325
6133+a, gdbSNP:373235823
6162+dbSNP:
6162+c, tdbSNP:376907409
6270+c, tdbSNP:371310419
6297+dbSNP:
6297+a, gdbSNP:267598437
6404+c, tdbSNP:142498105
6440+c, tdbSNP:370331492
6456+c, tdbSNP:373777614
6457+a, gdbSNP:186906598
6500+a, gdbSNP:397516547
6513+c, tdbSNP:370087757
6639+dbSNP:
6639+a, gdbSNP:368920731
6713+dbSNP:
6713+a, gdbSNP:375935636
6734+a, gdbSNP:370276573
6747+a, gdbSNP:373686520
6857+dbSNP:
6857+c, tdbSNP:121918597
6858+a, g, tdbSNP:368207198
6931+dbSNP:
6931+g, tdbSNP:375371340
complement(7026)-g, adbSNP:707189
7102+dbSNP:
7102+c, tdbSNP:121918603
7117+a, cdbSNP:370137005
7158+a, cdbSNP:116601686
7177+a, gdbSNP:375356774
7182+c, tdbSNP:182038403
7195+a, cdbSNP:200921429
7198+a, gdbSNP:373110998
7214+a, gdbSNP:369774984
7218+c, tdbSNP:375631485
7219+a, gdbSNP:369152386
7237+dbSNP:
7237+g, tdbSNP:397516548
7269+c, tdbSNP:183606632
7277+a, tdbSNP:121918601
7278+c, tdbSNP:376057173
7281+a, gdbSNP:371560909
7303+a, tdbSNP:374678615
7314+c, tdbSNP:267598438
7332+c, tdbSNP:377714735
7353+dbSNP:
7353+c, tdbSNP:367994477
7362+a, gdbSNP:371607508
7397+c, tdbSNP:28677142
7423+g, tdbSNP:188835713
7434+c, tdbSNP:374418643
7435+a, gdbSNP:367818536
7436+c, gdbSNP:371753590
7449+a, gdbSNP:375553387
7471+dbSNP:
7471+a, gdbSNP:140798752
7474+a, gdbSNP:377136047
7485+c, tdbSNP:72549416
7502+g, tdbSNP:373193260
7503+c, tdbSNP:373881578
7542+c, gdbSNP:121918598
7578+g, tdbSNP:377763795
7608+c, tdbSNP:143906555
7613+c, tdbSNP:374191985
7615+a, gdbSNP:191850147
7662+a, gdbSNP:371088367
7699+c, tdbSNP:374086940
7728+c, tdbSNP:367987360
7739+a, gdbSNP:200105499
7744+g, tdbSNP:373602064
7809+a, gdbSNP:201082550
7828+a, gdbSNP:368673631
7926+dbSNP:
7926+a, gdbSNP:684923
7926+a, gdbSNP:386605488
7927+a, gdbSNP:59331340
8045+dbSNP:
8045+a, gdbSNP:377473366
8089+dbSNP:
8089+g, tdbSNP:376527336
8116+c, gdbSNP:370333448
8144+c, gdbSNP:373767708
8158+g, tdbSNP:181732213
8180+a, gdbSNP:202020477
8195+a, gdbSNP:370072276
8265+dbSNP:
8265+g, tdbSNP:200420897
8282+c, tdbSNP:201500134
8348+dbSNP:
8348+a, gdbSNP:368952500
8358+a, gdbSNP:371604667
8389+a, gdbSNP:376015452
8393+a, gdbSNP:200053476
8429+dbSNP:
8429+c, tdbSNP:397516550
8462+c, tdbSNP:369963696
8497+c, tdbSNP:373172640
8546+a, cdbSNP:397516551
8554+c, gdbSNP:377285717
8568+dbSNP:
8568+c, tdbSNP:144876996
8616+a, gdbSNP:375915461
8672+dbSNP:
8672+c, tdbSNP:374327388
8726+dbSNP:
8726+c, tdbSNP:374318917
8936+dbSNP:
8936+a, gdbSNP:375408791
8993+dbSNP:
8993+a, gdbSNP:34967813
9006+a, cdbSNP:372703473
9108+dbSNP:
9108+a, tdbSNP:376097713
9205+dbSNP:
9205+a, gdbSNP:370141970
9214+g, tdbSNP:193007458
9310+dbSNP:
