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SNP linked to Gene (geneID:7832) 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): 1
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_006763.2plus strandNP_006754.1forwardNT_004487.20GRCh38.p7<- currently shown

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p7NT_004487.20NM_006763.2NP_006754.1forwardplus strand191, 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
20330560873 rs1459391312 N.D. missenseGArg [R]21
contig referenceTMet [M]21
20330560974 rs766776936 0.000 missenseTIle [I]31
contig referenceGMet [M]31
20330561176 rs754308829 0.000 missenseAAsn [N]22
contig referenceGSer [S]22
20330561277 rs531950637 N.D.byCluster synonymousTSer [S]32
contig referenceCSer [S]32
20330561378 rs755396120 0.000byFreq missenseGAsp [D]13
contig referenceCHis [H]13
20330561681 rs147064341 0.000byClusterbyFreq missenseAArg [R]14
contig referenceGGly [G]14
20330561782 rs906117398 N.D. missenseAGlu [E]24
contig referenceGGly [G]24
20330562186 rs975093188 N.D. missenseTAsn [N]35
contig referenceGLys [K]35
20330562287 rs752095028 0.000 nonsenseT16
contig referenceGGly [G]16
20330562489 rs920897695 N.D. synonymousCGly [G]36
contig referenceAGly [G]36
20330562691 rs1332834024 N.D. missenseTIle [I]27
contig referenceCThr [T]27
20330562792 rs1200560799 N.D. synonymousTThr [T]37
contig referenceCThr [T]37
20330563095 rs1259916753 N.D. missenseAGlu [E]38
contig referenceCAsp [D]38
20330563398 rs1458112869 N.D. missenseAIle [I]39
contig referenceGMet [M]39
203305635100 rs1195142740 N.D. missenseCPro [P]210
contig referenceTLeu [L]210
203305636101 rs1248227869 N.D. synonymousGLeu [L]310
synonymousTLeu [L]310
contig referenceCLeu [L]310
203305637102 rs567838091 0.000With1000GenomeData0.0002 missenseAThr [T]111
contig referenceCPro [P]111
203305638103 rs777565959 0.000 missenseGArg [R]211
missenseTLeu [L]211
contig referenceCPro [P]211
203305643108 rs1416646589 N.D. missenseGVal [V]113
contig referenceAIle [I]113
203305645110 rs1473959157 N.D. synonymousTIle [I]313
contig referenceCIle [I]313
203305648113 rs1172115154 N.D. synonymousAAla [A]314
synonymousTAla [A]314
contig referenceCAla [A]314
203305649114 rs867116264 N.D.byCluster missenseAThr [T]115
contig referenceGAla [A]115
203305651116 rs1424992377 N.D. synonymousTAla [A]315
contig referenceCAla [A]315
203305654119 rs746720055 0.000byCluster synonymousGAla [A]316
contig referenceCAla [A]316
203305655120 rs1296952803 N.D. missenseAMet [M]117
contig referenceGVal [V]117
203305656121 rs770829293 0.000byFreq missenseCAla [A]217
contig referenceTVal [V]217
203305660125 rs1057478532 N.D. synonymousTGly [G]318
contig referenceCGly [G]318
203305664129 rs891937219 N.D. missenseTPhe [F]120
contig referenceCLeu [L]120
203305665130 rs781174805 0.000 missenseCPro [P]220
contig referenceTLeu [L]220
203305666131 rs745690867 0.000 synonymousALeu [L]320
contig referenceCLeu [L]320
203305667132 rs769569694 0.000 missenseGAla [A]121
contig referenceTSer [S]121
203305671136 rs1328735993 N.D. missenseAAsn [N]222
contig referenceGSer [S]222
203305673138 rs775502657 0.000 missenseTPhe [F]123
contig referenceCLeu [L]123
203305675140 rs1353722748 N.D. synonymousTLeu [L]323
contig referenceCLeu [L]323
203305676141 rs1220553710 N.D. synonymousTLeu [L]124
contig referenceCLeu [L]124
203305680145 rs1278976523 N.D. missenseALys [K]225
contig referenceGArg [R]225
