• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.


RefSeq Accession Definition Services Price Order
NM_000540 Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. ORF Sequence Quote
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_000540.2, 113204614
Length 15391 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.
Product ryanodine receptor 1 isoform 1
Comment

Summary: This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (1) encodes the longer isoform (1).

RefSeq NP_000531.2
CDS 131..15247
Misc Feature(1)152..748
Misc Feature(2)152..748
Misc Feature(3)419..586
Misc Feature(4)605..742
Misc Feature(5)758..919
Misc Feature(6)761..1297
Misc Feature(7)938..1204
Misc Feature(8)1448..2059
Misc Feature(9)2108..2518
Misc Feature(10)2651..9007
Misc Feature(11)2675..2959
Misc Feature(12)3017..3301
Misc Feature(13)3380..3748
Misc Feature(14)4415..4837
Misc Feature(15)6599..7225
Misc Feature(16)8330..8599
Misc Feature(17)8657..8659
Misc Feature(18)8657..8659
Misc Feature(19)8657..8659
Misc Feature(20)8690..8956
Misc Feature(21)9365..9367
Misc Feature(22)10970..11059
Misc Feature(23)11033..11035
Misc Feature(24)11033..11035
Misc Feature(25)11738..12106
Misc Feature(26)12377..12529
Misc Feature(27)13109..13171
Misc Feature(28)13172..13234
Misc Feature(29)<13466..14143
Misc Feature(30)13808..13870
Misc Feature(31)14084..14146
Misc Feature(32)14471..14533
Misc Feature(33)<14501..14833
Misc Feature(34)14552..14614
Misc Feature(35)14648..14710
Misc Feature(36)14720..14722
Misc Feature(37)14729..14731
Misc Feature(38)14891..14953
Exon (1)1..175
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (2)176..295
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (3)296..400
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (4)401..475
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (5)476..554
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (6)555..667
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (7)668..761
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (8)762..855
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (9)856..930
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (10)931..1087
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (11)1088..1252
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (12)1253..1374
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (13)1375..1570
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (14)1571..1706
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (15)1707..1802
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (16)1803..1921
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (17)1922..2055
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (18)2056..2297
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (19)2298..2490
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (20)2491..2707
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (21)2708..2812
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (22)2813..2916
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (23)2917..3000
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (24)3001..3308
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (25)3309..3511
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (26)3512..3686
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (27)3687..3895
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (28)3896..4290
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (29)4291..4423
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (30)4424..4584
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (31)4585..4750
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (32)4751..4837
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (33)4838..5064
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (34)5065..5677
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (35)5678..5944
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (36)5945..6145
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (37)6146..6257
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (38)6258..6404
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (39)6405..6678
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (40)6679..6793
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (41)6794..6926
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (42)6927..7021
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (43)7022..7157
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (44)7158..7344
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (45)7345..7453
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (46)7454..7574
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (47)7575..7744
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (48)7745..7965
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (49)7966..8056
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (50)8057..8197
