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SNP linked to Gene (geneID:5620) Via Contig Annotation

rs# on all gene models to Batch Query
all rs# to file.

  Gene Model (mRNA alignment) information from genome sequence back to top
Total gene model (contig mRNA transcript): 5
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_002762.3minus strandNP_002753.2reverseNT_010393.17GRCh38.p7<- currently shown
NM_001286359.1minus strandNP_001273288.1reverseNT_010393.17GRCh38.p7View snp on GeneModel
NM_001286358.1minus strandNP_001273287.1reverseNT_010393.17GRCh38.p7View snp on GeneModel
NM_001286357.1minus strandNP_001273286.1reverseNT_010393.17GRCh38.p7View snp on GeneModel
NM_001286356.1minus strandNP_001273285.1reverseNT_010393.17GRCh38.p7View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p7NT_010393.17NM_002762.3NP_002753.2reverseminus strand195, coding

Region Chr.
position
mRNA
pos
dbSNP rs#
cluster id
Hetero-
zygosity
Validation MAF Allele
origin
3D Linkout Function dbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
PubMed
11275832531 rs767730863 0.000byFreq CGln [Q]1141
contig referenceT1141
11275836527 rs1476437943 N.D. synonymousAArg [R]3139
contig referenceGArg [R]3139
11275837526 rs775905388 0.000 missenseCThr [T]2139
contig referenceGArg [R]2139
11275839524 rs79674436 0.027byClusterbyFreqWith1000GenomeData0.0032 synonymousCVal [V]3138
contig referenceGVal [V]3138
11275840523 rs1432573986 N.D. missenseGGly [G]2138
contig referenceTVal [V]2138
11275844519 rs1482270382 N.D. nonsenseT1137
contig referenceCGln [Q]1137
11275847516 rs1174001004 N.D. missenseAAsn [N]1136
contig referenceCHis [H]1136
11275851512 rs760816856 0.000byFreq synonymousAPro [P]3134
contig referenceGPro [P]3134
11275852511 rs545828790 0.001byClusterbyFreqWith1000GenomeData0.0008 missenseAGln [Q]2134
missenseTLeu [L]2134
contig referenceCPro [P]2134
11275853510 rs757355350 0.000 missenseGAla [A]1134
contig referenceCPro [P]1134
11275855508 rs189897315 0.001byFreqWith1000GenomeData missenseAHis [H]2133
missenseCPro [P]2133
missenseTLeu [L]2133
contig referenceGArg [R]2133
11275856507 rs140797025 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTCys [C]1133
contig referenceCArg [R]1133
11275859503 rs1173277113 N.D. frame shift-Pro [P]3133
contig referenceAAArg [R]3133
11275860503 rs988139221 N.D. synonymousGLys [K]3131
contig referenceALys [K]3131
11275862499 rs1367487280 N.D. -2130
11275866497 rs1212894690 N.D. synonymousGLeu [L]3129
contig referenceALeu [L]3129
11275867496 rs1361279406 N.D. nonsenseG2129
contig referenceTLeu [L]2129
11275872491 rs780898799 0.000 missenseCCys [C]3127
contig referenceGTrp [W]3127
11275873490 rs1235717297 N.D. nonsenseA2127
contig referenceGTrp [W]2127
11275875488 rs1306028283 N.D. missenseGArg [R]3126
contig referenceCSer [S]3126
11275876487 rs452495 0.000With1000GenomeData0.0002 missenseCThr [T]2126
contig referenceGSer [S]2126
11275877486 rs756071298 0.000byFreq missenseCArg [R]1126
contig referenceASer [S]1126
11275879484 rs563220214 N.D. missenseGArg [R]2125
contig referenceCPro [P]2125
11275880483 rs1285216650 N.D. missenseGAla [A]1125
contig referenceCPro [P]1125
11275881482 rs777670746 0.000 synonymousTThr [T]3124
contig referenceCThr [T]3124
11275887476 rs1219439291 N.D. synonymousAPro [P]3122
contig referenceCPro [P]3122
11275889474 rs748808117 0.000 missenseAThr [T]1122
contig referenceCPro [P]1122
11275890473 rs1453684753 N.D. synonymousAGly [G]3121
contig referenceGGly [G]3121
11275892471 rs1404150182 N.D. missenseAArg [R]1121
contig referenceGGly [G]1121
11275896467 rs1194210981 N.D. synonymousALeu [L]3119
synonymousGLeu [L]3119
