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SNP linked to Gene (geneID:970) 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): 3
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_017027523.1minus strandXP_016883012.1reverseNT_011295.12GRCh38.p7<- currently shown
NM_001330332.1minus strandNP_001317261.1reverseNT_011295.12GRCh38.p7View snp on GeneModel
NM_001252.4minus strandNP_001243.1reverseNT_011295.12GRCh38.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_011295.12XM_017027523.1XP_016883012.1reverseminus strand203, 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
6586022730 rs771567002 0.000 frame shift-Asp [D]1194
contig referenceT1194
6586027725 rs770306833 0.000 missenseAHis [H]2192
contig referenceGArg [R]2192
6586028724 rs182050995 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseASer [S]1192
missenseTCys [C]1192
contig referenceCArg [R]1192
6586029723 rs772596524 0.000 synonymousAVal [V]3191
contig referenceGVal [V]3191
6586031721 rs1464785748 N.D. missenseAMet [M]1191
contig referenceGVal [V]1191
6586036716 rs1169593630 N.D. missenseGArg [R]2189
contig referenceAGln [Q]2189
6586050702 rs775892959 0.000 synonymousTThr [T]3184
contig referenceCThr [T]3184
6586057695 rs1168311363 N.D. missenseGGly [G]2182
contig referenceAAsp [D]2182
6586059693 rs760974505 0.000byFreq synonymousAThr [T]3181
contig referenceTThr [T]3181
6586065687 rs764308905 0.000byFreq synonymousGArg [R]3179
contig referenceAArg [R]3179
6586066686 rs374195856 0.000byClusterbyFreq missenseAGln [Q]2179
contig referenceGArg [R]2179
6586067685 rs368303189 0.000byCluster nonsenseT1179
contig referenceCArg [R]1179
6586070682 rs1436119236 N.D. missenseAThr [T]1178
contig referenceTSer [S]1178
6586079673 rs950733583 N.D. missenseGVal [V]1175
contig referenceCLeu [L]1175
6586083669 rs983634113 N.D. synonymousAGly [G]3173
contig referenceGGly [G]3173
6586088664 rs1342835465 N.D. missenseCPro [P]1172
contig referenceAThr [T]1172
6586092660 rs147009720 0.000byClusterbyFreq missenseALys [K]3170
contig referenceCAsn [N]3170
6586096656 rs750486802 0.000byFreq missenseTIle [I]2169
contig referenceCThr [T]2169
6586097655 rs1465856047 N.D. missenseTSer [S]1169
contig referenceAThr [T]1169
6586098654 rs754940051 0.000 synonymousTCys [C]3168
contig referenceCCys [C]3168
6586100651 rs1215657305 N.D. frame shift-His [H]3168
contig referenceCTCys [C]3168
6586105647 rs781260683 0.000byFreq missenseTIle [I]2166
contig referenceCThr [T]2166
6586110642 rs752552383 0.000 synonymousTGly [G]3164
contig referenceGGly [G]3164
6586113639 rs1261886203 N.D. synonymousGArg [R]3163
contig referenceAArg [R]3163
6586114638 rs755905794 0.000byFreq missenseAGln [Q]2163
contig referenceGArg [R]2163
6586115637 rs777600289 0.000 nonsenseT1163
contig referenceCArg [R]1163
6586116636 rs1342438752 N.D. synonymousTAla [A]3162
contig referenceCAla [A]3162
6586118634 rs1258092762 N.D. missenseAThr [T]1162
contig referenceGAla [A]1162
6586122630 rs748896965 0.000 synonymousTPro [P]3160
contig referenceCPro [P]3160
6586123629 rs756908131 0.000 missenseTLeu [L]2160
contig referenceCPro [P]2160
6586125627 rs778323980 0.000byFreq synonymousAThr [T]3159
synonymousTThr [T]3159
contig referenceGThr [T]3159
6586126626 rs372121057 0.000byClusterbyFreq missenseTMet [M]2159
contig referenceCThr [T]2159
6586128623 rs1296005971 N.D. frame shiftTAsp [D]2159
contig reference-Thr [T]2159
6586131621 rs1163351073 N.D. synonymousTArg [R]3157
contig referenceCArg [R]3157
6586133619 rs942184442 N.D. missenseTCys [C]1157
contig referenceCArg [R]1157
6586136616 rs1366006702 N.D. nonsenseT1156
