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SNP linked to Gene (geneID:11154) 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): 9
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_001254729.1plus strandNP_001241658.1forwardNT_026437.13GRCh38.p7<- currently shown
XM_011536372.2plus strandXP_011534674.1forwardNT_026437.13GRCh38.p7View snp on GeneModel
XM_011536371.2plus strandXP_011534673.1forwardNT_026437.13GRCh38.p7View snp on GeneModel
XM_005267293.4plus strandXP_005267350.1forwardNT_026437.13GRCh38.p7View snp on GeneModel
NM_007077.4plus strandNP_009008.2forwardNT_026437.13GRCh38.p7View snp on GeneModel
NM_001254728.1plus strandNP_001241657.1forwardNT_026437.13GRCh38.p7View snp on GeneModel
NM_001254727.1plus strandNP_001241656.1forwardNT_026437.13GRCh38.p7View snp on GeneModel
NM_001254726.1plus strandNP_001241655.1forwardNT_026437.13GRCh38.p7View snp on GeneModel
NM_001128126.2plus strandNP_001121598.1forwardNT_026437.13GRCh38.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_026437.13NM_001254729.1NP_001241658.1forwardplus strand128, 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
31066198391 rs755820725 0.000 missenseALys [K]21
missenseCThr [T]21
contig referenceTMet [M]21
31066199392 rs1270334853 N.D. missenseAIle [I]31
contig referenceGMet [M]31
31066200393 rs753441774 0.000 frame shift-Lys [K]12
contig referenceATIle [I]12
31066200393 rs1046623045 N.D. missenseGVal [V]12
contig referenceAIle [I]12
31066202395 rs886622969 N.D. synonymousTIle [I]32
contig referenceAIle [I]32
31066205398 rs763827785 0.000 synonymousGLys [K]33
contig referenceALys [K]33
31066207400 rs753607670 0.000 missenseGCys [C]24
contig referenceTPhe [F]24
31066213406 rs1335804396 N.D. missenseCPro [P]26
contig referenceTLeu [L]26
31066218411 rs1417565216 N.D. missenseAMet [M]18
contig referenceGVal [V]18
31066222415 rs757085151 0.000 missenseGSer [S]29
contig referenceAAsn [N]29
31066225418 rs147135554 0.001byClusterbyFreqWith1000GenomeData0.0004 YesmissenseGArg [R]210
contig referenceALys [K]210
31066226419 rs1450119046 N.D. synonymousGLys [K]310
contig referenceALys [K]310
31066227420 rs1407343539 N.D. missenseGGlu [E]111
contig referenceCGln [Q]111
31066228421 rs750440689 0.000 missenseCPro [P]211
missenseGArg [R]211
contig referenceAGln [Q]211
31066230423 rs996367496 N.D. missenseAArg [R]112
contig referenceGGly [G]112
31066232425 rs1176131252 N.D. synonymousAGly [G]312
contig referenceGGly [G]312
31066238431 rs1293856064 N.D. synonymousCThr [T]314
contig referenceTThr [T]314
31066239432 rs754944359 0.000byFreq nonsenseT115
missenseGGly [G]115
contig referenceCArg [R]115
31066241434 rs1245365922 N.D. frame shift-Phe [F]316
contig referenceALeu [L]316
31066243436 rs369261300 0.000 YesmissenseCPro [P]216
contig referenceTLeu [L]216
31066248441 rs1310210810 N.D. missenseGGlu [E]118
contig referenceALys [K]118
31066250443 rs1227702779 N.D. synonymousALys [K]318
contig referenceGLys [K]318
31066261454 rs748266890 0.000byFreq missenseGArg [R]222
contig referenceAHis [H]222
31066261454 rs761598367 0.000 frame shift-Arg [R]222
contig referenceATHis [H]222
31066263456 rs778176081 0.000byFreq missenseAMet [M]123
contig referenceGVal [V]123
31066266459 rs61976851 0.000byClusterbyFreq YesmissenseAAsn [N]124
contig referenceGAsp [D]124
31066273466 rs1212833763 N.D. missenseCThr [T]226
contig referenceAAsn [N]226
31066276469 rs771493367 0.000 missenseTMet [M]227
contig referenceALys [K]227
31066278471 rs112987601 0.000byClusterbyFreq YesmissenseTCys [C]128
contig referenceCArg [R]128
31066279472 rs201972703 0.000byClusterbyFreqWith1000GenomeData0.0006 YesmissenseAHis [H]228