203305681146 rs1317370871 N.D. synonymousAArg [R]325
contig referenceGArg [R]325
203305682147 rs1226653208 N.D. missenseGAla [A]126
contig referenceAThr [T]126
203305684149 rs1249520390 N.D. synonymousAThr [T]326
contig referenceCThr [T]326
203305685150 rs1484124420 N.D. missenseTTrp [W]127
contig referenceCArg [R]127
203305686151 rs1200782249 N.D. missenseAGln [Q]227
contig referenceGArg [R]227
203305689154 rs55906353 N.D.byCluster YesmissenseAAsp [D]228
contig referenceGGly [G]228
203305694159 rs1010748312 N.D. missenseAMet [M]130
missenseCLeu [L]130
contig referenceGVal [V]130
203305698163 rs761793365 0.000 missenseCThr [T]231
contig referenceGSer [S]231
203305699164 rs1169240051 N.D. synonymousTSer [S]331
contig referenceCSer [S]331
203305700165 rs772251147 0.000byFreq missenseCGln [Q]132
contig referenceGGlu [E]132
203305702167 rs892306063 N.D. missenseCAsp [D]332
missenseTAsp [D]332
contig referenceGGlu [E]332
203305703168 rs530501274 0.000byFreqWith1000GenomeData0.0002 nonsenseT133
missenseGGlu [E]133
contig referenceCGln [Q]133
203305704169 rs766615672 0.000 missenseGArg [R]233
contig referenceAGln [Q]233
203305708173 rs1466877644 N.D. synonymousAArg [R]334
contig referenceGArg [R]334
203305709174 rs1477837822 N.D. missenseTPhe [F]135
contig referenceCLeu [L]135
203305711176 rs1173338721 N.D. synonymousGLeu [L]335
contig referenceTLeu [L]335
203305712177 rs1374009154 N.D. missenseGGlu [E]136
contig referenceALys [K]136
203305713178 rs1402149577 N.D. missenseGArg [R]236
contig referenceALys [K]236
203305715180 rs754149177 0.000byFreq missenseAIle [I]137
missenseTPhe [F]137
contig referenceGVal [V]137
203305716181 rs1340001615 N.D. missenseCAla [A]237
contig referenceTVal [V]237
203305718183 rs1380551322 N.D. missenseAIle [I]138
contig referenceTPhe [F]138
203305719184 rs1293385534 N.D. missenseCSer [S]238
contig referenceTPhe [F]238
203305723188 rs759954930 0.000byFreq synonymousTSer [S]339
contig referenceCSer [S]339
203305725190 rs1233724395 N.D. missenseAGlu [E]240
contig referenceGGly [G]240
203305728193 rs1279416764 N.D. missenseAGlu [E]241
contig referenceCAla [A]241
203305729194 rs1345463895 N.D. synonymousAAla [A]341
contig referenceGAla [A]341
203305735200 rs1218392704 N.D. missenseTHis [H]343
synonymousAGln [Q]343
contig referenceGGln [Q]343
203305736201 rs1286261797 N.D. missenseCGln [Q]144
contig referenceGGlu [E]144
203305738203 rs1189747789 N.D. missenseCAsp [D]344
contig referenceGGlu [E]344
203305739204 rs1421706286 N.D. missenseAThr [T]145
contig referenceGAla [A]145
203305741206 rs765600993 0.000 synonymousCAla [A]345
synonymousGAla [A]345
contig referenceAAla [A]345
203305746211 rs1018238394 N.D. missenseTIle [I]247
contig referenceCThr [T]247
203305747212 rs551190656 0.000With1000GenomeData0.0002 synonymousTThr [T]347
contig referenceAThr [T]347
203305748213 rs753317706 0.000byFreq nonsenseT148
missenseALys [K]148
contig referenceGGlu [E]148
203307105215 rs1271830396 N.D. synonymousAGlu [E]348
contig referenceGGlu [E]348
203307109219 rs1459438442 N.D. missenseAAsn [N]150
contig referenceTTyr [Y]150
203307118228 rs375229041 0.000byClusterbyFreq YesmissenseGAsp [D]153
contig referenceCHis [H]153
203307120230 rs1232732870 N.D. synonymousTHis [H]353
contig referenceCHis [H]353
203307121231 rs1479845105 N.D. missenseCArg [R]154
contig referenceTTrp [W]154
203307123233 rs1183872349 N.D. nonsenseA354