contig referenceCGln [Q]1156
6586143609 rs1333611398 N.D. synonymousCIle [I]3153
contig referenceTIle [I]3153
6586145607 rs576864169 0.000byClusterbyFreqWith1000GenomeData0.0010 missenseCLeu [L]1153
contig referenceAIle [I]1153
6586153599 rs1394445954 N.D. missenseTVal [V]2150
contig referenceGGly [G]2150
6586154598 rs747409488 0.000 missenseASer [S]1150
missenseTCys [C]1150
contig referenceGGly [G]1150
6586156596 rs768964890 0.000 missenseGArg [R]2149
contig referenceAGln [Q]2149
6586158594 rs776957907 0.000 synonymousTHis [H]3148
contig referenceCHis [H]3148
6586160592 rs1277748513 N.D. missenseTTyr [Y]1148
contig referenceCHis [H]1148
6586161591 rs761983088 0.000 synonymousTPhe [F]3147
contig referenceCPhe [F]3147
6586162590 rs1304325154 N.D. missenseCSer [S]2147
contig referenceTPhe [F]2147
6586164588 rs921657369 N.D. synonymousTSer [S]3146
contig referenceCSer [S]3146
6586165587 rs140617941 0.001byClusterbyFreqWith1000GenomeData0.0004 missenseTIle [I]2146
contig referenceGSer [S]2146
6586171581 rs375410436 0.000byClusterbyFreq missenseAHis [H]2144
contig referenceGArg [R]2144
6586172580 rs1166621473 N.D. missenseTCys [C]1144
contig referenceCArg [R]1144
6586173579 rs891431960 N.D. synonymousTLeu [L]3143
contig referenceGLeu [L]3143
6586176576 rs368645120 0.000byCluster synonymousALeu [L]3142
synonymousCLeu [L]3142
contig referenceGLeu [L]3142
6586179573 rs34080876 0.002byClusterbyFreqWith1000GenomeData0.0026 synonymousTSer [S]3141
contig referenceCSer [S]3141
6586180572 rs1432011828 N.D. missenseAAsn [N]2141
contig referenceGSer [S]2141
6586184568 rs752640436 0.000byFreq missenseTPhe [F]1140
contig referenceAIle [I]1140
6586189563 rs904477221 N.D. missenseAHis [H]2138
contig referenceGArg [R]2138
6586190562 rs755994136 0.000 missenseTCys [C]1138
contig referenceCArg [R]1138
6586192560 rs1475979468 N.D. missenseTPhe [F]2137
contig referenceCSer [S]2137
6586196556 rs764025325 0.000byFreq missenseAThr [T]1136
contig referenceGAla [A]1136
6586197555 rs143146735 0.001byClusterbyFreqWith1000GenomeData0.0002 synonymousTPro [P]3135
contig referenceCPro [P]3135
6586199553 rs1471544641 N.D. missenseTSer [S]1135
contig referenceCPro [P]1135
6586201551 rs987184469 N.D. missenseTPhe [F]2134
contig referenceCSer [S]2134
6586202550 rs756925209 0.000 missenseCPro [P]1134
contig referenceTSer [S]1134
6586209543 rs1420629229 N.D. synonymousGGly [G]3131
contig referenceAGly [G]3131
6586213539 rs1297978367 N.D. missenseAGlu [E]2130
missenseCAla [A]2130
contig referenceTVal [V]2130
6586214538 rs548095306 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAMet [M]1130
contig referenceGVal [V]1130
6586215537 rs745377808 0.000byFreq synonymousAAla [A]3129
synonymousGAla [A]3129
synonymousTAla [A]3129
contig referenceCAla [A]3129
6586216536 rs1335162251 N.D. missenseGGly [G]2129
contig referenceCAla [A]2129
6586217535 rs201090975 0.000byCluster missenseTSer [S]1129
contig referenceGAla [A]1129
6586221531 rs747563621 0.000byFreq synonymousGThr [T]3127
contig referenceCThr [T]3127
6586222530 rs960164580 N.D. missenseTIle [I]2127
contig referenceCThr [T]2127
6586228524 rs1311310358 N.D. missenseAHis [H]2125
contig referenceCPro [P]2125
6586229523 rs1039759045 N.D. missenseAThr [T]1125
contig referenceCPro [P]1125
6586242510 rs1239080528 N.D. synonymousTAla [A]3120
contig referenceCAla [A]3120
6586244508 rs1283601162 N.D. missenseTSer [S]1120
contig referenceGAla [A]1120
6586245507 rs113396938 0.500 synonymousAThr [T]3119
contig referenceGThr [T]3119
6586246506 rs371201747 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTMet [M]2119