9310+a, gdbSNP:375482798
9438+g, tdbSNP:2797436
9552+dbSNP:
9552+a, gdbSNP:367780360
9574+dbSNP:
9574+c, tdbSNP:181105904
9629+a, tdbSNP:368617169
9639+c, tdbSNP:371931287
9680+a, gdbSNP:184218219
9689+a, gdbSNP:369276868
9723+dbSNP:
9723+a, gdbSNP:369285719
9739+a, gdbSNP:372601642
9747+a, gdbSNP:377730320
9775+a, gdbSNP:371147744
9786+c, tdbSNP:116442127
9789+c, gdbSNP:377626309
9792+c, tdbSNP:370740528
9811+a, gdbSNP:374899980
9892+c, tdbSNP:368028300
9903+c, tdbSNP:370556829
9987+a, gdbSNP:190537182
10011+a, gdbSNP:368661838
10043+dbSNP:
10043+a, gdbSNP:201081663
10047+a, gdbSNP:184937795
10074+c, tdbSNP:371965471
10083+a, gdbSNP:199730192
10113+c, tdbSNP:369150213
10132+a, gdbSNP:373103377
10137+c, tdbSNP:376439588
10142+a, gdbSNP:201827665
10167+a, gdbSNP:144428932
10179+a, cdbSNP:370015676
10207+c, gdbSNP:374584820
10216+c, tdbSNP:377712921
10264+dbSNP:
10264+a, gdbSNP:375897240
10269+a, gdbSNP:370379276
10341+a, gdbSNP:373769240
10344+a, gdbSNP:367614265
10350+c, tdbSNP:370078129
10374+dbSNP:
10374+c, tdbSNP:138073811
10378+a, gdbSNP:397516497
10386+c, gdbSNP:368064371
10501+dbSNP:
10501+a, gdbSNP:147512481
10572+g, tdbSNP:199498105
10617+dbSNP:
10617+a, gdbSNP:377334424
10623+c, tdbSNP:2797441
10643+c, tdbSNP:115622575
10648+a, c, tdbSNP:201749277
10649+a, gdbSNP:375947003
10722+dbSNP:
10722+a, gdbSNP:397516498
10731+a, gdbSNP:183911939
10761+a, gdbSNP:144256966
10896+dbSNP:
10896+c, tdbSNP:2685301
10931+g, tdbSNP:56228594
11061+dbSNP:
11061+g, tdbSNP:370332882
11095+a, cdbSNP:184527312
11125+c, tdbSNP:374720955
11175+dbSNP:
11175+c, tdbSNP:368014495
11246+dbSNP:
11246+a, tdbSNP:200013680
11326+dbSNP:
11326+a, gdbSNP:375095599
11337+g, tdbSNP:397516502
11412+dbSNP:
11412+a, tdbSNP:377727321
11518+dbSNP:
11518+a, tdbSNP:397516504
11616+dbSNP:
11616+c, tdbSNP:397516505
11677+a, gdbSNP:12742148
11733+dbSNP:
11733+c, tdbSNP:375364162
11931+dbSNP:
11931+c, tdbSNP:370924416
11955+c, tdbSNP:78939657
12039+dbSNP:
12039+g, tdbSNP:370103782
12102+dbSNP:
12102+a, gdbSNP:368634803
12108+c, tdbSNP:56226196
12167+a, tdbSNP:375021201
12234+c, tdbSNP:368103385
12279+a, gdbSNP:41267517
12280+a, gdbSNP:376781046
12285+c, tdbSNP:375813693
12309+a, gdbSNP:368948386
12369+a, cdbSNP:371599450
12411+c, tdbSNP:377313490
12417+c, tdbSNP:369971378
12432+c, gdbSNP:121918599
12435+c, tdbSNP:184625125
12444+c, tdbSNP:189205421
12451+a, cdbSNP:192890834
12486+a, gdbSNP:373185648
12529+a, gdbSNP:267598439
12612+a, gdbSNP:377293019
12664+c, gdbSNP:397516508
12699+c, tdbSNP:369532267
12722+a, gdbSNP:121918605
12729+g, tdbSNP:372943408
12747+a, gdbSNP:3753631
12767+c, tdbSNP:375950722