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (51)8198..8361
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (52)8362..8440
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (53)8441..8530
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (54)8531..8671
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (55)8672..8746
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (56)8747..8822
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (57)8823..8946
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (58)8947..9062
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (59)9063..9130
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (60)9131..9252
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (61)9253..9302
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (62)9303..9363
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (63)9364..9602
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (64)9603..9684
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (65)9685..9815
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (66)9816..10148
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (67)10149..10389
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (68)10390..10477
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (69)10478..10570
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (70)10571..10585
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (71)10586..10756
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (72)10757..10816
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (73)10817..10954
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (74)10955..11067
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (75)11068..11164
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (76)11165..11271
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (77)11272..11323
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (78)11324..11389
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (79)11390..11489
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (80)11490..11569
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (81)11570..11646
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (82)11647..11720
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (83)11721..11738
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (84)11739..11819
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (85)11820..11908
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (86)11909..12037
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (87)12038..12142
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (88)12143..12224
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (89)12225..12412
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (90)12413..12754
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (91)12755..13567
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (92)13568..13644
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (93)13645..13789
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (94)13790..13876
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (95)13877..14128
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (96)14129..14259
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (97)14260..14302
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (98)14303..14433
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (99)14434..14494
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (100)14495..14641
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (101)14642..14776
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (102)14777..14933
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (103)14934..14998
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (104)14999..15099
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (105)15100..15151
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Exon (106)15152..15391
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Translation MGDAEGEDEVQFLRTDDEVVLQCSATVLKEQLKLCLAAEGFGNRLCFLEPTSNAQNVPPD LAICCFVLEQSLSVRALQEMLANTVEAGVESSQGGGHRTLLYGHAILLRHAHSRMYLSCL TTSRSMTDKLAFDVGLQEDATGEACWWTMHPASKQRSEGEKVRVGDDIILVSVSSERYLH LSTASGELQVDASFMQTLWNMNPICSRCEEGFVTGGHVLRLFHGHMDECLTISPADSDDQ RRLVYYEGGAVCTHARSLWRLEPLRISWSGSHLRWGQPLRVRHVTTGQYLALTEDQGLVV VDASKAHTKATSFCFRISKEKLDVAPKRDVEGMGPPEIKYGESLCFVQHVASGLWLTYAA PDPKALRLGVLKKKAMLHQEGHMDDALSLTRCQQEESQAARMIHSTNGLYNQFIKSLDSF SGKPRGSGPPAGTALPIEGVILSLQDLIIYFEPPSEDLQHEEKQSKLRSLRNRQSLFQEE GMLSMVLNCIDRLNVYTTAAHFAEFAGEEAAESWKEIVNLLYELLASLIRGNRSNCALFS TNLDWLVSKLDRLEASSGILEVLYCVLIESPEVLNIIQENHIKSIISLLDKHGRNHKVLD VLCSLCVCNGVAVRSNQDLITENLLPGRELLLQTNLINYVTSIRPNIFVGRAEGTTQYSK WYFEVMVDEVTPFLTAQATHLRVGWALTEGYTPYPGAGEGWGGNGVGDDLYSYGFDGLHL WTGHVARPVTSPGQHLLAPEDVISCCLDLSVPSISFRINGCPVQGVFESFNLDGLFFPVV SFSAGVKVRFLLGGRHGEFKFLPPPGYAPCHEAVLPRERLHLEPIKEYRREGPRGPHLVG PSRCLSHTDFVPCPVDTVQIVLPPHLERIREKLAENIHELWALTRIEQGWTYGPVRDDNK RLHPCLVDFHSLPEPERNYNLQMSGETLKTLLALGCHVGMADEKAEDNLKKTKLPKTYMM