contig referenceCThr [T]2119
6586247505 rs1013642787 N.D. missenseGAla [A]1119
contig referenceAThr [T]1119
6586248504 rs148252487 0.000byClusterbyFreq synonymousAThr [T]3118
synonymousCThr [T]3118
contig referenceGThr [T]3118
6586249503 rs141875251 0.001byClusterbyFreqWith1000GenomeData0.0002 missenseTMet [M]2118
contig referenceCThr [T]2118
6586250502 rs145060542 0.000byClusterbyFreq missenseGAla [A]1118
contig referenceAThr [T]1118
6586251501 rs1471505122 N.D. synonymousTSer [S]3117
contig referenceCSer [S]3117
6586253499 rs1252546465 N.D. missenseCPro [P]1117
contig referenceTSer [S]1117
6586257495 rs1862511 0.435byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData0.3506 synonymousTCys [C]3115
synonymousTCys [C]3115
synonymousTCys [C]3115
synonymousTCys [C]3115
contig referenceCCys [C]3115
contig referenceCCys [C]3115
contig referenceCCys [C]3115
contig referenceCCys [C]3115
6586260492 rs983449250 N.D. missenseGMet [M]3114
contig referenceCIle [I]3114
6586266486 rs769281796 0.000byFreq synonymousALeu [L]3112
contig referenceGLeu [L]3112
6586269483 rs566891129 0.000byFreqWith1000GenomeData0.0002 synonymousAThr [T]3111
synonymousCThr [T]3111
contig referenceGThr [T]3111
6586270482 rs1378830614 N.D. missenseTMet [M]2111
contig referenceCThr [T]2111
6586278474 rs1467938487 N.D. synonymousAIle [I]3108
contig referenceCIle [I]3108
6586280472 rs201305066 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGVal [V]1108
contig referenceAIle [I]1108
6586283469 rs760732162 0.000byFreq missenseTTyr [Y]1107
contig referenceCHis [H]1107
6586286466 rs764119536 0.000 missenseTLeu [L]1106
contig referenceGVal [V]1106
6586289463 rs753630717 0.000 missenseGVal [V]1105
contig referenceAMet [M]1105
6586294458 rs1438852542 N.D. missenseCThr [T]2103
contig referenceTIle [I]2103
6586295457 rs200641533 0.000byClusterWith1000GenomeData0.0002 missenseGVal [V]1103
contig referenceAIle [I]1103
6586301451 rs1289768494 N.D. missenseCHis [H]1101
contig referenceGAsp [D]1101
6586303449 rs757012345 0.000byFreq missenseAHis [H]2100
contig referenceGArg [R]2100
6586309443 rs1208626658 N.D. missenseAAsn [N]298
contig referenceTIle [I]298
6586311441 rs1358541878 N.D. synonymousAArg [R]397
contig referenceTArg [R]397
6586312440 rs141989071 0.000byClusterbyFreq missenseAHis [H]297
contig referenceGArg [R]297
6586313439 rs750046562 0.000 missenseTCys [C]197
contig referenceCArg [R]197
6586320432 rs758027889 0.000 synonymousAGly [G]394
contig referenceGGly [G]394
6586322430 rs752486540 N.D. missenseCArg [R]194
contig referenceGGly [G]194
6586324428 rs975417175 N.D. missenseCThr [T]293
contig referenceALys [K]293
6586328424 rs1254991921 N.D. missenseAAsn [N]192
contig referenceGAsp [D]192
6586331421 rs779580459 0.000 synonymousTLeu [L]191
contig referenceCLeu [L]191
6586332420 rs374379314 0.000byCluster missenseCAsp [D]390
contig referenceGGlu [E]390
6586333419 rs755538200 0.000 missenseGGly [G]290
contig referenceAGlu [E]290
6586335417 rs777338721 0.000 frame shift-Ser [S]390
contig referenceAGlu [E]390
6586344408 rs781683114 0.000 synonymousALeu [L]386
contig referenceGLeu [L]386
6586346406 rs1249075331 N.D. synonymousTLeu [L]186
contig referenceCLeu [L]186
6586347405 rs1435232715 N.D. missenseALeu [L]385
contig referenceCPhe [F]385
6586351401 rs1286170718 N.D. missenseTPhe [F]284
contig referenceCSer [S]284
6586354398 rs748465079 0.000byFreq missenseAHis [H]283
contig referenceGArg [R]283
6586355397 rs1377218208 N.D. missenseTCys [C]183
contig referenceCArg [R]183
6586357395 rs1464731626 N.D. missenseAAsp [D]282
contig referenceGGly [G]282
