• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_022124 Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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Related Services

RefSeq Version NM_022124.5, 284925125
Length 11134 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.
Product cadherin-23 isoform 1
Comment

Summary: This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, Jan 2010].


Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

RefSeq NP_071407.4
CDS 391..10455
Misc Feature(1)100..102
Misc Feature(2)100..102
Misc Feature(3)514..774
Misc Feature(4)514..774
Misc Feature(5)order(520..525,670..672,676..678,760..762,766..771)
Misc Feature(6)796..1083
Misc Feature(7)order(817..822,970..972,976..978,1072..1074,1078..1083)
Misc Feature(8)1108..1422
Misc Feature(9)order(1129..1134,1288..1290,1294..1296,1408..1410,
Misc Feature(10)1444..1758
Misc Feature(11)order(1465..1470,1648..1650,1654..1656,1744..1746,
Misc Feature(12)1783..2061
Misc Feature(13)order(1801..1806,1954..1956,1960..1962,2047..2049,
Misc Feature(14)2086..2391
Misc Feature(15)order(2104..2109,2272..2274,2278..2280,2377..2379,
Misc Feature(16)2416..2712
Misc Feature(17)order(2434..2439,2593..2595,2599..2601,2698..2700,
Misc Feature(18)2734..3048
Misc Feature(19)order(2755..2760,2911..2913,2917..2919,3034..3036,
Misc Feature(20)3070..3360
Misc Feature(21)order(3091..3096,3250..3252,3256..3258,3349..3351,
Misc Feature(22)3385..3684
Misc Feature(23)order(3406..3411,3565..3567,3571..3573,3670..3672,
Misc Feature(24)3706..3999
Misc Feature(25)order(3727..3732,3889..3891,3895..3897,3988..3990,
Misc Feature(26)4042..4314
Misc Feature(27)order(4048..4053,4204..4206,4210..4212,4303..4305,
Misc Feature(28)4339..4632
Misc Feature(29)order(4360..4365,4522..4524,4528..4530,4618..4620,
Misc Feature(30)4666..4959
Misc Feature(31)order(4678..4683,4846..4848,4852..4854,4945..4947,
Misc Feature(32)4987..5280
Misc Feature(33)order(5005..5010,5167..5169,5173..5175,5266..5268,
Misc Feature(34)5302..>5538
Misc Feature(35)order(5323..5328,5485..5487,5491..5493)
Misc Feature(36)5644..5931
Misc Feature(37)order(5656..5661,5818..5820,5824..5826,5917..5919,
Misc Feature(38)5953..6255
Misc Feature(39)order(5974..5979,6133..6135,6139..6141,6241..6243,
Misc Feature(40)6277..6585
Misc Feature(41)order(6298..6303,6472..6474,6478..6480,6571..6573,
Misc Feature(42)6613..6897
Misc Feature(43)order(6628..6633,6787..6789,6793..6795,6886..6888,
Misc Feature(44)6928..7257
Misc Feature(45)order(6943..6948,7129..7131,7135..7137,7243..7245,
Misc Feature(46)7291..7584
Misc Feature(47)order(7309..7314,7471..7473,7477..7479,7570..7572,
Misc Feature(48)7606..7902
Misc Feature(49)order(7627..7632,7780..7782,7786..7788,7891..7893,
Misc Feature(50)7927..8211
Misc Feature(51)order(7948..7953,8104..8106,8197..8199,8203..8208)
Misc Feature(52)8248..8544
Misc Feature(53)order(8260..8265,8428..8430,8434..8436,8530..8532,
Misc Feature(54)8593..8913
Misc Feature(55)order(8605..8610,8764..8766,8770..8772,8902..8904,