contig referenceGTrp [W]354
203307129239 rs376703669 0.000byCluster YessynonymousGPro [P]356
synonymousTPro [P]356
contig referenceCPro [P]356
203307130240 rs767274150 0.000 missenseALys [K]157
contig referenceGGlu [E]157
203307135245 rs750146635 0.000byFreq synonymousALys [K]358
contig referenceGLys [K]358
203307137247 rs755841709 0.000 missenseTLeu [L]259
contig referenceCPro [P]259
203307142252 rs776704998 0.000 frame shift-Arg [R]161
contig referenceALys [K]161
203307143253 rs1467179062 N.D. missenseGArg [R]261
contig referenceALys [K]261
203307147257 rs1329415984 N.D. synonymousTGly [G]362
contig referenceCGly [G]362
203307150260 rs201232233 0.000byClusterbyFreq YessynonymousGSer [S]363
synonymousTSer [S]363
contig referenceCSer [S]363
203307151261 rs371754785 0.000byCluster YesmissenseASer [S]164
contig referenceGGly [G]164
203307153263 rs748168777 0.000byFreq frame shift-Thr [T]365
contig referenceCTyr [Y]365
203307157267 rs754858712 0.000 missenseASer [S]166
contig referenceCArg [R]166
203307165275 rs778832398 0.000 missenseGMet [M]368
contig referenceTIle [I]368
203307166276 rs1413642682 N.D. missenseTCys [C]169
contig referenceCArg [R]169
203307167277 rs747021182 0.000 missenseCPro [P]269
contig referenceGArg [R]269
203307174284 rs1319382457 N.D. synonymousTAsn [N]371
contig referenceCAsn [N]371
203307176286 rs1198189403 N.D. frame shift-Pro [P]272
contig referenceAHis [H]272
203307178288 rs1486469702 N.D. missenseGGlu [E]173
contig referenceALys [K]173
203307179289 rs771070723 0.000 missenseGArg [R]273
contig referenceALys [K]273
203307190300 rs1272895939 N.D. missenseCLeu [L]177
contig referenceAIle [I]177
203307193303 rs776708330 0.000 missenseGVal [V]178
contig referenceAIle [I]178
203307194304 rs1042159899 N.D. missenseGSer [S]278
contig referenceTIle [I]278
203307201311 rs374866363 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousAArg [R]380
contig referenceGArg [R]380
203307210320 rs1238276835 N.D. missenseGArg [R]383
contig referenceCSer [S]383
203307211321 rs1340471114 N.D. nonsenseT184
contig referenceCGln [Q]184
203307214324 rs1197006151 N.D. missenseGVal [V]185
contig referenceAIle [I]185
203307215325 rs1244069340 N.D. missenseAAsn [N]285
contig referenceTIle [I]285
203307216326 rs937981413 N.D. missenseGMet [M]385
synonymousTIle [I]385
contig referenceCIle [I]385
203307217327 rs770026388 0.000byFreq nonsenseT186
missenseAArg [R]186
contig referenceGGly [G]186
203307222332 rs763250683 0.000 synonymousTLeu [L]387
contig referenceCLeu [L]387
203307223333 rs531539821 0.000byFreqWith1000GenomeData0.0004 missenseTCys [C]188
contig referenceASer [S]188
203307224334 rs1168447669 N.D. missenseTIle [I]288
contig referenceGSer [S]288
203307227337 rs775004416 0.000 missenseGArg [R]289
contig referenceAGln [Q]289
203307228338 rs1408003351 N.D. synonymousAGln [Q]389
contig referenceGGln [Q]389
203307233343 rs1310721459 N.D. missenseCPro [P]291
missenseGArg [R]291
contig referenceAGln [Q]291
203307234344 rs761393344 0.000 missenseTHis [H]391
contig referenceGGln [Q]391
203307237347 rs34095378 0.000byClusterbyFreqWith1000GenomeData0.0006 YessynonymousALeu [L]392
contig referenceGLeu [L]392
203307238348 rs750010604 0.000 missenseTTyr [Y]193
contig referenceCHis [H]193
203307247357 rs760333089 0.000byFreq synonymousTLeu [L]196
contig referenceCLeu [L]196
203307250360 rs1307653629 N.D. missenseTSer [S]197
contig referenceCPro [P]197