contig referenceTLeu [L]3119
11275899464 rs770357620 0.000byFreq synonymousALys [K]3118
contig referenceGLys [K]3118
11275903460 rs1045099565 N.D. missenseTIle [I]2117
contig referenceCThr [T]2117
11275905458 rs1437599169 N.D. synonymousTGly [G]3116
contig referenceCGly [G]3116
11275907456 rs888440203 N.D. missenseASer [S]1116
contig referenceGGly [G]1116
11275912451 rs1005974861 N.D. missenseAGlu [E]2114
missenseGGly [G]2114
missenseTVal [V]2114
contig referenceCAla [A]2114
11275913450 rs774020331 0.000 missenseAThr [T]1114
contig referenceGAla [A]1114
11275916447 rs745559407 0.000 missenseGAsp [D]1113
contig referenceCHis [H]1113
11275919444 rs1446124971 N.D. missenseCGln [Q]1112
contig referenceGGlu [E]1112
11275925438 rs1320977090 N.D. missenseAArg [R]1110
contig referenceGGly [G]1110
11275927436 rs771728241 0.000byFreq missenseGArg [R]2109
contig referenceCPro [P]2109
11275928435 rs371633986 0.000byCluster missenseAThr [T]1109
missenseTSer [S]1109
contig referenceCPro [P]1109
11275931432 rs376119792 0.000byClusterbyFreq missenseALys [K]1108
missenseCGln [Q]1108
contig referenceGGlu [E]1108
11275933430 rs1056958648 N.D. missenseTVal [V]2107
contig referenceCAla [A]2107
11275935428 rs1239864004 N.D. synonymousCAla [A]3106
contig referenceTAla [A]3106
11275937426 rs373407016 0.000byCluster missenseAThr [T]1106
contig referenceGAla [A]1106
11275940423 rs112277334 N.D.byCluster missenseGGlu [E]1105
contig referenceALys [K]1105
11275945415 rs769001474 0.000 frame shift-Pro [P]2102
contig referenceTTTCLeu [L]2102
11275946417 rs781384809 0.000byCluster frame shift-Pro [P]1103
contig referenceTSer [S]1103
11275947416 rs1226856973 N.D. synonymousCLeu [L]3102
contig referenceTLeu [L]3102
11275950413 rs1289179112 N.D. frame shift-Phe [F]3102
contig referenceTLeu [L]3102
11275951412 rs764712196 0.000 missenseGCys [C]2101
contig referenceTPhe [F]2101
11275952411 rs1214179634 N.D. missenseCLeu [L]1101
contig referenceTPhe [F]1101
11275953410 rs777213994 0.000 synonymousTAsn [N]3100
contig referenceCAsn [N]3100
11275959404 rs762014713 0.000byFreq missenseGLys [K]398
contig referenceCAsn [N]398
11275961402 rs1366772904 N.D. missenseCHis [H]198
missenseGAsp [D]198
contig referenceAAsn [N]198
11275962401 rs1180796192 N.D. synonymousGLeu [L]397
contig referenceCLeu [L]397
11275963400 rs1307013949 N.D. missenseCPro [P]297
contig referenceTLeu [L]297
11275965398 rs115686767 0.017byClusterbyFreqWith1000GenomeData0.0355 synonymousTPro [P]396
contig referenceCPro [P]396
11275967396 rs1470934868 N.D. missenseTSer [S]196
contig referenceCPro [P]196
11275968395 rs202173084 0.000byClusterbyFreq missenseAGlu [E]395
synonymousTAsp [D]395
contig referenceCAsp [D]395
11275970393 rs1416447684 N.D. missenseAAsn [N]195
contig referenceGAsp [D]195
11275979384 rs1380935388 N.D. missenseAThr [T]192
contig referenceTSer [S]192
11276100381 rs1376477013 N.D. nonsenseT191
missenseALys [K]191
contig referenceGGlu [E]191
11276103378 rs1436765422 N.D. missenseGGly [G]190
contig referenceAArg [R]190
11276105376 rs368279710 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAHis [H]289
contig referenceGArg [R]289
11276106375 rs1384254333 N.D. missenseTCys [C]189
contig referenceCArg [R]189
11276108373 rs939582242 N.D. missenseGArg [R]288
contig referenceAHis [H]288
11276116365 rs1297886962 N.D. synonymousTArg [R]385
contig referenceGArg [R]385
11276117364 rs368911368 0.000byClusterbyFreq missenseAGln [Q]285
contig referenceGArg [R]285
11276118363 rs556390542 0.000byFreqWith1000GenomeData0.0002 missenseTTrp [W]185
contig referenceCArg [R]185
11276119362 rs767725335 0.000byFreq missenseGGln [Q]384
contig referenceCHis [H]384