Misc Feature(56)8938..9243
Misc Feature(57)order(8959..8964,9151..9153,9157..9159)
Misc Feature(58)9583..9645
Exon (1)1..385
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (2)386..457
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (3)458..535
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (4)536..678
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (5)679..726
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (6)727..819
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (7)820..1014
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (8)1015..1143
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (9)1144..1222
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (10)1223..1335
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (11)1336..1524
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (12)1525..1530
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (13)1531..1680
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (14)1681..1839
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (15)1840..1904
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (16)1905..2142
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (17)2143..2248
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (18)2249..2376
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (19)2377..2449
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (20)2450..2566
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (21)2567..2679
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (22)2680..2787
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (23)2788..2977
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (24)2978..3123
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (25)3124..3343
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (26)3344..3496
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (27)3497..3610
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (28)3611..3759
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (29)3760..3820
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (30)3821..3969
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (31)3970..4105
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (32)4106..4494
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (33)4495..4596
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (34)4597..4599
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (35)4600..4749
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (36)4750..4878
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (37)4879..5007
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (38)5008..5235
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (39)5236..5457
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (40)5458..5577
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (41)5578..5758
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (42)5759..5892
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (43)5893..6102
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (44)6103..6210
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (45)6211..6313
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (46)6314..6439
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (47)6440..6643
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (48)6644..7102
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (49)7103..7219
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (50)7220..7444
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (51)7445..7614
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (52)7615..7752
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (53)7753..7872
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (54)7873..8050
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (55)8051..8262
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (56)8263..8454
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (57)8455..8568
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (58)8569..8698
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (59)8699..8950
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (60)8951..9112
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (61)9113..9369
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (62)9370..9467
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (63)9468..9588
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (64)9589..9668
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (65)9669..9709
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (66)9710..9770
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (67)9771..9900
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (68)9901..10023
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (69)10024..10128
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Exon (70)10129..11124
Gene:CDH23
Gene Synonym:CDHR23; USH1D
Translation MGRHVATSCHVAWLLVLISGCWGQVNRLPFFTNHFFDTYLLISEDTPVGSSVTQLLAQDM DNDPLVFGVSGEEASRFFAVEPDTGVVWLRQPLDRETKSEFTVEFSVSDHQGVITRKVNI QVGDVNDNAPTFHNQPYSVRIPENTPVGTPIFIVNATDPDLGAGGSVLYSFQPPSQFFAI DSARGIVTVIRELDYETTQAYQLTVNATDQDKTRPLSTLANLAIIITDVQDMDPIFINLP YSTNIYEHSPPGTTVRIITAIDQDKGRPRGIGYTIVSGNTNSIFALDYISGVLTLNGLLD RENPLYSHGFILTVKGTELNDDRTPSDATVTTTFNILVIDINDNAPEFNSSEYSVAITEL AQVGFALPLFIQVVDKDENLGLNSMFEVYLVGNNSHHFIISPTSVQGKADIRIRVAIPLD YETVDRYDFDLFANESVPDHVGYAKVKITLINENDNRPIFSQPLYNISLYENVTVGTSVL TVLATDNDAGTFGEVSYFFSDDPDRFSLDKDTGLIMLIARLDYELIQRFTLTIIARDGGG EETTGRVRINVLDVNDNVPTFQKDAYVGALRENEPSVTQLVRLRATDEDSPPNNQITYSI VSASAFGSYFDISLYEGYGVISVSRPLDYEQISNGLIYLTVMAMDAGNPPLNSTVPVTIE VFDENDNPPTFSKPAYFVSVVENIMAGATVLFLNATDLDRSREYGQESIIYSLEGSTQFR INARSGEITTTSLLDRETKSEYILIVRAVDGGVGHNQKTGIATVNITLLDINDNHPTWKD APYYINLVEMTPPDSDVTTVVAVDPDLGENGTLVYSIQPPNKFYSLNSTTGKIRTTHAML DRENPDPHEAELMRKIVVSVTDCGRPPLKATSSATVFVNLLDLNDNDPTFQNLPFVAEVL EGIPAGVSIYQVVAIDLDEGLNGLVSYRMPVGMPRMDFLINSSSGVVVTTTELDRERIAE YQLRVVASDAGTPTKSSTSTLTIHVLDVNDETPTFFPAVYNVSVSEDVPREFRVVWLNCT DNDVGLNAELSYFITGGNVDGKFSVGYRDAVVRTVVGLDRETTAAYMLILEAIDNGPVGK RHTGTATVFVTVLDVNDNRPIFLQSSYEASVPEDIPEGHSILQLKATDADEGEFGRVWYR