• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


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


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu28136 Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand TBD TBD
OHu28136C Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, 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_000540.2, 113204614
Length 15117 bp
Structure linear
Update Date 15-JUN-2014
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)758..919
Misc Feature(4)761..1297
Misc Feature(5)938..1204
Misc Feature(6)1448..2059
Misc Feature(7)2054..2509
Misc Feature(8)2651..9007
Misc Feature(9)2675..2959
Misc Feature(10)3017..3301
Misc Feature(11)3344..3742
Misc Feature(12)4382..4828
Misc Feature(13)6599..7225
Misc Feature(14)8330..8608
Misc Feature(15)8657..8659
Misc Feature(16)8657..8659
Misc Feature(17)8657..8659
Misc Feature(18)8690..8956
Misc Feature(19)9365..9367
Misc Feature(20)10970..11059
Misc Feature(21)11033..11035
Misc Feature(22)11033..11035
Misc Feature(23)11738..12106
Misc Feature(24)12377..12529
Misc Feature(25)13109..13171
Misc Feature(26)13172..13234
Misc Feature(27)13274..14143
Misc Feature(28)13808..13870
Misc Feature(29)14084..14146
Misc Feature(30)14471..14533
Misc Feature(31)14477..14941
Misc Feature(32)14552..14614
Misc Feature(33)14648..14710
Misc Feature(34)14720..14722
Misc Feature(35)14729..14731
Misc Feature(36)14891..14953
Exon (1)1..175
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (2)176..295
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (3)296..400
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (4)401..475
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (5)476..554
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (6)555..667
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (7)668..761
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (8)762..855
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (9)856..930
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (10)931..1087
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (11)1088..1252
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (12)1253..1374
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (13)1375..1570
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (14)1571..1706
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (15)1707..1802
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (16)1803..1921
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (17)1922..2055
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (18)2056..2297
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (19)2298..2490
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (20)2491..2707
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (21)2708..2812
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (22)2813..2916
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (23)2917..3000
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (24)3001..3308
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (25)3309..3511
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (26)3512..3686
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (27)3687..3895
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (28)3896..4290
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (29)4291..4423
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (30)4424..4584
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (31)4585..4750
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (32)4751..4837
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (33)4838..5064
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (34)5065..5677
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (35)5678..5944
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (36)5945..6145