SNGYKPAPLDLSHVRLTPAQTTLVDRLAENGHNVWARDRVGQGWSYSAVQDIPARRNPRL VPYRLLDEATKRSNRDSLCQAVRTLLGYGYNIEPPDQEPSQVENQSRCDRVRIFRAEKSY TVQSGRWYFEFEAVTTGEMRVGWARPELRPDVELGADELAYVFNGHRGQRWHLGSEPFGR PWQPGDVVGCMIDLTENTIIFTLNGEVLMSDSGSETAFREIEIGDGFLPVCSLGPGQVGH LNLGQDVSSLRFFAICGLQEGFEPFAINMQRPVTTWFSKGLPQFEPVPLEHPHYEVSRVD GTVDTPPCLRLTHRTWGSQNSLVEMLFLRLSLPVQFHQHFRCTAGATPLAPPGLQPPAED EARAAEPDPDYENLRRSAGGWSEAENGKEGTAKEGAPGGTPQAGGEAQPARAENEKDATT EKNKKRGFLFKAKKVAMMTQPPATPTLPRLPHDVVPADNRDDPEIILNTTTYYYSVRVFA GQEPSCVWAGWVTPDYHQHDMSFDLSKVRVVTVTMGDEQGNVHSSLKCSNCYMVWGGDFV SPGQQGRISHTDLVIGCLVDLATGLMTFTANGKESNTFFQVEPNTKLFPAVFVLPTHQNV IQFELGKQKNIMPLSAAMFQSERKNPAPQCPPRLEMQMLMPVSWSRMPNHFLQVETRRAG ERLGWAVQCQEPLTMMALHIPEENRCMDILELSERLDLQRFHSHTLRLYRAVCALGNNRV AHALCSHVDQAQLLHALEDAHLPGPLRAGYYDLLISIHLESACRSRRSMLSEYIVPLTPE TRAITLFPPGRSTENGHPRHGLPGVGVTTSLRPPHHFSPPCFVAALPAAGAAEAPARLSP AIPLEALRDKALRMLGEAVRDGGQHARDPVGGSVEFQFVPVLKLVSTLLVMGIFGDEDVK QILKMIEPEVFTEEEEEEDEEEEGEEEDEEEKEEDEEETAQEKEDEEKEEEEAAEGEKEE GLEEGLLQMKLPESVKLQMCHLLEYFCDQELQHRVESLAAFAERYVDKLQANQRSRYGLL IKAFSMTAAETARRTREFRSPPQEQINMLLQFKDGTDEEDCPLPEEIRQDLLDFHQDLLA HCGIQLDGEEEEPEEETTLGSRLMSLLEKVRLVKKKEEKPEEERSAEESKPRSLQELVSH MVVRWAQEDFVQSPELVRAMFSLLHRQYDGLGELLRALPRAYTISPSSVEDTMSLLECLG QIRSLLIVQMGPQEENLMIQSIGNIMNNKVFYQHPNLMRALGMHETVMEVMVNVLGGGES KEIRFPKMVTSCCRFLCYFCRISRQNQRSMFDHLSYLLENSGIGLGMQGSTPLDVAAASV IDNNELALALQEQDLEKVVSYLAGCGLQSCPMLVAKGYPDIGWNPCGGERYLDFLRFAVF VNGESVEENANVVVRLLIRKPECFGPALRGEGGSGLLAAIEEAIRISEDPARDGPGIRRD RRREHFGEEPPEENRVHLGHAIMSFYAALIDLLGRCAPEMHLIQAGKGEALRIRAILRSL VPLEDLVGIISLPLQIPTLGKDGALVQPKMSASFVPDHKASMVLFLDRVYGIENQDFLLH VLDVGFLPDMRAAASLDTATFSTTEMALALNRYLCLAVLPLITKCAPLFAGTEHRAIMVD SMLHTVYRLSRGRSLTKAQRDVIEDCLMSLCRYIRPSMLQHLLRRLVFDVPILNEFAKMP LKLLTNHYERCWKYYCLPTGWANFGVTSEEELHLTRKLFWGIFDSLAHKKYDPELYRMAM PCLCAIAGALPPDYVDASYSSKAEKKATVDAEGNFDPRPVETLNVIIPEKLDSFINKFAE YTHEKWAFDKIQNNWSYGENIDEELKTHPMLRPYKTFSEKDKEIYRWPIKESLKAMIAWE WTIEKAREGEEEKTEKKKTRKISQSAQTYDPREGYNPQPPDLSAVTLSRELQAMAEQLAE NYHNTWGRKKKQELEAKGGGTHPLLVPYDTLTAKEKARDREKAQELLKFLQMNGYAVTRG LKDMELDSSSIEKRFAFGFLQQLLRWMDISQEFIAHLEAVVSSGRVEKSPHEQEIKFFAK ILLPLINQYFTNHCLYFLSTPAKVLGSGGHASNKEKEMITSLFCKLAALVRHRVSLFGTD APAVVNCLHILARSLDARTVMKSGPEIVKAGLRSFFESASEDIEKMVENLRLGKVSQART QVKGVGQNLTYTTVALLPVLTTLFQHIAQHQFGDDVILDDVQVSCYRTLCSIYSLGTTKN TYVEKLRPALGECLARLAAAMPVAFLEPQLNEYNACSVYTTKSPRERAILGLPNSVEEMC PDIPVLERLMADIGGLAESGARYTEMPHVIEITLPMLCSYLPRWWERGPEAPPSALPAGA PPPCTAVTSDHLNSLLGNILRIIVNNLGIDEASWMKRLAVFAQPIVSRARPELLQSHFIP TIGRLRKRAGKVVSEEEQLRLEAKAEAQEGELLVRDEFSVLCRDLYALYPLLIRYVDNNR AQWLTEPNPSAEELFRMVGEIFIYWSKSHNFKREEQNFVVQNEINNMSFLTADNKSKMAK AGDIQSGGSDQERTKKKRRGDRYSVQTSLIVATLKKMLPIGLNMCAPTDQDLITLAKTRY ALKDTDEEVREFLHNNLHLQGKVEGSPSLRWQMALYRGVPGREEDADDPEKIVRRVQEVS AVLYYLDQTEHPYKSKKAVWHKLLSKQRRRAVVACFRMTPLYNLPTHRACNMFLESYKAA WILTEDHSFEDRMIDDLSKAGEQEEEEEEVEEKKPDPLHQLVLHFSRTALTEKSKLDEDY LYMAYADIMAKSCHLEEGGENGEAEEEVEVSFEEKQMEKQRLLYQQARLHTRGAAEMVLQ MISACKGETGAMVSSTLKLGISILNGGNAEVQQKMLDYLKDKKEVGFFQSIQALMQTCSV LDLNAFERQNKAEGLGMVNEDGTVINRQNGEKVMADDEFTQDLFRFLQLLCEGHNNDFQN YLRTQTGNTTTINIIICTVDYLLRLQESISDFYWYYSGKDVIEEQGKRNFSKAMSVAKQV FNSLTEYIQGPCTGNQQSLAHSRLWDAVVGFLHVFAHMMMKLAQDSSQIELLKELLDLQK DMVVMLLSLLEGNVVNGMIARQMVDMLVESSSNVEMILKFFDMFLKLKDIVGSEAFQDYV TDPRGLISKKDFQKAMDSQKQFSGPEIQFLLSCSEADENEMINCEEFANRFQEPARDIGF NVAVLLTNLSEHVPHDPRLHNFLELAESILEYFRPYLGRIEIMGASRRIERIYFEISETN RAQWEMPQVKESKRQFIFDVVNEGGEAEKMELFVSFCEDTIFEMQIAAQISEPEGEPETD EDEGAGAAEAGAEGAEEGAAGLEGTAATAAAGATARVVAAAGRALRGLSYRSLRRRVRRL RRLTAREAATAVAALLWAAVTRAGAAGAGAAAGALGLLWGSLFGGGLVEGAKKVTVTELL AGMPDPTSDEVHGEQPAGPGGDADGEGASEGAGDAAEGAGDEEEAVHEAGPGGADGAVAV TDGGPFRPEGAGGLGDMGDTTPAEPPTPEGSPILKRKLGVDGVEEELPPEPEPEPEPELE PEKADAENGEKEEVPEPTPEPPKKQAPPSPPPKKEEAGGEFWGELEVQRVKFLNYLSRNF YTLRFLALFLAFAINFILLFYKVSDSPPGEDDMEGSAAGDVSGAGSGGSSGWGLGAGEEA EGDEDENMVYYFLEESTGYMEPALRCLSLLHTLVAFLCIIGYNCLKVPLVIFKREKELAR KLEFDGLYITEQPEDDDVKGQWDRLVLNTPSFPSNYWDKFVKRKVLDKHGDIYGRERIAE LLGMDLATLEITAHNERKPNPPPGLLTWLMSIDVKYQIWKFGVIFTDNSFLYLGWYMVMS LLGHYNNFFFAAHLLDIAMGVKTLRTILSSVTHNGKQLVMTVGLLAVVVYLYTVVAFNFF RKFYNKSEDEDEPDMKCDDMMTCYLFHMYVGVRAGGGIGDEIEDPAGDEYELYRVVFDIT FFFFVIVILLAIIQGLIIDAFGELRDQQEQVKEDMETKCFICGIGSDYFDTTPHGFETHT LEEHNLANYMFFLMYLINKDETEHTGQESYVWKMYQERCWDFFPAGDCFRKQYEDQLS
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Position Chain Variation Link
23+dbSNP:
23+c, tdbSNP:4632259
29+c, tdbSNP:190259953
165..167+cg, tccdbSNP:193922743
168+g, tdbSNP:193922744
170+c, tdbSNP:200665559
175+a, gdbSNP:200117623
181..183+dbSNP:
181..183+, tgadbSNP:193922745
209+a, gdbSNP:143481004
219+a, tdbSNP:145771708
224+c, tdbSNP:138630815
227+a, gdbSNP:193922746
233+c, tdbSNP:193922747
241+c, tdbSNP:142909076
244+c, tdbSNP:150794120
260+c, tdbSNP:193922748
261+a, gdbSNP:139161723
282+a, cdbSNP:193922749
307+dbSNP:
307+c, tdbSNP:201938317
308+a, gdbSNP:118192160
342+a, cdbSNP:118192113
346+g, tdbSNP:113389877
381+c, tdbSNP:186983396
394+c, tdbSNP:190919088
412+dbSNP:
412+c, tdbSNP:139629035
427+a, gdbSNP:144241486