ILHGNHGNNFRIHVSNGLLMRGPRPLDRERNSSHVLIVEAYNHDLGPMRSSVRVIVYVED INDEAPVFTQQQYSRLGLRETAGIGTSVIVVQATDRDSGDGGLVNYRILSGAEGKFEIDE STGLIITVNYLDYETKTSYMMNVSATDQAPPFNQGFCSVYITLLNELDEAVQFSNASYEA AILENLALGTEIVRVQAYSIDNLNQITYRFNAYTSTQAKALFKIDAITGVITVQGLVDRE KGDFYTLTVVADDGGPKVDSTVKVYITVLDENDNSPRFDFTSDSAVSIPEDCPVGQRVAT VKAWDPDAGSNGQVVFSLASGNIAGAFEIVTTNDSIGEVFVARPLDREELDHYILQVVAS DRGTPPRKKDHILQVTILDINDNPPVIESPFGYNVSVNENVGGGTAVVQVRATDRDIGIN SVLSYYITEGNKDMAFRMDRISGEIATRPAPPDRERQSFYHLVATVEDEGTPTLSATTHV YVTIVDENDNAPMFQQPHYEVLLDEGPDTLNTSLITIQALDLDEGPNGTVTYAIVAGNIV NTFRIDRHMGVITAAKELDYEISHGRYTLIVTATDQCPILSHRLTSTTTVLVNVNDINDN VPTFPRDYEGPFEVTEGQPGPRVWTFLAHDRDSGPNGQVEYSIMDGDPLGEFVISPVEGV LRVRKDVELDRETIAFYNLTICARDRGMPPLSSTMLVGIRVLDINDNDPVLLNLPMNITI SENSPVSSFVAHVLASDADSGCNARLTFNITAGNRERAFFINATTGIVTVNRPLDRERIP EYKLTISVKDNPENPRIARRDYDLLLIFLSDENDNHPLFTKSTYQAEVMENSPAGTPLTV LNGPILALDADQDIYAVVTYQLLGAQSGLFDINSSTGVVTVRSGVIIDREAFSPPILELL LLAEDIGLLNSTAHLLITILDDNDNRPTFSPATLTVHLLENCPPGFSVLQVTATDEDSGL NGELVYRIEAGAQDRFLIHLVTGVIRVGNATIDREEQESYRLTVVATDRGTVPLSGTAIV TILIDDINDSRPEFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVGIVAKDDT DRLVPNQEDAFAVNINTGSVMVKSPMNRELVATYEVTLSVIDNASDLPERSVSVPNAKLT VNVLDVNDNTPQFKPFGITYYMERILEGATPGTTLIAVAAVDPDKGLNGLVTYTLLDLVP PGYVQLEDSSAGKVIANRTVDYEEVHWLNFTVRASDNGSPPRAAEIPVYLEIVDINDNNP IFDQPSYQEAVFEDVPVGTIILTVTATDADSGNFALIEYSLGDGESKFAINPTTGDIYVL SSLDREKKDHYILTALAKDNPGDVASNRRENSVQVVIQVLDVNDCRPQFSKPQFSTSVYE NEPAGTSVITMMATDQDEGPNGELTYSLEGPGVEAFHVDMDSGLVTTQRPLQSYEKFSLT VVATDGGEPPLWGTTMLLVEVIDVNDNRPVFVRPPNGTILHIREEIPLRSNVYEVYATDK DEGLNGAVRYSFLKTAGNRDWEFFIIDPISGLIQTAQRLDRESQAVYSLILVASDLGQPV PYETMQPLQVALEDIDDNEPLFVRPPKGSPQYQLLTVPEHSPRGTLVGNVTGAVDADEGP NAIVYYFIAAGNEEKNFHLQPDGCLLVLRDLDREREAIFSFIVKASSNRSWTPPRGPSPT LDLVADLTLQEVRVVLEDINDQPPRFTKAEYTAGVATDAKVGSELIQVLALDADIGNNSL VFYSILAIHYFRALANDSEDVGQVFTMGSMDGILRTFDLFMAYSPGYFVVDIVARDLAGH NDTAIIGIYILRDDQRVKIVINEIPDRVRGFEEEFIHLLSNITGAIVNTDNVQFHVDKKG RVNFAQTELLIHVVNRDTNRILDVDRVIQMIDENKEQLRNLFRNYNVLDVQPAISVRLPD DMSALQMAIIVLAILLFLAAMLFVLMNWYYRTVHKRKLKAIVAGSAGNRGFIDIMDMPNT NKYSFDGANPVWLDPFCRNLELAAQAEHEDDLPENLSEIADLWNSPTRTHGTFGREPAAV KPDDDRYLRAAIQEYDNIAKLGQIIREGPIKGSLLKVVLEDYLRLKKLFAQRMVQKASSC HSSISELIQTELDEEPGDHSPGQGSLRFRHKPPVELKGPDGIHVVHGSTGTLLATDLNSL PEEDQKGLGRSLETLTAAEATAFERNARTESAKSTPLHKLRDVIMETPLEITEL
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Position Chain Variation Link
133+a, gdbSNP:139742443
311+c, tdbSNP:111396715
343..344+, cgaggdbSNP:147915565
344..345+, cgaggdbSNP:72430011
360..361+, aggcgdbSNP:71012280
361+a, cdbSNP:113278321
390+dbSNP:
390+c, tdbSNP:41281302
397+c, tdbSNP:7902757
519+dbSNP:
519+c, tdbSNP:201925753
563+dbSNP:
563+a, gdbSNP:61732490
588+a, gdbSNP:111033288
594+c, tdbSNP:116624130
611+a, cdbSNP:114135543
646+a, gdbSNP:200085829
715+dbSNP:
715+a, gdbSNP:199793172
720+c, tdbSNP:201232514
756+dbSNP:
756+a, gdbSNP:3802720
775+a, gdbSNP:200328570
776+c, tdbSNP:183046743
777+a, gdbSNP:201919232
809+a, gdbSNP:201361229
850+dbSNP:
850+a, gdbSNP:199741966
899+c, gdbSNP:200835414