6586362390 rs1173152171 N.D. synonymousCAla [A]380
contig referenceAAla [A]380
6586367385 rs1401081374 N.D. missenseTSer [S]179
contig referenceCPro [P]179
6586368383 rs760087832 0.000byFreq frame shiftGSer [S]280
contig reference-Ala [A]280
6586368384 rs770154237 0.000byFreq synonymousTGly [G]378
contig referenceCGly [G]378
6586369383 rs777879588 0.000 missenseAAsp [D]278
missenseCAla [A]278
contig referenceGGly [G]278
6586370382 rs749573582 0.000byFreq missenseASer [S]178
missenseTCys [C]178
contig referenceGGly [G]178
6586371381 rs771242380 0.000byFreq synonymousCGly [G]377
contig referenceGGly [G]377
6586387365 rs774636584 0.000byFreq missenseALys [K]272
missenseCThr [T]272
contig referenceGArg [R]272
6586390362 rs759672911 0.000 missenseTLeu [L]271
contig referenceCPro [P]271
6586391361 rs1329193788 N.D. missenseTSer [S]171
contig referenceCPro [P]171
6586394358 rs1478106216 N.D. missenseAAsn [N]170
contig referenceGAsp [D]170
6586400352 rs1220063851 N.D. missenseGGlu [E]168
contig referenceCGln [Q]168
6586405347 rs1258351866 N.D. missenseAGlu [E]266
missenseCAla [A]266
contig referenceGGly [G]266
6590107342 rs371243781 N.D. synonymousTHis [H]364
contig referenceCHis [H]364
6590112337 rs1340369052 N.D. missenseTTyr [Y]163
contig referenceAAsn [N]163
6590119330 rs751171093 0.000 synonymousALeu [L]360
contig referenceGLeu [L]360
6590127322 rs985168818 N.D. missenseAThr [T]158
contig referenceGAla [A]158
6590130319 rs372618360 0.000byCluster missenseAIle [I]157
contig referenceGVal [V]157
6590131318 rs1479398769 N.D. synonymousTAsp [D]356
contig referenceCAsp [D]356
6590841312 rs202182551 0.000byClusterbyFreq synonymousAGly [G]354
contig referenceGGly [G]354
6590844309 rs891353796 N.D. synonymousGLeu [L]353
contig referenceTLeu [L]353
6590847306 rs1446559138 N.D. synonymousGSer [S]352
contig referenceASer [S]352
6590848305 rs1334115062 N.D. missenseTLeu [L]252
contig referenceCSer [S]252
6590852301 rs146389258 0.000byCluster missenseALys [K]151
contig referenceGGlu [E]151
6590853300 rs1001927429 N.D. synonymousGLeu [L]350
contig referenceCLeu [L]350
6590854299 rs1034616745 N.D. missenseCPro [P]250
contig referenceTLeu [L]250
6590856297 rs1188075517 N.D. synonymousCPro [P]349
contig referenceGPro [P]349
6590857296 rs139425055 0.000byCluster missenseGArg [R]249
contig referenceCPro [P]249
6590861290 rs750225124 0.000 -247
6590862291 rs199561952 0.000byClusterWith1000GenomeData0.0146 missenseCHis [H]347
contig referenceGGln [Q]347
6590864289 rs777583938 N.D. nonsenseT147
contig referenceCGln [Q]147
6590865288 rs960367796 N.D. synonymousAGln [Q]346
contig referenceGGln [Q]346
6590867286 rs149645346 0.000byCluster missenseGGlu [E]146
contig referenceCGln [Q]146
6590872281 rs898150658 N.D. missenseTVal [V]244
contig referenceCAla [A]244
6590875278 rs749109850 0.000byFreq missenseGArg [R]243
contig referenceAGln [Q]243
6590876277 rs770660325 0.000 nonsenseT143
contig referenceCGln [Q]143
6590879274 rs1179130540 N.D. missenseTSer [S]142
contig referenceGAla [A]142
6590880273 rs1237513137 N.D. synonymousTPhe [F]341
contig referenceCPhe [F]341
6590882271 rs774106387 0.000byFreq missenseAIle [I]141
contig referenceTPhe [F]141
6590883270 rs759222859 0.000byFreq synonymousGArg [R]340
contig referenceCArg [R]340
6590884269 rs1425689366 N.D. missenseCPro [P]240
contig referenceGArg [R]240
6590888265 rs1026268289 N.D. missenseGGlu [E]139
contig referenceCGln [Q]139
6590894259 rs767072737 0.000byFreq missenseGGly [G]137
contig referenceTCys [C]137
6590896257 rs760044216 0.000byFreq missenseCAla [A]236
contig referenceTVal [V]236