455+c, tdbSNP:118192173
506+dbSNP:
506+a, gdbSNP:146065960
547+c, tdbSNP:140004993
548+a, gdbSNP:142474192
563+dbSNP:
563+c, tdbSNP:118192114
573+c, tdbSNP:151325948
593+a, cdbSNP:193922750
597+a, gdbSNP:193922751
601+a, tdbSNP:140573900
609+a, gdbSNP:193922752
617+c, tdbSNP:118192161
618+g, tdbSNP:193922753
619+c, tdbSNP:199855033
623+a, gdbSNP:193922754
626+a, gdbSNP:193922755
627+a, gdbSNP:193922756
632+a, gdbSNP:201432446
659+c, tdbSNP:193922757
663+a, tdbSNP:193922758
678+dbSNP:
678+c, tdbSNP:150038701
679+c, tdbSNP:147707866
684+a, gdbSNP:180699273
703+c, tdbSNP:892054
724+a, gdbSNP:2229139
744+c, gdbSNP:201834803
774+dbSNP:
774+a, gdbSNP:118192115
782+a, gdbSNP:193922759
807+a, tdbSNP:112596687
810+a, tdbSNP:193922760
868+dbSNP:
868+g, tdbSNP:367543054
872+a, c, gdbSNP:1801086
955+dbSNP:
955+g, tdbSNP:138687891
961+c, gdbSNP:34004552
975+a, gdbSNP:201164249
980+a, gdbSNP:201388370
989+c, gdbSNP:201292282
1002+c, tdbSNP:200572262
1003+a, gdbSNP:2229140
1027+c, gdbSNP:76854339
1036+c, tdbSNP:145943283
1037+a, gdbSNP:141764906
1077+a, g, tdbSNP:193922761
1081+c, tdbSNP:138968996
1112+dbSNP:
1112+c, tdbSNP:193922762
1118+a, gdbSNP:150562985
1144+a, cdbSNP:8101510
1151+a, c, gdbSNP:121918592
1169+a, gdbSNP:138647682
1201+c, tdbSNP:77654389
1207+c, tdbSNP:10406027
1229+c, tdbSNP:140037232
1230+a, g, tdbSNP:113332073
1246+a, gdbSNP:193922763
1270+dbSNP:
1270+a, gdbSNP:35189056
1282+c, tdbSNP:149770144
1285+c, tdbSNP:144658230
1295+a, cdbSNP:148587119
1301+c, tdbSNP:180914178
1331+c, g, tdbSNP:193922764
1332+a, gdbSNP:193922766
1335+c, tdbSNP:118192117
1339+c, gdbSNP:118192116
1348+c, tdbSNP:3745846
1350+a, gdbSNP:142961693
1374+a, gdbSNP:202104274
1410+dbSNP:
1410+c, tdbSNP:118192118
1411..1412+, cgdbSNP:193922851
1416+c, tdbSNP:201054455
1514+a, gdbSNP:199592055
1549+a, cdbSNP:200298392
1552+g, tdbSNP:193922767
1583+dbSNP:
1583+a, gdbSNP:147723844
1604+c, tdbSNP:199826952
1664+a, gdbSNP:118192119
1695+a, c, gdbSNP:118192162
1719+dbSNP:
1719+a, gdbSNP:111888148
1727+c, tdbSNP:193922768
1728+a, gdbSNP:144336148
1745+c, tdbSNP:193922769
1760+g, tdbSNP:113812662
1784+c, tdbSNP:193922770
1798+a, gdbSNP:2288888
1872..1873+dbSNP:
1872..1873+, atcadbSNP:193922771
1883+a, gdbSNP:200770015
1911+a, gdbSNP:183860084
1925+dbSNP:
1925+c, gdbSNP:190885369
1964+c, gdbSNP:118204423
1970+c, tdbSNP:118192172
1971+g, tdbSNP:193922772
2007+c, gdbSNP:140133838
2008+g, tdbSNP:193922773
2041+a, cdbSNP:150299276
2053+c, gdbSNP:116591968
2086+dbSNP:
2086+a, gdbSNP:202105428
2097+c, tdbSNP:4802472
2134+a, c, tdbSNP:78835441
2195+a, gdbSNP:144845360
2221+c, tdbSNP:138704724
2224+c, tdbSNP:149942213
2246+a, gdbSNP:141717554
2251+a, cdbSNP:146104858
2252+a, gdbSNP:138874610
2290+c, gdbSNP:200914778
2303+dbSNP:
2303+a, gdbSNP:200698933
2325+c, tdbSNP:141444525
2353+c, tdbSNP:150831055
2371+a, gdbSNP:34097444
2378+a, gdbSNP:111408211
2385+c, tdbSNP:201229451
2386+a, gdbSNP:149649489
2405+a, gdbSNP:147320363
2416+c, tdbSNP:3745847
2450+a, gdbSNP:147918857
2496+dbSNP:
2496+a, gdbSNP:200069592
2514+a, gdbSNP:201635585
2545+c, tdbSNP:141881325
2579+c, tdbSNP:150633775
2585+c, tdbSNP:193922774
2618+c, tdbSNP:142548565
2620+a, gdbSNP:150934716
2630+c, tdbSNP:140686309
2658+g, tdbSNP:144911352
2661+a, gdbSNP:146754847
2663+c, tdbSNP:201545585
2667+c, tdbSNP:193922775
2674+c, tdbSNP:140374285
2675+a, gdbSNP:200893443
2718+dbSNP:
2718+c, tdbSNP:145456934
2722+c, tdbSNP:199541173
2732+c, tdbSNP:138020885
2752+a, gdbSNP:149381996
2764+c, tdbSNP:202233201
2775+c, tdbSNP:143701391
2788+c, tdbSNP:148094797
2792+c, tdbSNP:141838633
2807+a, gdbSNP:147336515
2810+a, cdbSNP:111976711
2817+dbSNP:
2817+a, gdbSNP:147515913
2827+a, cdbSNP:201401814
2842+a, gdbSNP:139339574
2897+a, gdbSNP:149913097
2899+a, gdbSNP:144935444
2927+dbSNP:
2927+a, gdbSNP:148623597
3000+c, tdbSNP:201827275
3027+dbSNP:
3027+c, tdbSNP:143179371
3034+a, gdbSNP:146651758
3049+c, tdbSNP:139363830
3063+c, tdbSNP:200124278
3073+a, c, gdbSNP:2228069
3086+c, tdbSNP:150993059
3109+c, tdbSNP:2228070
3125+c, tdbSNP:150442096
3126+a, gdbSNP:180714609
3128+a, gdbSNP:138209392
3151+c, tdbSNP:143891703
3172+a, gdbSNP:2228074
3173+c, tdbSNP:139006437
3182+c, gdbSNP:143331857
3195+c, tdbSNP:144830213
3201+a, gdbSNP:148146893
3225+a, gdbSNP:141942845
3226+c, tdbSNP:150546099
3241+c, tdbSNP:145434723
3257+c, tdbSNP:111272095
3274+c, tdbSNP:143242075
3341+dbSNP:
3341+a, gdbSNP:146188106
3382+c, tdbSNP:144164620
3416+a, gdbSNP:187528159
3431+a, gdbSNP:145088074
3441+c, tdbSNP:149096607
3456+a, gdbSNP:35719391
3481+c, tdbSNP:151182947
3511+c, tdbSNP:200780880
3548+dbSNP:
3548+c, tdbSNP:193922776
3550+c, gdbSNP:201599911
3561+c, tdbSNP:201940876
3572+a, gdbSNP:201174268
3586+c, tdbSNP:11083462
3593+a, gdbSNP:183262321
3619+c, gdbSNP:151086215
3635+a, cdbSNP:139069946
3697+dbSNP:
3697+c, tdbSNP:200161205
3748+c, tdbSNP:191970833
3774+c, tdbSNP:141518670
3930+dbSNP:
3930+c, gdbSNP:150495044
3940+c, tdbSNP:202133565