900+c, tdbSNP:143341423
941+a, gdbSNP:201132251
964+c, gdbSNP:199514829
1002+a, gdbSNP:200200488
1109+dbSNP:
1109+c, tdbSNP:121908354
1284+dbSNP:
1284+a, gdbSNP:111033474
1292+a, gdbSNP:121908355
1299+c, tdbSNP:201884566
1358+dbSNP:
1358+a, gdbSNP:181449189
1401+g, tdbSNP:201783407
1425+c, tdbSNP:45581037
1428+a, gdbSNP:74608315
1443+c, tdbSNP:7903475
1451+a, gdbSNP:200792189
1458+c, tdbSNP:141247813
1468+c, tdbSNP:185917383
1486+a, gdbSNP:143282422
1572+c, tdbSNP:192730794
1575+c, tdbSNP:185105210
1660+a, gdbSNP:2305207
1672+a, gdbSNP:188376296
1691+dbSNP:
1691+a, gdbSNP:139287714
1697+a, gdbSNP:111033369
1728+a, gdbSNP:201686574
1736+c, tdbSNP:200997507
1813+a, gdbSNP:62622410
1836+a, cdbSNP:200324241
1859+dbSNP:
1859+c, gdbSNP:1227049
1877+a, gdbSNP:10999947
1894+a, gdbSNP:200459094
1910+dbSNP:
1910+c, tdbSNP:201584731
1926+a, gdbSNP:56128491
1985+c, tdbSNP:201297042
1986+g, tdbSNP:148361187
2027+a, gdbSNP:199508694
2039+a, gdbSNP:79464349
2135+a, gdbSNP:200263980
2193+dbSNP:
2193+c, gdbSNP:201024982
2204+c, tdbSNP:201475055
2257+dbSNP:
2257+a, gdbSNP:143782870
2264+a, gdbSNP:200907423
2309+c, tdbSNP:199796910
2553+dbSNP:
2553+c, tdbSNP:192326086
2629+dbSNP:
2629+c, tdbSNP:200649500
2640..2641+, gdbSNP:34432586
2641+a, gdbSNP:41281306
2653+c, tdbSNP:181255269
2706+dbSNP:
2706+a, gdbSNP:3752752
2720+c, tdbSNP:199709482
2727+a, gdbSNP:111033461
2758+a, gdbSNP:187827251
2778+a, gdbSNP:3752751
2814+dbSNP:
2814+a, gdbSNP:76601590
2892+c, tdbSNP:55918133
2946+a, gdbSNP:61852054
2958+c, gdbSNP:188498736
2962+a, gdbSNP:181275139
2986+dbSNP:
2986+, cdbSNP:34768093
3101+c, tdbSNP:199894395
3104+c, tdbSNP:201871422
3135+dbSNP:
3135+c, tdbSNP:183220886
3180+a, gdbSNP:111033528
3205+c, gdbSNP:200553795
3220+a, gdbSNP:188098974
3255+c, tdbSNP:79636933
3265+a, gdbSNP:200196800
3268+a, gdbSNP:111033458
3299+c, tdbSNP:202203105
3348+dbSNP:
3348+a, gdbSNP:74702249
3360+c, tdbSNP:56216952
3399+c, tdbSNP:10823829
3400+a, gdbSNP:79705488
3412+a, gdbSNP:201053044
3464+a, gdbSNP:143179070
3508+dbSNP:
3508+g, tdbSNP:200177873
3532+c, tdbSNP:181843079
3568+c, tdbSNP:201536811
3576+a, cdbSNP:201589645
3596+g, tdbSNP:74390113
3603+a, gdbSNP:140255091
3615..3616+dbSNP:
3615..3616+, gdbSNP:35865328
3620+c, tdbSNP:202101019
3638..3639+, gdbSNP:34236496
3639+a, gdbSNP:79805606
3652+a, gdbSNP:200632520
3683+a, gdbSNP:41281310
3685..3686+, gdbSNP:34242194
3691+a, gdbSNP:199510686
3697+c, tdbSNP:113714164
3751+a, tdbSNP:200542052
3754+g, tdbSNP:77821631
3787+dbSNP:
3787+a, gdbSNP:111033509
3870+dbSNP:
3870+g, tdbSNP:111033519
3898+c, tdbSNP:199866703
3964+a, gdbSNP:80028391
4009+dbSNP:
4009+a, gdbSNP:111033488
4015+a, gdbSNP:41281314
4054+a, gdbSNP:41281316
4097+a, gdbSNP:186990940
4129+dbSNP:
4129+c, tdbSNP:202204597
4147..4148+, gdbSNP:33998064
4191+c, tdbSNP:56107171
4192+a, gdbSNP:201884261
4235+a, gdbSNP:149073355
4270+c, tdbSNP:121908350
4285+a, gdbSNP:201610096
4315+a, gdbSNP:111033468
4317+a, gdbSNP:115398922
4376+a, gdbSNP:201877610
4389+a, gdbSNP:111033453
4391+a, gdbSNP:199953929