6590897256 rs764665507 0.000 missenseCLeu [L]136
contig referenceGVal [V]136
6590900253 rs148772362 0.000byCluster missenseAMet [M]135
contig referenceGVal [V]135
6590901252 rs951965861 N.D. synonymousTLeu [L]334
contig referenceCLeu [L]334
6590904249 rs1465719880 N.D. missenseGTrp [W]333
contig referenceCCys [C]333
6590905248 rs1332574327 N.D. missenseTPhe [F]233
contig referenceGCys [C]233
6590909244 rs144259158 0.000byClusterbyFreq missenseGVal [V]132
contig referenceAIle [I]132
6590912241 rs1423211316 N.D. missenseAMet [M]131
contig referenceGVal [V]131
6590913240 rs984672251 N.D. synonymousALeu [L]330
contig referenceGLeu [L]330
6590918235 rs909952305 N.D. missenseASer [S]129
contig referenceGGly [G]129
6590920233 rs765737694 0.000 missenseTVal [V]228
contig referenceCAla [A]228
6590921232 rs750812571 0.000 missenseTSer [S]128
contig referenceGAla [A]128
6590924229 rs1483728296 N.D. missenseCLeu [L]127
contig referenceGVal [V]127
6590926227 rs758708878 0.000 missenseCSer [S]226
contig referenceTLeu [L]226
6590927226 rs1274696277 N.D. synonymousCLeu [L]126
contig referenceTLeu [L]126
6590929224 rs1281666411 N.D. missenseAGln [Q]225
contig referenceCPro [P]225
6590930223 rs780084590 0.000byFreq missenseAThr [T]125
contig referenceCPro [P]125
6590934219 rs747119880 0.000 missenseTPhe [F]323
contig referenceGLeu [L]323
6590935218 rs1257267487 N.D. missenseCSer [S]223
contig referenceTLeu [L]223
6590940213 rs147810644 0.000byClusterbyFreq synonymousGAla [A]321
contig referenceTAla [A]321
6590942211 rs534715855 0.000byFreqWith1000GenomeData0.0002 missenseAThr [T]121
contig referenceGAla [A]121
6590944209 rs749269246 0.000byFreq missenseAGln [Q]220
contig referenceGArg [R]220
6590945208 rs1477597031 N.D. missenseTTrp [W]120
contig referenceCArg [R]120
6590948205 rs1196788074 N.D. missenseAMet [M]119
contig referenceCLeu [L]119
6590951202 rs139447880 0.000byClusterbyFreq missenseAIle [I]118
contig referenceGVal [V]118
6590955198 rs145065586 0.000byClusterbyFreq synonymousAGly [G]316
contig referenceGGly [G]316
6590959194 rs151004469 0.000byClusterbyFreq missenseGCys [C]215
contig referenceATyr [Y]215
6590960193 rs369190575 0.000byCluster missenseCHis [H]115
contig referenceTTyr [Y]115
6590961192 rs1393613741 N.D. synonymousTPro [P]314
contig referenceCPro [P]314
6590962190 rs760406449 0.000byFreq frame shiftGGGGAArg [R]114
contig reference-Pro [P]114
6590964189 rs774936872 0.000 synonymousAArg [R]313
contig referenceGArg [R]313
6590968185 rs760261716 0.000 missenseTLeu [L]212
contig referenceGArg [R]212
6590976177 rs763748622 0.000byFreq synonymousASer [S]39
synonymousCSer [S]39
synonymousTSer [S]39
contig referenceGSer [S]39
6590977176 rs776250575 0.000 nonsenseA29
missenseTLeu [L]29
contig referenceCSer [S]29
6590979174 rs1367607751 N.D. synonymousTCys [C]38
contig referenceCCys [C]38
6590980173 rs762476680 0.000 missenseTPhe [F]28
contig referenceGCys [C]28
6590984169 rs765829846 0.000 missenseTCys [C]17
contig referenceGGly [G]17
6590989164 rs750834819 0.000 missenseAAsp [D]25
contig referenceGGly [G]25
6590990163 rs763163424 0.000 missenseCArg [R]15
contig referenceGGly [G]15
6590992161 rs370658748 N.D. missenseGGly [G]24
contig referenceAGlu [E]24
6590993160 rs1337587195 N.D. missenseALys [K]14
contig referenceGGlu [E]14
6590996157 rs1164060892 N.D. nonsenseT13
contig referenceGGlu [E]13
6590997156 rs746699223 0.000 synonymousAPro [P]32
contig referenceGPro [P]32
6590998155 rs1291041315 N.D. missenseGArg [R]22
contig referenceCPro [P]22
6591001152 rs1290546351 N.D. missenseCThr [T]21
contig referenceTMet [M]21