12783+c, tdbSNP:370297602
12789+a, gdbSNP:147887477
12825+c, tdbSNP:373606009
12889+c, tdbSNP:376974288
12890+a, gdbSNP:371396204
12906+a, gdbSNP:374332015
12946+a, gdbSNP:368599791
12962+c, tdbSNP:201829896
12978+c, tdbSNP:185482345
12979+c, tdbSNP:190009333
12993+c, tdbSNP:267598440
13008..13009+, tdbSNP:34238075
13039+c, tdbSNP:200092869
13117+a, gdbSNP:371680410
13151+a, gdbSNP:376433496
13200+c, tdbSNP:369964660
13213+a, gdbSNP:372880584
13251+a, gdbSNP:375816494
13257+a, cdbSNP:369917806
13326+c, tdbSNP:397516509
13387+dbSNP:
13387+a, cdbSNP:376908332
13404+a, cdbSNP:370131928
13423+a, gdbSNP:374019555
complement(13449)-dbSNP:
complement(13449)-t, gdbSNP:77959278
13518+c, tdbSNP:373913909
13525+a, gdbSNP:367809296
13530+c, tdbSNP:183933829
13609+dbSNP:
13609+c, tdbSNP:121918600
13648+a, gdbSNP:397516510
13661+a, gdbSNP:397516511
13686+dbSNP:
13686+c, tdbSNP:57360419
13720+c, tdbSNP:199624074
13776+c, tdbSNP:397516512
13785+c, tdbSNP:375213838
13786+a, gdbSNP:189345192
13801+c, tdbSNP:372599604
13815+c, tdbSNP:377503418
13832+c, tdbSNP:200803276
13838+a, gdbSNP:371157286
13860+a, gdbSNP:115854664
13863+c, gdbSNP:377670364
13908+dbSNP:
13908+a, tdbSNP:368675632
13995+g, tdbSNP:375350387
14077+dbSNP:
14077+a, g, tdbSNP:121918604
14094+a, gdbSNP:374606415
14097+a, gdbSNP:78369334
14103+c, tdbSNP:138498780
14149+c, tdbSNP:112864477
14193+c, tdbSNP:370393302
14242+dbSNP:
14242+g, tdbSNP:397516513
14254+g, tdbSNP:368627292
14287+dbSNP:
14287+a, gdbSNP:397516514
14314+a, cdbSNP:201119364
14340+c, tdbSNP:368971586
14421+dbSNP:
14421+c, tdbSNP:369715118
14430+c, tdbSNP:372967537
14434+a, gdbSNP:193922622
14535+a, gdbSNP:397516515
14541+c, tdbSNP:75206601
14560+dbSNP:
14560+a, gdbSNP:397516516
14590+a, gdbSNP:267598441
14601+a, c, tdbSNP:114303476
14604+g, tdbSNP:370996795
14613+c, tdbSNP:375456172
14622+a, gdbSNP:368463791
14699+c, gdbSNP:121918606
14823+dbSNP:
14823+c, gdbSNP:201371633
15016+c, tdbSNP:368031082
15079+c, tdbSNP:192720264
15080+a, cdbSNP:74703306
15153+c, gdbSNP:16835891
15154+a, gdbSNP:12725752
15209+c, gdbSNP:113799947
15242+g, tdbSNP:373132792
15244..15245+, gdbSNP:35922043
15254+a, gdbSNP:28497968
complement(15278)-t, cdbSNP:146899712
15352+c, tdbSNP:76286925
15423+a, gdbSNP:184537159
15529+a, gdbSNP:370979951
15590..15591+, tdbSNP:113047070
15658..15659+, adbSNP:377407067
15658+a, gdbSNP:368448641
15659+, adbSNP:377434132
15671+c, tdbSNP:16835894
15729..15730+, ccdbSNP:371107485
15729+, cdbSNP:35582606
15734..15741+, cccccccgdbSNP:202053866
15738+c, gdbSNP:12406863
15740+, cdbSNP:397983403
15803+c, tdbSNP:373599263
15805+a, tdbSNP:139272315