4411+a, gdbSNP:121908351
4435+c, tdbSNP:41281318
4441+c, tdbSNP:1227065
4458+c, gdbSNP:143136329
4536+dbSNP:
4536+c, tdbSNP:201008425
4593+c, tdbSNP:202166096
4606+dbSNP:
4606+a, gdbSNP:192459984
4689+a, tdbSNP:12218559
4700+a, gdbSNP:56181447
4731+c, tdbSNP:12218564
4795+dbSNP:
4795+a, gdbSNP:200635365
4803+c, tdbSNP:199700008
4878+c, gdbSNP:121908347
4899+dbSNP:
4899+c, tdbSNP:10999978
4926+a, cdbSNP:191759543
4972+a, gdbSNP:201533282
5010+dbSNP:
5010+c, tdbSNP:111033490
5027+c, tdbSNP:145316633
5061+c, tdbSNP:182260167
5094+c, tdbSNP:186866326
5113+c, tdbSNP:1227051
5152+c, tdbSNP:137937502
5170+c, tdbSNP:200664666
5248+dbSNP:
5248+a, gdbSNP:41281330
5254+a, gdbSNP:199754104
5265+a, gdbSNP:149664909
5413+a, gdbSNP:17712523
5416+a, gdbSNP:56043301
5428+a, gdbSNP:201364852
5440+c, tdbSNP:111033522
5441+c, gdbSNP:111033475
5490+dbSNP:
5490+c, tdbSNP:10762480
5520+a, c, tdbSNP:111033487
5521+a, gdbSNP:181611778
5523+c, tdbSNP:184576414
5551+c, tdbSNP:78119792
5558+a, gdbSNP:189361642
5618+dbSNP:
5618+a, cdbSNP:191021194
5626+c, tdbSNP:201763918
5627+a, gdbSNP:111033270
5687+c, tdbSNP:114745089
5702+a, gdbSNP:111033480
5801+dbSNP:
5801+c, tdbSNP:3802711
5808+c, gdbSNP:74145660
5809+a, gdbSNP:143993990
5833+a, gdbSNP:199581934
5861+a, gdbSNP:111033491
5895+dbSNP:
5895+a, gdbSNP:200786014
5908+c, tdbSNP:145951744
5931+c, tdbSNP:148632119
5932+a, gdbSNP:188078418
5934+c, tdbSNP:142131750
5966+c, tdbSNP:191676428
6053+c, tdbSNP:121908352
6073+c, tdbSNP:201490610
6125+dbSNP:
6125+a, gdbSNP:142663207
6143+a, gdbSNP:115113440
6196+c, tdbSNP:200895128
6221+dbSNP:
6221+c, tdbSNP:201876362
6386+dbSNP:
6386+c, gdbSNP:11592462
6416+a, tdbSNP:201067092
6439+a, gdbSNP:183431253
6470+dbSNP:
6470+c, tdbSNP:185819621
6471+g, tdbSNP:114919561
6520+a, gdbSNP:10466026
6523+a, gdbSNP:121908348
6560+c, tdbSNP:186693562
6586+c, tdbSNP:111033489
6587+a, gdbSNP:201887949
6639+a, gdbSNP:55964031
6665+dbSNP:
6665+c, tdbSNP:145868749
6719+c, tdbSNP:111033492
6728+a, tdbSNP:182041993
6765+c, gdbSNP:16929354
6767+a, gdbSNP:201942629
6792..6795+, agagdbSNP:55947063
6802+, gdbSNP:111033473
6819+a, gdbSNP:142788731
6824+g, tdbSNP:200933929
6832+a, gdbSNP:111033271
6879+c, gdbSNP:111033493
6882+c, tdbSNP:41281332
6986+a, tdbSNP:111033494
6994+a, gdbSNP:121908349
7038+c, tdbSNP:186394654
7077+c, tdbSNP:76463072
7095+c, tdbSNP:114827737
7112..7113+dbSNP:
7112..7113+, gdbSNP:35428767
7199+a, gdbSNP:139409005
7237+dbSNP:
7237+a, gdbSNP:41281334
7242+c, gdbSNP:56013867
7301+a, gdbSNP:201434373
7308+a, gdbSNP:146819206
7380+g, tdbSNP:111033495
7463+dbSNP:
7463+a, gdbSNP:4747194
7467+a, cdbSNP:191154178
7516+a, gdbSNP:9663920
7522+a, gdbSNP:181197242
7529+c, tdbSNP:4747195
7685+dbSNP:
7685+a, gdbSNP:201579860
7784+dbSNP:
7784+a, gdbSNP:199903227
7833..7834+, gdbSNP:34911784
7853+a, gdbSNP:148149598
7856+a, gdbSNP:141986620
7857+c, tdbSNP:111033289
7858+a, gdbSNP:41281336
7962+dbSNP:
7962+a, gdbSNP:10823849
8020+c, tdbSNP:114819374
8049+a, gdbSNP:113730381
8112+dbSNP:
8112+c, tdbSNP:111033483