3988+c, tdbSNP:16972636
4006+a, cdbSNP:143750836
4007+a, cdbSNP:146407179
4054+c, gdbSNP:144350050
4076+a, cdbSNP:200894780
4102+a, gdbSNP:200451188
4154+a, gdbSNP:34694816
4156+a, cdbSNP:182004703
4185+c, gdbSNP:112105381
4220+g, tdbSNP:35869497
4233+a, cdbSNP:185821937
4237+c, tdbSNP:11882640
4308+dbSNP:
4308+a, gdbSNP:137933390
4334+c, gdbSNP:141678782
4347+c, tdbSNP:187496208
4366+c, gdbSNP:146206507
4367+a, gdbSNP:139142846
4387+c, tdbSNP:36042816
4389+a, gdbSNP:150499158
4399+c, tdbSNP:2229141
4414+c, tdbSNP:139622869
4422+c, tdbSNP:191656849
4435+dbSNP:
4435+c, tdbSNP:199864631
4436+a, gdbSNP:200289457
4441+a, gdbSNP:113831421
4491+c, tdbSNP:149737658
4530+a, gdbSNP:145573319
4535+c, tdbSNP:200546266
4573+c, tdbSNP:141317474
4596+dbSNP:
4596+a, gdbSNP:34404839
4637+a, gdbSNP:144747878
4663+a, gdbSNP:147901772
4687+a, gdbSNP:199988678
4780+dbSNP:
4780+c, tdbSNP:200600174
4807+c, tdbSNP:186329476
4841+dbSNP:
4841+a, gdbSNP:146429605
4849+a, gdbSNP:35480887
4859+a, gdbSNP:118192120
4893+c, tdbSNP:151029675
4905+c, tdbSNP:193922777
4971+c, tdbSNP:78349583
4988+a, gdbSNP:190382569
4990+c, tdbSNP:200979691
5024+c, tdbSNP:76537615
5064+a, gdbSNP:193922778
5101+dbSNP:
5101+c, tdbSNP:141107290
5109+c, gdbSNP:200625526
5129+c, tdbSNP:144157950
5130+a, gdbSNP:138978909
5166+a, gdbSNP:146504767
5167+c, gdbSNP:34169029
5176+c, tdbSNP:188554722
5239+a, cdbSNP:200556164
5240+a, gdbSNP:193922779
5242+c, tdbSNP:35352076
5312+c, tdbSNP:193922780
5313+c, tdbSNP:193922781
5316+g, tdbSNP:193922782
5352+c, gdbSNP:113916242
5365+a, gdbSNP:149471411
5417+c, tdbSNP:202225176
5447+c, tdbSNP:192863857
5451+c, tdbSNP:199837883
5463+a, cdbSNP:367543055
5464+g, tdbSNP:35566549
5490+c, tdbSNP:34934920
5494+g, tdbSNP:200950362
5514+c, tdbSNP:141379562
5557+c, gdbSNP:201086478
5569+a, gdbSNP:147424734
5571+a, tdbSNP:193922783
5591+g, tdbSNP:139709595
5617+c, tdbSNP:145224633
5618+a, gdbSNP:147603571
5623+g, tdbSNP:140004449
5625+c, gdbSNP:193922784
5695+c, tdbSNP:61750975
5749+a, gdbSNP:193922785
5752+a, gdbSNP:35021937
5764+c, gdbSNP:114203198
5767+c, tdbSNP:143418190
5770+a, gdbSNP:146875363
5880+a, gdbSNP:201623919
5903+a, gdbSNP:140696033
5927+g, tdbSNP:183999225
5999+dbSNP:
5999+a, tdbSNP:192932788
6020+c, tdbSNP:145801146
6034+a, gdbSNP:138391613
6055+a, cdbSNP:141689968
6068+, cdbSNP:193922786
6118+c, tdbSNP:193922787
6153+dbSNP:
6153+c, tdbSNP:199947661
6169+a, gdbSNP:2228068
6208+a, gdbSNP:201310026
6234+a, tdbSNP:367543056
6276+dbSNP:
6276+a, gdbSNP:200706743
6279+a, gdbSNP:201098779
6308+g, tdbSNP:35364374
6321+g, tdbSNP:200388510
6331+a, gdbSNP:149243437
6341+c, tdbSNP:147441124
6342+a, gdbSNP:139775280
6381+a, gdbSNP:143681974
6473+dbSNP:
6473+a, gdbSNP:147197176
6479+c, gdbSNP:193922788
6482+c, tdbSNP:148660840
6483+c, gdbSNP:201649680
6514+c, tdbSNP:75181912
6517+c, g, tdbSNP:117886618
6518+a, gdbSNP:193922789
6526+a, tdbSNP:181419618
6552+c, tdbSNP:201293931
6562+c, tdbSNP:151063086
6574+c, tdbSNP:200381338
6598+c, gdbSNP:139714680
6608+a, gdbSNP:143398211
6617+c, tdbSNP:118192175
6618+a, c, gdbSNP:118192163
6628+c, tdbSNP:151313865
6632+a, gdbSNP:118192176
6670+a, gdbSNP:146773090
6674+a, tdbSNP:193922790
6715+dbSNP:
6715+a, gdbSNP:140729728
6729+c, tdbSNP:193922791
6737+a, gdbSNP:200203904
6742+c, g, tdbSNP:141646642
6745+a, gdbSNP:181195904
6747+c, g, tdbSNP:118192177
6758+g, tdbSNP:193922792
6765+a, c, tdbSNP:193922793
6770+a, gdbSNP:193922795
6775+c, tdbSNP:146617004
6784+c, tdbSNP:149185729
6785+a, gdbSNP:185754956
6799+dbSNP:
6799+c, tdbSNP:193922796
6800+c, tdbSNP:199870223
6818+a, tdbSNP:200630616
6830+c, tdbSNP:201465595
6847+c, tdbSNP:143102497
6851+c, tdbSNP:200563280
6862+a, gdbSNP:78915828
6873+a, gdbSNP:140152019
6919+c, tdbSNP:112051106
6943+dbSNP:
6943+a, gdbSNP:147786842
6967+c, tdbSNP:201803186
6968+a, gdbSNP:193922797
6977+a, cdbSNP:118192121
7062+dbSNP:
7062+c, tdbSNP:137871773
7091+a, gdbSNP:34390345
7137+a, gdbSNP:112563513
7150+c, tdbSNP:199993301
7155+a, gdbSNP:147213895
7156+c, tdbSNP:202061237
7159+dbSNP:
7159+c, tdbSNP:138617219
7162+c, gdbSNP:193922798
7166+a, gdbSNP:193922799
7169..7171+, gagdbSNP:121918596
7172..7174+, gagdbSNP:193922800
7173+a, gdbSNP:193922801
7177+c, tdbSNP:149295336
7178+a, gdbSNP:193922802
7193+c, tdbSNP:193922803
7194+a, gdbSNP:144526634
7215+a, gdbSNP:193922804
7219+c, tdbSNP:2228071
7220+g, tdbSNP:193922805
7227+c, gdbSNP:193922806
7228+c, tdbSNP:2229147
7229+a, gdbSNP:146306934
7232+c, tdbSNP:139498212
7254+c, gdbSNP:193922807
7271+a, gdbSNP:148426762
7283+c, tdbSNP:202111332
7303+a, gdbSNP:151115554
7339+c, tdbSNP:78795178
7340+a, gdbSNP:111364296
7358+dbSNP:
7358+a, cdbSNP:201820881
7359+c, tdbSNP:145787667
7374+a, gdbSNP:201584482
7390+c, tdbSNP:12973632
7391+c, gdbSNP:193922808
7398+a, tdbSNP:118192174
7411+c, tdbSNP:77310009
7412+a, gdbSNP:193922809
7421+a, g, tdbSNP:193922810
7423+c, tdbSNP:200482860
7430+a, gdbSNP:121918593
7434+a, g, tdbSNP:28933396
7440+c, tdbSNP:193922812