203307255365 rs1341889081 N.D. missenseAArg [R]398
contig referenceCSer [S]398
203307256366 rs1427991826 N.D. missenseALys [K]199
contig referenceGGlu [E]199
203307258368 rs1430764135 N.D. synonymousAGlu [E]399
contig referenceGGlu [E]399
203307259369 rs1270165297 N.D. missenseGVal [V]1100
contig referenceCLeu [L]1100
203307281391 rs765966973 0.000byFreq missenseGCys [C]2107
contig referenceATyr [Y]2107
203307282392 rs753607168 0.000 synonymousCTyr [Y]3107
contig referenceTTyr [Y]3107
203307288398 rs1281572664 N.D. synonymousAVal [V]3109
contig referenceGVal [V]3109
203307291401 rs571587257 0.000With1000GenomeData0.0002 synonymousGSer [S]3110
contig referenceCSer [S]3110
203307293403 rs1209051024 N.D. missenseCSer [S]2111
contig referenceATyr [Y]2111
203307294404 rs376775426 0.000byCluster YessynonymousTTyr [Y]3111
contig referenceCTyr [Y]3111
203307295405 rs1488675600 N.D. missenseTCys [C]1112
contig referenceCArg [R]1112
203307296406 rs752692832 0.000byFreq missenseAHis [H]2112
contig referenceGArg [R]2112
203307297407 rs1241458051 N.D. synonymousTArg [R]3112
contig referenceCArg [R]3112
203307298408 rs757308128 0.000 missenseTPhe [F]1113
contig referenceAIle [I]1113
203307303413 rs1368485709 N.D. synonymousAGly [G]3114
contig referenceGGly [G]3114
203307309419 rs61749326 0.013byClusterbyFreqWith1000GenomeData0.0020 YessynonymousTAsp [D]3116
contig referenceCAsp [D]3116
203307310420 rs1395503335 N.D. missenseASer [S]1117
contig referenceGGly [G]1117
203307312422 rs1433842240 N.D. frame shift-His [H]3118
contig referenceCTSer [S]3118
203307321431 rs139728405 0.000byClusterbyFreq YesnonsenseA3120
synonymousTCys [C]3120
contig referenceCCys [C]3120
203307322432 rs1362023562 N.D. missenseAIle [I]1121
missenseTPhe [F]1121
contig referenceGVal [V]1121
203307324434 rs553836298 0.000With1000GenomeData0.0002 synonymousTVal [V]3121
contig referenceCVal [V]3121
203307325435 rs771882586 N.D. missenseGVal [V]1122
synonymousCLeu [L]1122
contig referenceTLeu [L]1122
203307330440 rs780154019 0.000byFreq synonymousTTyr [Y]3123
contig referenceCTyr [Y]3123
203307331441 rs749597418 0.000 missenseALys [K]1124
contig referenceGGlu [E]1124
203307335445 rs936416828 N.D. missenseTVal [V]2125
contig referenceAGlu [E]2125
203307336446 rs769201476 0.000byFreq missenseTAsp [D]3125
synonymousAGlu [E]3125
contig referenceGGlu [E]3125
203307337447 rs370007952 0.000byClusterbyFreq YesmissenseAThr [T]1126
missenseTSer [S]1126
contig referenceGAla [A]1126
203307338448 rs1038768161 N.D. missenseTVal [V]2126
contig referenceCAla [A]2126
203307339449 rs772734958 0.000 synonymousTAla [A]3126
contig referenceCAla [A]3126
203307341451 rs772727010 0.000 missenseAGln [Q]2127
contig referenceCPro [P]2127
203307342452 rs144359813 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousCPro [P]3127
contig referenceAPro [P]3127
203307343453 rs1264191318 N.D. synonymousTLeu [L]1128
contig referenceCLeu [L]1128
203307345455 rs1247170251 N.D. synonymousALeu [L]3128
contig referenceGLeu [L]3128
203307346456 rs765985904 0.000 missenseTSer [S]1129
contig referenceGAla [A]1129
203307347457 rs1282330564 N.D. missenseTVal [V]2129
contig referenceCAla [A]2129
203307348458 rs142553340 0.001byClusterbyFreqWith1000GenomeData0.0006 synonymousTAla [A]3129
contig referenceCAla [A]3129
203307349459 rs1215539422 N.D. missenseAThr [T]1130
contig referenceGAla [A]1130