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (37)6146..6257
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (38)6258..6404
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (39)6405..6678
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (40)6679..6793
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (41)6794..6926
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (42)6927..7021
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (43)7022..7157
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (44)7158..7344
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (45)7345..7453
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (46)7454..7574
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (47)7575..7744
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (48)7745..7965
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (49)7966..8056
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (50)8057..8197
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (51)8198..8361
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (52)8362..8440
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (53)8441..8530
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (54)8531..8671
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (55)8672..8746
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (56)8747..8822
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (57)8823..8946
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (58)8947..9062
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (59)9063..9130
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (60)9131..9252
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (61)9253..9302
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (62)9303..9363
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (63)9364..9602
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (64)9603..9684
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (65)9685..9815
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (66)9816..10148
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (67)10149..10389
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (68)10390..10477
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (69)10478..10570
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (70)10571..10585
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (71)10586..10756
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (72)10757..10816
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (73)10817..10954
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (74)10955..11067
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (75)11068..11164
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (76)11165..11271
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (77)11272..11323
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (78)11324..11389
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (79)11390..11489
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (80)11490..11569
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (81)11570..11646
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (82)11647..11720
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (83)11721..11738
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (84)11739..11819
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (85)11820..11908
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (86)11909..12037
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (87)12038..12142
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (88)12143..12224
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (89)12225..12412
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (90)12413..12754
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (91)12755..13567