7447+c, gdbSNP:193922813
7450+g, tdbSNP:137938867
7451+c, gdbSNP:142422765
7474+dbSNP:
7474+c, tdbSNP:199813873
7479+c, tdbSNP:141959437
7484+c, tdbSNP:118192124
7485+a, gdbSNP:193922815
7488+c, tdbSNP:118192123
7490+c, tdbSNP:193922816
7491+a, gdbSNP:118192122
7502+c, tdbSNP:28933397
7503+a, gdbSNP:121918594
7533+a, gdbSNP:146252940
7540+c, tdbSNP:148275452
7555+a, gdbSNP:35512081
7559+c, tdbSNP:200042399
7563+a, cdbSNP:141298868
7612+dbSNP:
7612+c, tdbSNP:201375572
7613+a, gdbSNP:200291321
7617+c, tdbSNP:193922817
7630+a, g, tdbSNP:2228072
7652+c, g, tdbSNP:118192178
7653+a, gdbSNP:193922818
7657+a, gdbSNP:2071088
7658+c, tdbSNP:193922819
7714+c, tdbSNP:1465698
7738+a, gdbSNP:201686887
7761+dbSNP:
7761+c, gdbSNP:146326299
7765+c, gdbSNP:193922820
7778+c, gdbSNP:193922821
7783+c, tdbSNP:201166038
7796+c, tdbSNP:138925222
7806+a, tdbSNP:139564550
7813+c, tdbSNP:144196095
7850+c, tdbSNP:144203769
7857+c, tdbSNP:202144554
7867+a, gdbSNP:114975624
7894+c, tdbSNP:142441461
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7917+c, tdbSNP:193922824
7918+c, tdbSNP:199636890
7927+a, gdbSNP:151309597
7929+a, gdbSNP:201749008
7939+c, tdbSNP:200542387
7949+c, tdbSNP:199802423
7957+a, gdbSNP:201827284
7960+c, tdbSNP:140063541
7974+dbSNP:
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7978+c, gdbSNP:200708363
7990+a, gdbSNP:147587000
7993+c, tdbSNP:2229142
8002+c, g, tdbSNP:1469698
8006+c, tdbSNP:145446438
8008+a, gdbSNP:148907377
8011+a, gdbSNP:201877620
8018+c, gdbSNP:193922825
8023+c, tdbSNP:143594614
8026+c, gdbSNP:201090618
8032+a, cdbSNP:148041292
8053+c, gdbSNP:142558977
8063+dbSNP:
8063+a, gdbSNP:201754005
8079+a, gdbSNP:145733990
8088+a, gdbSNP:199864636
8106+c, tdbSNP:138325444
8107+a, gdbSNP:2229144
8122+c, tdbSNP:150620191
8156+c, tdbSNP:193922826
8203+dbSNP:
8203+c, tdbSNP:202160739
8204+a, gdbSNP:201847439
8215+c, gdbSNP:139673296
8223+c, tdbSNP:185021599
8248+c, tdbSNP:2960340
8285+c, tdbSNP:200920798
8318+c, gdbSNP:193922827
8319+a, gdbSNP:112196644
8320+c, tdbSNP:2915951
8328+a, gdbSNP:193922828
8419+dbSNP:
8419+c, tdbSNP:145567931
8420+a, gdbSNP:193922829
8457+dbSNP:
8457+c, tdbSNP:147707463
8467+a, gdbSNP:2915952
8490+c, gdbSNP:35180584
8491+c, tdbSNP:77216903
8503+c, gdbSNP:140069724
8506+a, gdbSNP:150388417
8512+c, tdbSNP:146514343
8544+dbSNP:
8544+a, cdbSNP:201903618
8635+a, tdbSNP:144777676
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8648+c, tdbSNP:193922830
8711+dbSNP:
8711+a, gdbSNP:138647599
8719+c, tdbSNP:2229146
8730+a, tdbSNP:193922831
8768+dbSNP:
8768+a, gdbSNP:112772310
8801+a, cdbSNP:146793133
8833+dbSNP:
8833+c, gdbSNP:148311475
8863+a, cdbSNP:200427576
8946+a, gdbSNP:118192125
8957+dbSNP:
8957+a, gdbSNP:79294840
8971+c, tdbSNP:200982346
9079+dbSNP:
9079+c, tdbSNP:116537677
9193+dbSNP:
9193+a, gdbSNP:200068725
9223+c, tdbSNP:140197877
9226+a, tdbSNP:144067910
9278+dbSNP:
9278+a, gdbSNP:200797340
9282+a, gdbSNP:147303895
9284+c, tdbSNP:200149784
9316+dbSNP:
9316+a, gdbSNP:2071089
9328+c, gdbSNP:201863144
9372+dbSNP:
9372+c, tdbSNP:147012990
9391+c, tdbSNP:56338790
9392+a, gdbSNP:145044872
9429+c, tdbSNP:148412985
9440+a, gdbSNP:193922832
9462+a, gdbSNP:201145095
9477+c, tdbSNP:200238436
9483+c, tdbSNP:2915960
9484+a, gdbSNP:146408926
9485+c, tdbSNP:61739911
9486+a, gdbSNP:193922833
9515+c, tdbSNP:143445685
9544+a, gdbSNP:116130182
9596+a, gdbSNP:150230127
9607+dbSNP:
9607+c, tdbSNP:139409128
9649+c, tdbSNP:138815601
9685+dbSNP:
9685+c, gdbSNP:201080180
9746+c, gdbSNP:191357389
9764+a, gdbSNP:185371036
9765+a, gdbSNP:199738299
9772+c, tdbSNP:200736343
9779+c, tdbSNP:113422327
9802+g, tdbSNP:199644190
9820+dbSNP:
9820+a, gdbSNP:2304151
9843+a, gdbSNP:200950673
9853+c, tdbSNP:199828145
9901+c, tdbSNP:75991872
9915+a, gdbSNP:200855514
9926+a, cdbSNP:201588259
9928+a, gdbSNP:188176550
9930+c, tdbSNP:200375946
9931+a, gdbSNP:138263729
9989+c, tdbSNP:201276068
9998+a, gdbSNP:112151058
10004+c, tdbSNP:144135230
10012+c, tdbSNP:142610625
10101+c, tdbSNP:141515745
10108+a, cdbSNP:367543057
10139+c, gdbSNP:200296387
10155+dbSNP:
10155+c, tdbSNP:201501834
10172+c, gdbSNP:118204421
10173+a, gdbSNP:193922834
10176+c, gdbSNP:199531105
10178+a, cdbSNP:200355885
10216+c, tdbSNP:193922835
10227+a, gdbSNP:137932199
10230+a, gdbSNP:118192126
10249+a, gdbSNP:140689610
10303+a, gdbSNP:199765885
10318+c, tdbSNP:2229145
10319+a, gdbSNP:201339536
10334+g, tdbSNP:367543058
10348+c, tdbSNP:41274330
10349+a, gdbSNP:143533100
10364+c, tdbSNP:146754065
10370+c, tdbSNP:148892609
10371+a, gdbSNP:142618623
10404+dbSNP:
10404+c, tdbSNP:150977342
10473+c, tdbSNP:193922836
10488+dbSNP:
10488+a, gdbSNP:187802601
10583+dbSNP:
10583+c, tdbSNP:199895006
10622+dbSNP:
10622+c, gdbSNP:201358408
10625+c, tdbSNP:147058802
10626+c, gdbSNP:138324438
10694+c, tdbSNP:200144997
10709+c, tdbSNP:118192164
10714+c, tdbSNP:142340057
10731+c, tdbSNP:146914779
10746+a, gdbSNP:143987857
10774+dbSNP:
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10794+a, tdbSNP:199689862
10866+dbSNP:
10866+c, tdbSNP:144797677
10872+a, gdbSNP:148130880
10875+a, gdbSNP:142491855
10877+c, gdbSNP:55876273
10882+a, gdbSNP:202245843
10919+a, cdbSNP:200994404
10923+a, tdbSNP:139834926
10933+c, tdbSNP:141542477
10947+c, tdbSNP:118192127
11071+dbSNP:
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11105+c, gdbSNP:139211752
11128+c, tdbSNP:149949301
11153+c, gdbSNP:145026307
11221+dbSNP:
11221+c, tdbSNP:201296563
11250+g, tdbSNP:193922838
11314+dbSNP:
11314+c, tdbSNP:111200476
11347+dbSNP:
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11381+c, tdbSNP:201803539
11396+dbSNP:
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11399+a, gdbSNP:189249768
11413+a, gdbSNP:142386815
11445+a, gdbSNP:193922839
11451+c, tdbSNP:146361173
11546+dbSNP:
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11647+dbSNP:
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11648+a, gdbSNP:140616359
11658+c, tdbSNP:150478499
11677+a, gdbSNP:142518033
11686+c, tdbSNP:142947855
11687+a, gdbSNP:145087576
11708+a, gdbSNP:199737015
11729+dbSNP:
11729+c, tdbSNP:138593495
11755+dbSNP:
11755+a, gdbSNP:61729397
11800+c, tdbSNP:144452106
11821+dbSNP:
11821+c, tdbSNP:201588544
11838+a, gdbSNP:148399313
11842+a, gdbSNP:199855195
11853+a, gdbSNP:141803364
11861+a, gdbSNP:200622493
11865+a, tdbSNP:150588606
11878+g, tdbSNP:193922840
11884+a, tdbSNP:45613041
11908+a, gdbSNP:193922841
11928+dbSNP:
11928+a, gdbSNP:147136339
12052+dbSNP:
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12071+c, tdbSNP:148772854
12083+c, tdbSNP:118204422
12088+c, gdbSNP:193922842
12099+g, tdbSNP:193922843
12193+dbSNP:
12193+c, tdbSNP:140836772
12229+dbSNP:
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12238+c, tdbSNP:189263702
12251+c, tdbSNP:144685735
12279+a, cdbSNP:193922844
12317+a, gdbSNP:181968345
12333+a, gdbSNP:114009747
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12465+dbSNP:
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12475+a, cdbSNP:148923077
12485+a, tdbSNP:193922848
12528+a, gdbSNP:201321695
12536+a, cdbSNP:193922849
12539+a, gdbSNP:200312759
12543+c, tdbSNP:193922850
12559+a, gdbSNP:112288982
12579+c, gdbSNP:143843083
12683+a, gdbSNP:151119428
12718+c, tdbSNP:61739895
12727+c, tdbSNP:145121064
12729+a, tdbSNP:199660276
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12770..12817+dbSNP:118192128
12770..12778+, cgccagttcdbSNP:118192165
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12830+c, gdbSNP:193922852
12871+c, tdbSNP:80039127
12880+c, tdbSNP:113553675
12930+a, cdbSNP:201315104
12978+a, tdbSNP:193922853
13009+c, gdbSNP:193922854
13014+c, tdbSNP:193922855
13098..13099+, gcggcggctdbSNP:193922846
13116+a, cdbSNP:118192129
13120+c, tdbSNP:184450380
13143..13162+, cagcagtgacgcgcgctgggdbSNP:193922856
13163+c, gdbSNP:12981200
13189+c, gdbSNP:112906851
13384+a, cdbSNP:193922857
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13447+c, tdbSNP:113579185
13593+dbSNP:
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13594+a, gdbSNP:10405232
13600+a, gdbSNP:193922858
13607+c, gdbSNP:149455643
13610+a, g, tdbSNP:143849895
13614+c, tdbSNP:138929547
13632+c, tdbSNP:73933023
13633+a, gdbSNP:2960319
13635+a, gdbSNP:139647387
13639+a, gdbSNP:193922859
13643+c, gdbSNP:150396398
13660+dbSNP:
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13670+g, tdbSNP:139285170
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13733+a, gdbSNP:141444745
13747+c, tdbSNP:2302296
13758+g, tdbSNP:200002274
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13801+dbSNP:
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13833+c, tdbSNP:118192131
13890+dbSNP:
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13903+c, tdbSNP:111578044
13906+c, tdbSNP:200427549
13977+a, cdbSNP:59468283
13979+a, gdbSNP:202226983
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14030+a, gdbSNP:118192133
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14064+a, gdbSNP:193922860
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14071..14076+, gagcctdbSNP:193922861
14079+c, tdbSNP:118192138
14082+a, cdbSNP:118192139
14124..14125+ct, tcdbSNP:193922862
14132+dbSNP:
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14181+c, tdbSNP:193922864
14191+a, gdbSNP:201629205
14200+a, gdbSNP:113058779
14221+c, tdbSNP:138616455
14256+c, tdbSNP:118192140
14262+dbSNP:
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14297+c, tdbSNP:200473035
14298+a, gdbSNP:200766617
14300+a, cdbSNP:118192141
14326+dbSNP:
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14327+g, tdbSNP:193922865
14331+a, gdbSNP:193922866
14339+c, tdbSNP:193922867
14340+a, gdbSNP:193922868
14358+a, gdbSNP:193922869
14386+a, cdbSNP:1468571
14387+a, gdbSNP:138156449
14413+a, gdbSNP:201157293
14415+c, tdbSNP:146793368
14446+dbSNP:
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14493+a, gdbSNP:200002533
14494+c, tdbSNP:200927402