11276124357 rs1348344535 N.D. missenseGGly [G]183
contig referenceAArg [R]183
11276125356 rs1212494935 N.D. synonymousTCys [C]382
contig referenceCCys [C]382
11276127354 rs776470997 0.000 missenseCArg [R]182
contig referenceTCys [C]182
11276129352 rs150112990 N.D.With1000GenomeData missenseGCys [C]281
contig referenceCSer [S]281
11276130351 rs1485375070 N.D. missenseAThr [T]181
contig referenceTSer [S]181
11276131350 rs761542726 0.000byFreq synonymousTArg [R]380
contig referenceCArg [R]380
11276132349 rs371266573 0.000byCluster missenseAHis [H]280
contig referenceGArg [R]280
11276133348 rs750334799 0.000byFreq missenseASer [S]180
missenseTCys [C]180
contig referenceCArg [R]180
11276138343 rs1193582741 N.D. missenseGArg [R]278
contig referenceALys [K]278
11276141340 rs200756329 0.000byClusterWith1000GenomeData0.0002 missenseAHis [H]277
contig referenceGArg [R]277
11276142339 rs751084554 0.000 missenseTCys [C]177
contig referenceCArg [R]177
11276144337 rs1453540057 N.D. missenseALys [K]276
contig referenceGArg [R]276
11276150331 rs1012422042 N.D. missenseATyr [Y]274
contig referenceGCys [C]274
11276151330 rs754743314 0.000byFreq missenseCArg [R]174
contig referenceTCys [C]174
11276152329 rs780978302 0.000byFreq synonymousTSer [S]373
contig referenceCSer [S]373
11276153328 rs1297001764 N.D. missenseGCys [C]273
contig referenceCSer [S]273
11276155326 rs748535542 0.000 synonymousTArg [R]372
contig referenceCArg [R]372
11276156325 rs903612207 N.D. missenseAHis [H]272
contig referenceGArg [R]272
11276157324 rs756477196 0.000 missenseASer [S]172
missenseGGly [G]172
missenseTCys [C]172
contig referenceCArg [R]172
11276160321 rs1194549477 N.D. missenseTTyr [Y]171
contig referenceCHis [H]171
11276164317 rs367764143 0.000byCluster synonymousAArg [R]369
contig referenceGArg [R]369
11276165316 rs749752404 0.000byFreq missenseAGln [Q]269
contig referenceGArg [R]269
11276166315 rs371207881 0.000byClusterbyFreq missenseTTrp [W]169
synonymousAArg [R]169
contig referenceCArg [R]169
11276167314 rs1304665236 N.D. synonymousAArg [R]368
contig referenceGArg [R]368
11276170311 rs200072135 0.003byClusterbyFreqWith1000GenomeData0.0006 missenseAGln [Q]367
synonymousTHis [H]367
contig referenceCHis [H]367
11276175306 rs11545259 N.D. missenseGVal [V]166
contig referenceAIle [I]166
11276176305 rs745937075 0.000 synonymousCArg [R]365
contig referenceGArg [R]365
11276177304 rs371937419 0.000byClusterbyFreqWith1000GenomeData0.0012 missenseAGln [Q]265
missenseCPro [P]265
contig referenceGArg [R]265
11276178303 rs761628611 0.000byClusterbyFreq missenseGGly [G]165
missenseTTrp [W]165
contig referenceCArg [R]165
11276180301 rs1008628003 N.D. missenseCPro [P]264
contig referenceAHis [H]264
11276185296 rs772862949 0.000byFreq missenseCSer [S]362
missenseTSer [S]362
contig referenceGArg [R]362
11276186295 rs1254165618 N.D. missenseCThr [T]262
contig referenceGArg [R]262
11276188293 rs369592617 0.000byCluster synonymousAArg [R]361
contig referenceGArg [R]361
11276189292 rs766221101 0.000 missenseALys [K]261
contig referenceGArg [R]261
11276189290 rs769817625 0.000byFreq -362
11276190291 rs1293030969 N.D. missenseGGly [G]161
contig referenceAArg [R]161
11276192289 rs201640369 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAGln [Q]260
contig referenceGArg [R]260
11276193288 rs1250297426 N.D. nonsenseT160
contig referenceCArg [R]160
11276195286 rs754479742 0.000 missenseATyr [Y]259
contig referenceCSer [S]259
11276197284 rs1161575201 N.D. synonymousTCys [C]358
contig referenceCCys [C]358
11276200281 rs1366729886 N.D. synonymousTHis [H]357
contig referenceCHis [H]357
11276205276 rs1205677302 N.D. missenseGGly [G]156