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (92)13568..13644
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (93)13645..13789
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (94)13790..13876
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (95)13877..14128
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (96)14129..14259
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (97)14260..14302
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (98)14303..14433
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (99)14434..14494
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (100)14495..14641
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (101)14642..14776
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (102)14777..14933
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (103)14934..14998
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (104)14999..15099
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (105)15100..15151
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Exon (106)15152..15391
Gene:RYR1
Gene Synonym:CCO; MHS; MHS1; PPP1R137; 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
57..58+, agdbSNP:377464651
100+c, tdbSNP:375755030
105+c, gdbSNP:377233396
164+c, tdbSNP:370115856
165..167+cg, tccdbSNP:193922743
168+g, tdbSNP:193922744
170+c, tdbSNP:200665559
175+a, gdbSNP:200117623
181..183+dbSNP:
181..183+, tgadbSNP:193922745
208+c, tdbSNP:372508199
209+a, gdbSNP:143481004
219+a, tdbSNP:145771708
224+c, tdbSNP:138630815
227+a, gdbSNP:193922746
233+c, tdbSNP:193922747
241+c, tdbSNP:142909076
242+g, tdbSNP:377558801
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
354+a, gdbSNP:368516354
381+c, tdbSNP:186983396
394+c, tdbSNP:190919088
412+dbSNP:
412+c, tdbSNP:139629035
426+c, tdbSNP:371406719
427+a, gdbSNP:144241486
455+c, tdbSNP:118192173
492+dbSNP:
492+c, gdbSNP:371874847
506+a, gdbSNP:146065960
526+c, tdbSNP:376494617
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
676+dbSNP:
676+a, gdbSNP:372660267
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
951+dbSNP:
951+c, gdbSNP:368711923
955+g, tdbSNP:138687891
961+c, gdbSNP:34004552
975+a, gdbSNP:201164249
980+a, gdbSNP:201388370
988+c, tdbSNP:371674175
989+a, c, gdbSNP:201292282
1002+c, tdbSNP:200572262
1003+a, gdbSNP:2229140
1009+c, tdbSNP:371599963
1027+c, gdbSNP:76854339
1036+c, tdbSNP:145943283
1037+a, gdbSNP:141764906
1041+a, gdbSNP:368379696
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
1217+c, tdbSNP:367995800
1229+c, tdbSNP:140037232
1230+a, g, tdbSNP:113332073
1246+a, gdbSNP:193922763
1256+dbSNP:
1256+a, gdbSNP:376652821
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
1461+c, tdbSNP:369620902
1502+g, tdbSNP:369932139
1514+a, gdbSNP:199592055
1540+g, tdbSNP:372952440
1549+a, cdbSNP:200298392
1552+g, tdbSNP:193922767
1574+dbSNP:
1574+a, tdbSNP:372809720
1583+a, gdbSNP:147723844
1604+c, tdbSNP:199826952
1654+a, gdbSNP:371014065
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
1756+c, tdbSNP:372678438
1760+g, tdbSNP:113812662
1784+c, tdbSNP:193922770
1798+a, gdbSNP:2288888
1869+dbSNP:
1869+a, gdbSNP:373301841
1872..1873+, atcadbSNP:193922771
1876+c, tdbSNP:377489549
1883+a, gdbSNP:200770015
1911+a, gdbSNP:183860084
1918+c, tdbSNP:369299704
1925+dbSNP:
1925+c, gdbSNP:190885369
1930+c, tdbSNP:374489703
1964+c, gdbSNP:118204423
1970+c, tdbSNP:118192172
1971+a, 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+c, tdbSNP:78835441
2175+a, gdbSNP:372513400
2195+a, gdbSNP:144845360
2221+c, tdbSNP:138704724
complement(2224)-t, cdbSNP:149942213
2246+a, gdbSNP:141717554
2249+a, gdbSNP:376526576
2251+a, cdbSNP:146104858
2252+a, gdbSNP:138874610
2290+c, gdbSNP:200914778
2303+dbSNP:
2303+a, gdbSNP:200698933
2310+a, gdbSNP:372460800
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
2407+c, tdbSNP:377182661