14508+dbSNP:
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14517+a, gdbSNP:118192167
14540+c, tdbSNP:193922871
14552+a, tdbSNP:193922872
14570+c, tdbSNP:118192142
14579+a, g, tdbSNP:143988412
14581+c, tdbSNP:200442804
14588+g, tdbSNP:193922873
14598+c, tdbSNP:148540135
14601+c, tdbSNP:193922874
14603+c, tdbSNP:118192180
14604+c, gdbSNP:193922875
14607+c, tdbSNP:121918595
14627+c, tdbSNP:193922876
14635+a, gdbSNP:118126378
14640+, adbSNP:193922877
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14654+a, gdbSNP:193922879
14667+c, tdbSNP:118192143
14675+a, gdbSNP:118192168
14697+c, gdbSNP:193922880
14702+a, gdbSNP:118192144
14708..14710+, ttcdbSNP:118192145
14708+g, tdbSNP:193922881
14711+c, tdbSNP:118192181
14712+a, gdbSNP:63749869
14717..14737+, ttctacaacaagagcgaggatdbSNP:118192169
14718..14735+, tctacaacaagagcgaggdbSNP:193922882
14719+c, tdbSNP:146072491
14721+a, gdbSNP:118192146
14732+a, gdbSNP:187569997
14757+a, gdbSNP:113210953
14769+c, tdbSNP:193922883
14775+c, tdbSNP:193922884
14789+dbSNP:
14789+c, tdbSNP:118192147
14797+c, gdbSNP:193922887
14801+c, gdbSNP:118192149
14807+c, g, tdbSNP:118192150
14808+a, c, gdbSNP:118192151
14810+a, c, gdbSNP:193922888
14811+c, tdbSNP:193922890
14820+g, tdbSNP:118192148
14823+c, tdbSNP:118192170
14825+a, gdbSNP:193922891
14826+a, gdbSNP:118192183
14847+c, tdbSNP:118192153
14870+a, gdbSNP:118192184
14871+c, gdbSNP:118192154
14875+c, gdbSNP:143953743
14889+a, cdbSNP:118192155
14891..14892+ac, ttdbSNP:118192171
14892+c, tdbSNP:118192156
14909..14917+, gtcatcctgdbSNP:118192157
14909..14914+, gtcatcdbSNP:193922893
14909+g, tdbSNP:193922892
14943+dbSNP:
14943+c, tdbSNP:111657878
14944+c, gdbSNP:118192159
14947+a, cdbSNP:193922895
14948+a, gdbSNP:118192158
14955+g, tdbSNP:193922896
14983+a, gdbSNP:199705005
15009+dbSNP:
15009+a, tdbSNP:193922898
15022+a, cdbSNP:2302297
15031+c, gdbSNP:201712715
15045+c, tdbSNP:199866740
15048+c, tdbSNP:146876145
15059+c, gdbSNP:200777598
15145+a, gdbSNP:2229149
15228+dbSNP:
15228+a, gdbSNP:201765762
15239+c, tdbSNP:140584202
15244..15245+, tdbSNP:36094657
15276+, cdbSNP:35418546
15382+c, tdbSNP:188314477
Gene SymbolRYR1
Gene SynonymCCO; MHS; MHS1; RYDR; RYR; RYR-1; SKRR
Chromosome19
Locus Map19q13.1
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000540 Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. Full Length Quote
ORF Sequence Quote
NM_001042723 Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 2, mRNA. Full Length Quote
ORF Sequence Quote
Title Characterization of the molecular architecture of human caveolin-3 and interaction with the skeletal muscle ryanodine receptor .
Author Whiteley,G., Collins,R.F. and Kitmitto,A.
Journal J. Biol. Chem. 287 (48), 40302-40316 (2012)
Title Bidirectional coupling between ryanodine receptors and Ca2+ release-activated Ca2+ (CRAC) channel machinery sustains store-operated Ca2+ entry in human T lymphocytes .
Author Thakur,P., Dadsetan,S. and Fomina,A.F.
Journal J. Biol. Chem. 287 (44), 37233-37244 (2012)
Title Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation .
Author Bohm,J., Leshinsky-Silver,E., Vassilopoulos,S., Le Gras,S., Lerman-Sagie,T., Ginzberg,M., Jost,B., Lev,D. and Laporte,J.
Journal Acta Neuropathol. 124 (4), 575-581 (2012)
Title Identification of ryanodine receptor isoforms in prostate DU-145, LNCaP, and PWR-1E cells .
Author Kobylewski,S.E., Henderson,K.A. and Eckhert,C.D.
Journal Biochem. Biophys. Res. Commun. 425 (2), 431-435 (2012)
Title Intense resistance exercise induces early and transient increases in ryanodine receptor 1 phosphorylation in human skeletal muscle .
Author Gehlert,S., Bungartz,G., Willkomm,L., Korkmaz,Y., Pfannkuche,K., Schiffer,T., Bloch,W. and Suhr,F.
Journal PLoS ONE 7 (11), E49326 (2012)
Title Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia .
Author Gillard,E.F., Otsu,K., Fujii,J., Duff,C., de Leon,S., Khanna,V.K., Britt,B.A., Worton,R.G. and MacLennan,D.H.
Journal Genomics 13 (4), 1247-1254 (1992)
Title Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia .
Author Otsu,K., Phillips,M.S., Khanna,V.K., de Leon,S. and MacLennan,D.H.
Journal Genomics 13 (3), 835-837 (1992)
Title FK506 binding protein associated with the calcium release channel (ryanodine receptor) .
Author Jayaraman,T., Brillantes,A.M., Timerman,A.P., Fleischer,S., Erdjument-Bromage,H., Tempst,P. and Marks,A.R.
Journal J. Biol. Chem. 267 (14), 9474-9477 (1992)
Title A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia .
Author Gillard,E.F., Otsu,K., Fujii,J., Khanna,V.K., de Leon,S., Derdemezi,J., Britt,B.A., Duff,C.L., Worton,R.G. and MacLennan,D.H.
Journal Genomics 11 (3), 751-755 (1991)
Title Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia .
Author Fujii,J., Otsu,K., Zorzato,F., de Leon,S., Khanna,V.K., Weiler,J.E., O'Brien,P.J. and MacLennan,D.H.
Journal Science 253 (5018), 448-451 (1991)

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