15811+a, cdbSNP:143228973
15911..15912+, aaacdbSNP:10692285
15912..15913+, aaacdbSNP:71810573
15917..15918+, acaadbSNP:10667874
16004+c, tdbSNP:147077947
16164+a, gdbSNP:12594
16170+a, gdbSNP:138220876
16184+a, gdbSNP:114925843
16239+c, tdbSNP:149588183
16331+c, tdbSNP:16835904
Gene SymbolRYR2
Gene SynonymARVC2; ARVD2; RyR; RYR-2; VTSIP
Chromosome1
Locus Map1q43
Title Human cardiac ryanodine receptor: preparation, crystallization and preliminary X-ray ANALysis of the N-terminal region .
Author Borko L, Kost'an J, Zahradnikova A, Pevala V, Gasperik J, Hostinova E, Urbanikova L, Djinovic-Carugo K, Bauerova-Hlinkova V and Sevcik J.
Journal Protein Pept. Lett. 20 (11), 1211-1216 (2013)
Title Investigations of the contribution of a putative glycine hinge to ryanodine receptor channel gating .
Author Euden J, Mason SA, Viero C, Thomas NL and Williams AJ.
Journal J. Biol. Chem. 288 (23), 16671-16679 (2013)
Title Prevalence of arrhythmia-associated gene mutations and risk of sudden cardiac death in the Finnish population .
Author Lahtinen AM, Havulinna AS, Noseworthy PA, Jula A, Karhunen PJ, Perola M, Newton-Cheh C, Salomaa V and Kontula K.
Journal Ann. Med. 45 (4), 328-335 (2013)
Title Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations .
Author Ding L, Abebe T, Beyene J, Wilke RA, Goldberg A, Woo JG, Martin LJ, Rothenberg ME, Rao M, Hershey GK, Chakraborty R and Mersha TB.
Journal Hum. Genomics 7, 16 (2013)
Title Association of sorcin with the cardiac ryanodine receptor .
Author Meyers MB, Pickel VM, Sheu SS, Sharma VK, Scotto KW and Fishman GI.
Journal J. Biol. Chem. 270 (44), 26411-26418 (1995)
Title A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43 .
Author Rampazzo A, Nava A, Erne P, Eberhard M, Vian E, Slomp P, Tiso N, Thiene G and Danieli GA.
Journal Hum. Mol. Genet. 4 (11), 2151-2154 (1995)
Title Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes .
Author Otsu K, Fujii J, Periasamy M, Difilippantonio M, Uppender M, Ward
Journal Genomics 17 (2), 507-509 (1993)
Title Catecholaminergic Polymorphic Ventricular Tachycardia .
Author Napolitano,C., Priori,S.G. and Bloise,R.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy .
Author McNally,E., MacLeod,H. and Dellefave-Castillo,L.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Molecular cloning of cDNA encoding the Ca2+ release channel (ryanodine receptor) of rabbit cardiac muscle sarcoplasmic reticulum .
Author Otsu K, Willard HF, Khanna VK, Zorzato F, Green NM and MacLennan DH.
Journal J. Biol. Chem. 265 (23), 13472-13483 (1990)

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