2416+a, gdbSNP:386585329
2417+g, tdbSNP:369947687
2420+c, tdbSNP:371455345
2449+c, tdbSNP:374924686
2450+a, gdbSNP:147918857
2486+a, gdbSNP:369281291
2496+dbSNP:
2496+a, gdbSNP:200069592
2514+a, gdbSNP:201635585
2537+c, tdbSNP:373585562
2545+c, tdbSNP:141881325
2577+c, tdbSNP:376149732
2579+c, tdbSNP:150633775
2583+a, cdbSNP:374367026
2585+c, tdbSNP:193922774
2597+c, gdbSNP:370490388
2616+a, gdbSNP:372652716
2618+c, tdbSNP:142548565
2620+a, gdbSNP:150934716
2630+c, tdbSNP:140686309
2652+c, tdbSNP:368051427
2658+g, tdbSNP:144911352
2661+a, gdbSNP:146754847
2663+c, tdbSNP:201545585
2667+c, tdbSNP:193922775
2674+c, tdbSNP:140374285
2675+a, gdbSNP:200893443
2681+a, gdbSNP:375669412
2718+dbSNP:
2718+c, tdbSNP:145456934
2722+c, tdbSNP:199541173
2724+a, tdbSNP:371862065
2732+c, tdbSNP:138020885
2741+a, gdbSNP:267605463
2752+a, gdbSNP:149381996
2764+c, tdbSNP:202233201
2775+c, tdbSNP:143701391
2776+a, gdbSNP:375163703
2778+a, tdbSNP:369665716
2784+a, gdbSNP:370634440
2788+c, tdbSNP:148094797
2792+c, tdbSNP:141838633
2806+c, tdbSNP:375402078
2807+a, gdbSNP:147336515
2810+a, cdbSNP:111976711
2816+dbSNP:
2816+c, tdbSNP:371050482
2817+a, gdbSNP:147515913
2827+a, cdbSNP:201401814
2831+a, gdbSNP:374492243
2842+a, gdbSNP:139339574
2897+a, gdbSNP:149913097
2899+a, gdbSNP:144935444
2927+dbSNP:
2927+a, gdbSNP:148623597
2942+a, gdbSNP:369182023
2984+a, tdbSNP:372468731
3000+c, tdbSNP:201827275
3027+dbSNP:
3027+c, tdbSNP:143179371
3034+a, gdbSNP:146651758
3049+c, tdbSNP:139363830
3053+c, tdbSNP:371278145
3060+c, tdbSNP:375865052
3063+c, tdbSNP:200124278
3073+c, tdbSNP:386429509
3086+c, tdbSNP:150993059
3109+c, tdbSNP:2228070
3117+c, tdbSNP:367860207
3125+c, tdbSNP:150442096
3126+a, gdbSNP:180714609
3127+c, tdbSNP:371603625
3128+a, gdbSNP:138209392
3151+c, tdbSNP:143891703
3172+a, gdbSNP:2228074
3173+c, tdbSNP:139006437
3177+a, gdbSNP:373541911
3182+c, gdbSNP:143331857
3195+c, tdbSNP:144830213
3201+a, gdbSNP:148146893
3208+g, tdbSNP:370965955
3224+c, tdbSNP:374477216
3225+a, gdbSNP:141942845
3226+c, tdbSNP:150546099
3233+c, tdbSNP:368384162
3241+c, tdbSNP:145434723
3257+c, tdbSNP:111272095
3258+a, gdbSNP:374776563
3274+c, tdbSNP:143242075
3286+c, tdbSNP:368131832
3330+dbSNP:
3330+a, gdbSNP:377381782
3338+c, tdbSNP:368950468
3341+a, gdbSNP:146188106
3382+c, tdbSNP:144164620
3386+c, tdbSNP:373618219
3416+a, gdbSNP:187528159
3431+a, gdbSNP:145088074
3441+c, tdbSNP:149096607
3448+a, cdbSNP:377584912
3456+a, gdbSNP:35719391
3481+c, tdbSNP:151182947
3501+a, gdbSNP:377285238
3511+c, tdbSNP:200780880
3519+dbSNP:
3519+a, gdbSNP:371498385
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
3685+c, tdbSNP:377282283
3697+dbSNP:
3697+c, tdbSNP:200161205
3748+c, tdbSNP:191970833
3774+c, tdbSNP:141518670
3866+c, tdbSNP:372065867
3891+a, gdbSNP:374083094
3930+dbSNP:
3930+c, gdbSNP:150495044
3940+c, tdbSNP:202133565
3946+c, tdbSNP:372061013
3988+c, tdbSNP:16972636
3995+c, tdbSNP:377185497
4004+c, tdbSNP:369954163
4006+a, cdbSNP:143750836
4007+a, cdbSNP:146407179
4021+c, tdbSNP:371462309
4054+c, gdbSNP:144350050
4076+a, cdbSNP:200894780
4102+a, gdbSNP:200451188
4108+a, gdbSNP:368953453
4120+c, gdbSNP:372518775
4140+c, tdbSNP:376532452
4154+a, gdbSNP:34694816
4156+a, cdbSNP:182004703
4185+c, gdbSNP:112105381
4201+c, tdbSNP:375709463
4204+a, gdbSNP:372178862
4220+g, tdbSNP:35869497
4233+a, cdbSNP:185821937
4237+c, tdbSNP:11882640
4245+c, tdbSNP:370966353
4308+dbSNP:
4308+a, gdbSNP:137933390
4334+c, gdbSNP:141678782
4343+a, cdbSNP:376567445
4347+c, tdbSNP:187496208
4366+c, gdbSNP:146206507
4367+a, gdbSNP:139142846
4370+a, gdbSNP:376330174
4387+c, tdbSNP:36042816
4389+a, gdbSNP:150499158
4399+c, g, tdbSNP:2229141
4414+c, tdbSNP:139622869
4422+c, tdbSNP:191656849
4435+dbSNP:
4435+c, tdbSNP:199864631
4436+a, gdbSNP:200289457
4441+a, gdbSNP:113831421