8152+c, gdbSNP:41281338
8213+a, gdbSNP:202052174
8277+dbSNP:
8277+c, tdbSNP:182647000
8389+c, gdbSNP:200251748
8412+a, gdbSNP:201733315
8557+dbSNP:
8557+c, gdbSNP:142857685
8701+dbSNP:
8701+a, gdbSNP:201076440
8734+a, gdbSNP:202147495
8779+a, gdbSNP:140949515
8791+a, cdbSNP:3802707
8801+a, gdbSNP:137853912
8890+a, gdbSNP:190672679
8924+a, gdbSNP:199668532
9133+dbSNP:
9133+c, tdbSNP:185818081
9134+a, gdbSNP:58875306
9198+c, tdbSNP:148743086
9249+c, tdbSNP:11000008
9285+c, tdbSNP:11000009
9297+c, tdbSNP:11000010
9344+a, cdbSNP:113125338
9392+dbSNP:
9392+a, gdbSNP:111033467
9404+c, gdbSNP:188966938
9448+c, tdbSNP:181658753
9594+dbSNP:
9594+a, gdbSNP:192266658
9716+dbSNP:
9716+a, gdbSNP:200188029
9725+c, tdbSNP:201359237
9729+c, tdbSNP:201812147
9763+c, tdbSNP:45583140
9789+dbSNP:
9789+a, gdbSNP:59687895
9828+a, gdbSNP:200572025
9882+c, tdbSNP:111990148
9891+a, gdbSNP:144906721
9914+dbSNP:
9914+a, gdbSNP:140884994
9955+c, tdbSNP:121908353
9959+c, tdbSNP:111033536
9996+a, cdbSNP:193244823
10019+c, tdbSNP:144688588
10060+dbSNP:
10060+c, tdbSNP:111033457
10105+c, tdbSNP:199848649
10148+dbSNP:
10148+a, cdbSNP:140463385
10189+c, tdbSNP:201727938
10263+a, gdbSNP:2290021
10293+c, tdbSNP:55717455
10311+, cdbSNP:34635910
10311+c, tdbSNP:144573209
10318+c, tdbSNP:200124827
10339+a, gdbSNP:187297872
10368+c, tdbSNP:73277900
10369+a, gdbSNP:200733236
10373+a, gdbSNP:148475933
10499+a, gdbSNP:142724265
10535+a, gdbSNP:75715348
10537+c, tdbSNP:189573932
10628+c, tdbSNP:143222936
10659+a, gdbSNP:2290022
10666+c, gdbSNP:146698236
10715+a, gdbSNP:180871119
10804+a, gdbSNP:1867978
10816+a, cdbSNP:115033851
10894+c, tdbSNP:140312023
10952+a, gdbSNP:150035625
10965+a, gdbSNP:1054635
10970+a, cdbSNP:16929375
10989+c, gdbSNP:145367957
11001+c, tdbSNP:149214267
11041+, adbSNP:148667421
Gene SymbolCDH23
Gene SynonymCDHR23; USH1D
Chromosome10
Locus Map10q22.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001171930 Homo sapiens cadherin-related 23 (CDH23), transcript variant 3, mRNA. On-demand $1699.00 25
NM_001171931 Homo sapiens cadherin-related 23 (CDH23), transcript variant 4, mRNA. On-demand $1699.00 25
NM_001171932 Homo sapiens cadherin-related 23 (CDH23), transcript variant 5, mRNA. On-demand $549.00 14
NM_001171933 Homo sapiens cadherin-related 23 (CDH23), transcript variant 6, mRNA. On-demand $1699.00 25
NM_001171934 Homo sapiens cadherin-related 23 (CDH23), transcript variant 7, mRNA. On-demand $1699.00 25
NM_001171935 Homo sapiens cadherin-related 23 (CDH23), transcript variant 8, mRNA. On-demand $449.00 14
NM_001171936 Homo sapiens cadherin-related 23 (CDH23), transcript variant 9, mRNA. On-demand $399.00 14
NM_022124 Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA. On-demand TBD TBD
NM_052836 Homo sapiens cadherin-related 23 (CDH23), transcript variant 2, mRNA. On-demand $699.00 18
Title Large protein assemblies formed by multivalent interactions between cadherin23 and harmonin suggest a stable anchorage structure at the tip link of stereocilia .