contig referenceAArg [R]156
11276207274 rs767282296 0.000byFreq missenseAHis [H]255
contig referenceGArg [R]255
11276208273 rs541275759 0.000byFreqWith1000GenomeData0.0002 missenseASer [S]155
missenseTCys [C]155
contig referenceCArg [R]155
11276210271 rs778246862 0.000byFreq missenseALys [K]254
contig referenceGArg [R]254
11276212269 rs749582206 0.000 synonymousCTyr [Y]353
contig referenceTTyr [Y]353
11276214267 rs909941950 N.D. missenseCHis [H]153
contig referenceTTyr [Y]153
11276215266 rs757843269 0.000 missenseGGln [Q]352
contig referenceCHis [H]352
11276217264 rs941431397 N.D. missenseTTyr [Y]152
contig referenceCHis [H]152
11276218263 rs972866726 N.D. synonymousCSer [S]351
contig referenceTSer [S]351
11276219262 rs3177008 N.D. missenseTPhe [F]251
contig referenceCSer [S]251
11276221260 rs1372370486 N.D. missenseCHis [H]350
contig referenceGGln [Q]350
11276223258 rs779337774 0.000 nonsenseT150
contig referenceCGln [Q]150
11276227254 rs745956146 0.000 synonymousCHis [H]348
contig referenceTHis [H]348
11276231250 rs772103171 0.000 missenseAAsn [N]247
missenseTIle [I]247
contig referenceCThr [T]247
11276234247 rs775712814 0.000 missenseCThr [T]246
contig referenceGArg [R]246
11276236245 rs373716428 0.000byClusterbyFreqWith1000GenomeData0.0010 synonymousAGlu [E]345
contig referenceGGlu [E]345
11276238243 rs768731173 0.000byFreq missenseALys [K]145
contig referenceGGlu [E]145
11276239242 rs201828812 0.000byClusterbyFreq synonymousTTyr [Y]344
contig referenceCTyr [Y]344
11276240241 rs1182091271 N.D. missenseGCys [C]244
contig referenceATyr [Y]244
11276245236 rs1251055944 N.D. synonymousAGlu [E]342
contig referenceGGlu [E]342
11276247234 rs1481170095 N.D. missenseALys [K]142
contig referenceGGlu [E]142
11276248233 rs961105498 N.D. synonymousTVal [V]341
contig referenceCVal [V]341
11276250231 rs762641059 0.000 missenseAIle [I]141
missenseTPhe [F]141
contig referenceGVal [V]141
11276251230 rs369993666 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousTHis [H]340
contig referenceCHis [H]340
11276253228 rs1421810493 N.D. missenseTTyr [Y]140
contig referenceCHis [H]140
11276254227 rs774362924 0.000 synonymousAGlu [E]339
contig referenceGGlu [E]339
11276256225 rs866427825 N.D. missenseALys [K]139
contig referenceGGlu [E]139
11276257224 rs759144750 0.000byFreq synonymousAPro [P]338
contig referenceGPro [P]338
11276258223 rs1420151770 N.D. missenseTLeu [L]238
contig referenceCPro [P]238
11276261220 rs543779964 0.000With1000GenomeData0.0002 missenseAAsn [N]237
missenseTIle [I]237
contig referenceGSer [S]237
11276263218 rs752229574 0.000 synonymousALeu [L]336
contig referenceGLeu [L]336
11276270211 rs760412916 0.000byCluster missenseGArg [R]234
contig referenceAGln [Q]234
11276272209 rs763643173 0.000byFreq missenseCAsp [D]333
missenseTAsp [D]333
contig referenceGGlu [E]333
11276277204 rs1299723845 N.D. missenseALys [K]132
contig referenceGGlu [E]132
11276279202 rs1353153330 N.D. missenseCPro [P]231
contig referenceAGln [Q]231
11276281200 rs757500930 0.000byFreq synonymousAGly [G]330
contig referenceCGly [G]330
11276282199 rs779431351 0.000byFreq missenseAAsp [D]230
contig referenceGGly [G]230
11276283198 rs750882168 0.000byFreq missenseASer [S]130
missenseTCys [C]130
contig referenceGGly [G]130
11276284197 rs758881355 0.000 synonymousTHis [H]329
contig referenceCHis [H]329
11276289192 rs780149075 0.000 missenseTTyr [Y]128
contig referenceCHis [H]128
11276290191 rs1308661865 N.D. synonymousGGly [G]327
contig referenceAGly [G]327
11276291190 rs1394928317 N.D. missenseCAla [A]227
contig referenceGGly [G]227
11276292189 rs747056874 0.000byFreq missenseAArg [R]127
contig referenceGGly [G]127