4469+a, gdbSNP:370851779
4474+g, tdbSNP:375675447
4491+c, tdbSNP:149737658
4520+a, gdbSNP:368396727
4530+a, gdbSNP:145573319
4535+c, tdbSNP:200546266
4573+c, tdbSNP:141317474
4596+dbSNP:
4596+a, gdbSNP:34404839
4619+a, gdbSNP:367637223
4626+c, tdbSNP:371478672
4637+a, gdbSNP:144747878
4663+a, gdbSNP:147901772
4687+a, gdbSNP:199988678
4690+c, tdbSNP:376023128
4780+dbSNP:
4780+c, tdbSNP:200600174
4807+c, tdbSNP:186329476
4841+dbSNP:
4841+a, gdbSNP:146429605
4849+a, gdbSNP:35480887
4859+a, gdbSNP:118192120
4873+c, tdbSNP:370041876
4888+a, gdbSNP:374222028
4893+c, tdbSNP:151029675
4905+c, tdbSNP:193922777
4947+a, gdbSNP:368399715
4971+c, tdbSNP:78349583
4978+a, gdbSNP:377664365
4988+a, gdbSNP:190382569
4990+c, tdbSNP:200979691
5008+c, gdbSNP:369466056
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12099+g, tdbSNP:193922843
12193+dbSNP:
12193+c, tdbSNP:140836772
12229+dbSNP:
12229+c, tdbSNP:201642412
12230+a, gdbSNP:372447264
12238+c, tdbSNP:189263702
12248+a, gdbSNP:374441925
12251+c, tdbSNP:144685735
12272+c, gdbSNP:368835421
12279+a, cdbSNP:193922844
12283+a, tdbSNP:372387937
12317+a, gdbSNP:181968345
12333+a, gdbSNP:114009747
12371+a, tdbSNP:193922845
12372+c, tdbSNP:373406011
12465+dbSNP:
12465+c, tdbSNP:193922847
12475+a, cdbSNP:148923077
12484+a, gdbSNP:369455775
12485+a, tdbSNP:193922848
12486+a, tdbSNP:369637169
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
12759+dbSNP:
12759+a, gdbSNP:138932463
12770..12817+dbSNP:118192128
12770..12778+, cgccagttcdbSNP:118192165
12771+a, gdbSNP:370527763
12802+c, tdbSNP:141678912
12830+c, gdbSNP:193922852
12871+c, tdbSNP:80039127
12880+c, tdbSNP:113553675
12916+c, tdbSNP:372770916
12930+a, cdbSNP:201315104
12978+a, tdbSNP:193922853
12999..13000+, cacggcggcdbSNP:398123469
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
13318+a, gdbSNP:371061924
13384+a, cdbSNP:193922857
13393+c, tdbSNP:372411922
13396+a, gdbSNP:187674670
13447+c, tdbSNP:113579185
13471+a, gdbSNP:375750351
13573+dbSNP:
13573+c, tdbSNP:371990084
13593+c, tdbSNP:150318524
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
13642+c, tdbSNP:376229195
13643+c, gdbSNP:150396398
13660+dbSNP:
13660+a, gdbSNP:150849957
13670+g, tdbSNP:139285170
13677+a, gdbSNP:149984626
13695+c, tdbSNP:145167688
13714+c, gdbSNP:368826804
13733+a, gdbSNP:141444745
13747+c, tdbSNP:2302296
13758+g, tdbSNP:200002274
13762+a, gdbSNP:143887810
13780+c, gdbSNP:201951387
13801+dbSNP:
13801+c, gdbSNP:35959206
13803+a, gdbSNP:118192130
13810+c, tdbSNP:377664510
13829+a, gdbSNP:371441593
13833+c, tdbSNP:118192131
13890+dbSNP:
13890+c, tdbSNP:143520367
13903+c, tdbSNP:111578044
13906+c, tdbSNP:200427549
13937+c, gdbSNP:373231458
13969+a, cdbSNP:376543210
13977+a, cdbSNP:59468283
13979+a, gdbSNP:202226983
13993+a, gdbSNP:140750876
13996+c, tdbSNP:370369058
14021+a, tdbSNP:118192132
14030+a, gdbSNP:118192133
14036+a, gdbSNP:374145578
14039+a, gdbSNP:118192166
14040+c, tdbSNP:118192134
14042+a, gdbSNP:118192136
14043+a, gdbSNP:118192135
14057+a, gdbSNP:200286252
14062+g, tdbSNP:199698011
14063+c, tdbSNP:377667641
14064+a, gdbSNP:193922860
14069..14074+, ctgagcdbSNP:118192137
14071..14076+, gagcctdbSNP:193922861
14079+c, tdbSNP:118192138
14082+a, cdbSNP:118192139
14124..14125+ct, tcdbSNP:193922862
14132+dbSNP:
14132+c, tdbSNP:193922863
14143+c, tdbSNP:376175318
14181+c, tdbSNP:193922864
14191+a, gdbSNP:201629205
14200+a, gdbSNP:113058779
14221+c, tdbSNP:138616455
14236+c, gdbSNP:367605058
14256+c, tdbSNP:118192140
14259+c, tdbSNP:370212445
14262+dbSNP:
14262+c, gdbSNP:201147958
14297+c, tdbSNP:200473035
14298+a, gdbSNP:200766617
14300+a, cdbSNP:118192141
14326+dbSNP:
14326+a, cdbSNP:201670423
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
14396+a, gdbSNP:375977113
14399+c, tdbSNP:369132009
14412+c, tdbSNP:373919284
14413+a, gdbSNP:201157293