Author Wu,L., Pan,L., Zhang,C. and Zhang,M.
Journal J. Biol. Chem. 287 (40), 33460-33471 (2012)
Title Association of cadherin23 single nucleotide polymorphism with age-related hearing impairment in Han Chinese .
Author Hwang,J.H., Liu,K.S., Wu,C.C. and Liu,T.C.
Journal Otolaryngol Head Neck Surg 147 (3), 531-534 (2012)
Title Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study .
Author Miyagawa,M., Nishio,S.Y. and Usami,S.
Journal PLoS ONE 7 (8), E40366 (2012)
Title UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes .
Author Baux,D., Faugere,V., Larrieu,L., Le Guedard-Mereuze,S., Hamroun,D., Beroud,C., Malcolm,S., Claustres,M. and Roux,A.F.
Journal Hum. Mutat. 29 (8), E76-E87 (2008)
Title Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development .
Author Lagziel,A., Ahmed,Z.M., Schultz,J.M., Morell,R.J., Belyantseva,I.A. and Friedman,T.B.
Journal Dev. Biol. 280 (2), 295-306 (2005)
Title Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D .
Author Di Palma,F., Holme,R.H., Bryda,E.C., Belyantseva,I.A., Pellegrino,R., Kachar,B., Steel,K.P. and Noben-Trauth,K.
Journal Nat. Genet. 27 (1), 103-107 (2001)
Title Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23 .
Author Bork,J.M., Peters,L.M., Riazuddin,S., Bernstein,S.L., Ahmed,Z.M., Ness,S.L., Polomeno,R., Ramesh,A., Schloss,M., Srisailpathy,C.R., Wayne,S., Bellman,S., Desmukh,D., Ahmed,Z., Khan,S.N., Kaloustian,V.M., Li,X.C., Lalwani,A., Riazuddin,S., Bitner-Glindzicz,M., Nance,W.E., Liu,X.Z., Wistow,G., Smith,R.J., Griffith,A.J., Wilcox,E.R., Friedman,T.B. and Morell,R.J.
Journal Am. J. Hum. Genet. 68 (1), 26-37 (2001)
Title Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10 .
Author Wayne,S., Der Kaloustian,V.M., Schloss,M., Polomeno,R., Scott,D.A., Hejtmancik,J.F., Sheffield,V.C. and Smith,R.J.
Journal Hum. Mol. Genet. 5 (10), 1689-1692 (1996)
Title Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22 .
Author Chaib,H., Place,C., Salem,N., Dode,C., Chardenoux,S., Weissenbach,J., el Zir,E., Loiselet,J. and Petit,C.
Journal Hum. Mol. Genet. 5 (7), 1061-1064 (1996)
Title Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers .
Author Marres,H.A. and Cremers,C.W.
Journal Arch. Otolaryngol. Head Neck Surg. 115 (5), 591-595 (1989)


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