203307350460 rs961774679 N.D. missenseTVal [V]2130
contig referenceCAla [A]2130
203307351461 rs1453612272 N.D. synonymousTAla [A]3130
contig referenceCAla [A]3130
203307353463 rs1294802192 N.D. missenseTPhe [F]2131
contig referenceCSer [S]2131
203307356466 rs377682345 0.000byClusterbyFreq missenseCSer [S]2132
contig referenceGCys [C]2132
203307361471 rs765070160 0.000byFreq missenseTPhe [F]1134
contig referenceCLeu [L]1134
203307366476 rs1004409872 N.D. synonymousTLeu [L]3135
contig referenceCLeu [L]3135
203307367477 rs752602771 0.000 missenseTSer [S]1136
contig referenceAThr [T]1136
203307368478 rs758295318 0.000 missenseTIle [I]2136
contig referenceCThr [T]2136
203307369479 rs372912125 0.002byClusterbyFreq synonymousAThr [T]3136
synonymousTThr [T]3136
contig referenceCThr [T]3136
203307375485 rs1327197883 N.D. missenseTAsn [N]3138
contig referenceGLys [K]3138
203307378488 rs1394302738 N.D. missenseALys [K]3139
contig referenceCAsn [N]3139
203307383493 rs199565298 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAGlu [E]2141
contig referenceTVal [V]2141
203307387497 rs576022566 0.000byFreqWith1000GenomeData0.0002 synonymousCLeu [L]3142
contig referenceGLeu [L]3142
203307391501 rs995559262 N.D. missenseTCys [C]1144
contig referenceGGly [G]1144
203307394504 rs760349639 0.000 missenseGGly [G]1145
missenseTTrp [W]1145
contig referenceCArg [R]1145
203307395505 rs139460533 0.000byClusterbyFreqWith1000GenomeData0.0006 missenseAGln [Q]2145
missenseCPro [P]2145
contig referenceGArg [R]2145
203307396506 rs1277984801 N.D. synonymousAArg [R]3145
contig referenceGArg [R]3145
203307397507 rs779377968 0.000 missenseGGly [G]1146
contig referenceASer [S]1146
203307400510 rs183820479 0.000With1000GenomeData0.0002 missenseGGly [G]1147
contig referenceASer [S]1147
203307401511 rs772569959 0.000 missenseAAsn [N]2147
contig referenceGSer [S]2147
203307402512 rs773592774 0.000byFreq synonymousTSer [S]3147
contig referenceCSer [S]3147
203307404514 rs760224886 0.000 missenseGArg [R]2148
missenseTLeu [L]2148
contig referenceCPro [P]2148
203307411521 rs770409310 0.000 synonymousALys [K]3150
contig referenceGLys [K]3150
203307412522 rs776247555 0.000 missenseTTyr [Y]1151
contig referenceAAsn [N]1151
203307413523 rs1451389860 N.D. missenseGSer [S]2151
contig referenceAAsn [N]2151
203307414524 rs1180672774 N.D. synonymousTAsn [N]3151
contig referenceCAsn [N]3151
203307417527 rs572441160 0.000byFreqWith1000GenomeData0.0002 synonymousTTyr [Y]3152
contig referenceCTyr [Y]3152
203307418528 rs12039961 0.018byClusterbyFreqWith1000GenomeData0.0086 missenseAMet [M]1153
contig referenceGVal [V]1153
203307419529 rs775217801 0.000 missenseGGly [G]2153
contig referenceTVal [V]2153
203307420530 rs1336037660 N.D. synonymousTVal [V]3153
contig referenceGVal [V]3153
203307424534 rs1416505850 N.D. missenseAThr [T]1155
contig referenceGAla [A]1155
203307426536 rs992554620 N.D. synonymousCAla [A]3155
contig referenceAAla [A]3155
203307428538 rs1460397779 N.D. missenseCAla [A]2156
contig referenceTVal [V]2156
203307429539 rs762752432 0.000byFreq synonymousTVal [V]3156
contig referenceCVal [V]3156
203307432542 rs377245155 0.000byCluster synonymousTSer [S]3157
contig referenceCSer [S]3157
203307435545 rs751519540 0.000 missenseGArg [R]3158
contig referenceCSer [S]3158
203307437547 rs1327140847 N.D. GTrp [W]2159
contig referenceA2159
203307438548 rs1342422747 N.D. synonymousA3159
contig referenceG3159