14415+c, tdbSNP:146793368
14444+dbSNP:
14444+a, gdbSNP:371953926
14446+c, tdbSNP:201838999
14493+a, gdbSNP:200002533
14494+c, tdbSNP:200927402
14508+dbSNP:
14508+c, tdbSNP:118192179
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
14599+a, gdbSNP:371955808
14601+c, tdbSNP:193922874
14603+c, tdbSNP:118192180
14604+a, c, gdbSNP:193922875
14607+c, tdbSNP:121918595
14627+c, tdbSNP:193922876
14635+a, gdbSNP:118126378
14640+, adbSNP:193922877
14642+dbSNP:
14642+c, gdbSNP:193922878
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
14731+c, tdbSNP:370469515
14732+a, gdbSNP:187569997
14757+a, gdbSNP:113210953
14769+c, tdbSNP:193922883
14771+a, tdbSNP:373387527
14773+g, tdbSNP:376677576
14775+c, tdbSNP:193922884
14789+dbSNP:
14789+c, tdbSNP:118192147
14797+c, gdbSNP:193922887
14801+c, gdbSNP:118192149
14802+a, gdbSNP:398123470
14807+c, g, tdbSNP:118192150
14808+a, c, gdbSNP:118192151
14810+a, c, gdbSNP:193922888
14811+c, tdbSNP:193922890
14815+c, tdbSNP:376144636
14820+g, tdbSNP:118192148
14823+c, tdbSNP:118192170
14825+a, gdbSNP:193922891
14826+a, gdbSNP:118192183
14837+a, gdbSNP:372418113
14847+c, g, 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
14908+c, tdbSNP:369783199
14909..14917+, gtcatcctgdbSNP:118192157
14909..14914+, gtcatcdbSNP:193922893
14909+g, tdbSNP:193922892
14943+dbSNP:
14943+c, tdbSNP:111657878
14944+c, g, tdbSNP: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
15043+a, gdbSNP:376180682
15045+c, tdbSNP:199866740
15048+c, tdbSNP:146876145
15058+a, cdbSNP:368874586
15059+c, gdbSNP:200777598
15069+c, tdbSNP:398123471
15145+a, gdbSNP:2229149
15151+c, gdbSNP:376293495
15218+dbSNP:
15218+c, tdbSNP:374070555
15228+a, gdbSNP:201765762
15239+c, tdbSNP:140584202
15244..15245+, tdbSNP:36094657
15252+a, cdbSNP:369126715
15254+c, gdbSNP:398123468
15276+, cdbSNP:35418546
15284+c, gdbSNP:368187507
15382+c, tdbSNP:188314477
Gene SymbolRYR1
Gene SynonymCCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Chromosome19
Locus Map19q13.1
Title Functional characterization of 2 known ryanodine receptor mutations causing malignant hyperthermia .
Author Schiemann AH, Paul N, Parker R, Pollock N, Bulger TF and Stowell KM.
Journal Anesth. Analg. 118 (2), 375-380 (2014)
Title RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia .
Author Shaaban S, Ramos-Platt L, Gilles FH, Chan WM, Andrews C, De Girolami U, Demer J and Engle EC.
Journal JAMA Ophthalmol 131 (12), 1532-1540 (2013)
Title Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families .
Author Kim JH, Jarvik GP, Browning BL, Rajagopalan R, Gordon AS, Rieder MJ, Robertson PD, Nickerson DA, Fisher NA and Hopkins PM.
Journal Anesthesiology 119 (5), 1054-1065 (2013)
Title Central Core Disease .
Author Malicdan,M.C.V. and Nishino,I.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Multiminicore Disease .
Author Beggs,A.H. and Agrawal,P.B.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Congenital Fiber-Type Disproportion .
Author DeChene,E.T., Kang,P.B. and Beggs,A.H.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Malignant Hyperthermia Susceptibility .
Author Rosenberg,H., Sambuughin,N., Riazi,S. and Dirksen,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 Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia .
Author Gillard EF, Otsu K, Fujii J, Duff C, de Leon S, Khanna VK, Britt BA, Worton RG and MacLennan DH.
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 MS, Khanna VK, de Leon S and MacLennan DH.
Journal Genomics 13 (3), 835-837 (1992)
Title FK506 binding protein associated with the calcium release channel (ryanodine receptor) .
Author Jayaraman T, Brillantes AM, Timerman AP, Fleischer S, Erdjument-Bromage H, Tempst P and Marks AR.
Journal J. Biol. Chem. 267 (14), 9474-9477 (1992)

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