11276295186 rs779547969 N.D. missenseALys [K]126
contig referenceCGln [Q]126
11276296185 rs768979708 0.000 missenseTAsp [D]325
synonymousAGlu [E]325
contig referenceGGlu [E]325
11276298183 rs781212087 0.000byClusterbyFreq missenseALys [K]125
contig referenceGGlu [E]125
11276299182 rs749113271 0.000 synonymousGGln [Q]324
contig referenceAGln [Q]324
11276301180 rs1259634147 N.D. missenseGGlu [E]124
contig referenceCGln [Q]124
11276303178 rs1476884750 N.D. missenseAGlu [E]223
contig referenceGGly [G]223
11276304177 rs999678948 N.D. missenseAArg [R]123
contig referenceGGly [G]123
11276305176 rs138381991 0.002byClusterbyFreqWith1000GenomeData0.0008 missenseAGln [Q]322
synonymousCHis [H]322
contig referenceTHis [H]322
11276306175 rs377324170 0.000byClusterbyFreq missenseGArg [R]222
contig referenceAHis [H]222
11276307174 rs759591463 0.000 missenseTTyr [Y]122
contig referenceCHis [H]122
11276309172 rs1172224965 N.D. missenseGTrp [W]221
contig referenceTLeu [L]221
11276318163 rs772102432 0.000 missenseALys [K]218
contig referenceGArg [R]218
11276319162 rs1248313500 N.D. missenseGGly [G]118
contig referenceAArg [R]118
11276326155 rs1433656118 N.D. synonymousAGlu [E]315
contig referenceGGlu [E]315
11276328153 rs775204728 0.000 nonsenseT115
missenseALys [K]115
contig referenceGGlu [E]115
11276329152 rs760050004 0.001byClusterbyFreq synonymousTHis [H]314
contig referenceCHis [H]314
11276330151 rs149233606 0.000byFreqWith1000GenomeData missenseGArg [R]214
contig referenceAHis [H]214
11276331150 rs753396937 0.000byFreq missenseAAsn [N]114
missenseGAsp [D]114
contig referenceCHis [H]114
11276332149 rs201104307 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousASer [S]313
contig referenceGSer [S]313
11276333148 rs765639264 0.000byClusterbyFreq missenseTLeu [L]213
contig referenceCSer [S]213
11276336145 rs377249681 0.000byClusterbyFreq missenseAHis [H]212
missenseCPro [P]212
contig referenceGArg [R]212
11276337144 rs758973416 0.000byFreq missenseTCys [C]112
contig referenceCArg [R]112
11276338143 rs780527867 0.000 missenseCAsp [D]311
contig referenceAGlu [E]311
11276340141 rs191601030 0.002byClusterbyFreqWith1000GenomeData0.0004 missenseALys [K]111
contig referenceGGlu [E]111
11276341140 rs370727869 0.000byClusterbyFreq missenseAArg [R]310
synonymousTSer [S]310
contig referenceCSer [S]310
11276343138 rs1405632891 N.D. missenseCArg [R]110
contig referenceASer [S]110
11276345136 rs1445549621 N.D. missenseCPro [P]29
contig referenceTLeu [L]29
11276347134 rs375323174 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAArg [R]38
synonymousTSer [S]38
contig referenceCSer [S]38
11276350131 rs1242815018 N.D. synonymousAArg [R]37
contig referenceGArg [R]37
11276351130 rs1016035427 N.D. missenseALys [K]27
contig referenceGArg [R]27
11276353128 rs368395689 0.000byClusterbyFreq synonymousTVal [V]36
contig referenceGVal [V]36
11276355126 rs375376464 N.D. missenseAMet [M]16
contig referenceGVal [V]16
11276356125 rs370940071 0.000byCluster synonymousTArg [R]35
contig referenceCArg [R]35
11276357124 rs200184582 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAHis [H]25
contig referenceGArg [R]25
11276358123 rs1453575115 N.D. missenseGGly [G]15
missenseTCys [C]15
contig referenceCArg [R]15
11276359122 rs775226825 0.000 synonymousTTyr [Y]34
contig referenceCTyr [Y]34
11276363118 rs374559524 0.000byClusterbyFreq missenseAGln [Q]23
missenseCPro [P]23
contig referenceGArg [R]23
11276364117 rs754565431 0.000 nonsenseT13
contig referenceCArg [R]13
11276365116 rs761412914 0.000 synonymousAVal [V]32
contig referenceCVal [V]32
11276367114 rs764866994 0.000 missenseCLeu [L]12
contig referenceGVal [V]12