contig referenceGArg [R]228
31066282475 rs557132648 0.000byFreqWith1000GenomeData0.0002 missenseGArg [R]229
missenseTIle [I]229
contig referenceCThr [T]229
31066288481 rs1437415782 N.D. missenseCPro [P]231
contig referenceTLeu [L]231
31066292485 rs760144093 0.000 missenseCAsp [D]332
contig referenceAGlu [E]332
31066294487 rs763713689 0.000byFreq missenseALys [K]233
missenseGArg [R]233
contig referenceCThr [T]233
31066298491 rs1402600124 N.D. missenseCAsp [D]334
contig referenceAGlu [E]334
31066302495 rs761590094 0.000 missenseGVal [V]136
contig referenceAIle [I]136
31066303496 rs144420600 0.000With1000GenomeData0.0002 YesmissenseCThr [T]236
contig referenceTIle [I]236
31066307500 rs765019149 N.D. synonymousALys [K]337
contig referenceGLys [K]337
31066308501 rs764643375 0.000byFreq frame shift-Ala [A]138
contig referenceASer [S]138
31066308501 rs1319650662 N.D. missenseGGly [G]138
contig referenceASer [S]138
31066309502 rs750267635 0.000 missenseAAsn [N]238
contig referenceGSer [S]238
31066312505 rs749987668 0.000byFreq frame shift-Phe [F]239
contig referenceGCys [C]239
31066321514 rs142216642 0.000byClusterbyFreq YesmissenseAGln [Q]242
contig referenceGArg [R]242
31066327520 rs756324132 0.000 missenseTIle [I]244
contig referenceAAsn [N]244
31066329522 rs377744052 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseALys [K]145
contig referenceGGlu [E]145
31066334527 rs749529562 0.000 synonymousGGln [Q]346
contig referenceAGln [Q]346
31069845530 rs777974629 0.000 frame shift-Phe [F]348
contig referenceCTSer [S]348
31069845530 rs780605333 0.000 synonymousTCys [C]347
contig referenceCCys [C]347
31069847532 rs1167418900 N.D. missenseTPhe [F]248
contig referenceCSer [S]248
31069848533 rs1178706370 N.D. synonymousCSer [S]348
contig referenceTSer [S]348
31069851536 rs747518321 0.000 missenseGLeu [L]349
contig referenceCPhe [F]349
31069852537 rs201008573 N.D.With1000GenomeData YesmissenseGVal [V]150
contig referenceAIle [I]150
31069853538 rs1407285970 N.D. missenseCThr [T]250
contig referenceTIle [I]250
31069857542 rs1321879123 N.D. synonymousGGlu [E]351
contig referenceAGlu [E]351
31069858543 rs150801272 0.001byClusterbyFreq YesmissenseCHis [H]152
contig referenceTTyr [Y]152
31069859544 rs776138091 0.000 missenseGCys [C]252
contig referenceATyr [Y]252
31069864549 rs368658371 0.000byClusterbyFreq YesmissenseTTyr [Y]154
contig referenceGAsp [D]154
31069872557 rs371132403 0.000byClusterbyFreq YessynonymousALys [K]356
contig referenceGLys [K]356
31069875560 rs374522050 0.000byClusterbyFreq YessynonymousALeu [L]357
contig referenceGLeu [L]357
31069876561 rs1265501871 N.D. missenseCLeu [L]158
contig referenceAIle [I]158
31069879564 rs762806583 0.000 missenseCHis [H]159
contig referenceTTyr [Y]159
31069882567 rs545328119 0.000byFreqWith1000GenomeData0.0002 missenseTTrp [W]160
contig referenceCArg [R]160
31069883568 rs370582826 0.000byClusterbyFreq YesmissenseAGln [Q]260
contig referenceGArg [R]260
31069884569 rs1252944335 N.D. synonymousAArg [R]360
contig referenceGArg [R]360
31069885570 rs1488470578 N.D. missenseGGlu [E]161
contig referenceCGln [Q]161
31069892577 rs998242922 N.D. missenseTVal [V]263
contig referenceCAla [A]263
31069894579 rs367967945 0.000byCluster YesmissenseAThr [T]164
contig referenceGAla [A]164
31069899584 rs759570945 0.000 synonymousTLeu [L]365
contig referenceCLeu [L]365
31069903588 rs764231703 0.000 missenseGVal [V]167
contig referenceAIle [I]167
31069904589 rs753939291 0.000 missenseCThr [T]267
contig referenceTIle [I]267
31069908593 rs757463330 0.000 synonymousAVal [V]368
contig referenceGVal [V]368
31069913598 rs1369102580 N.D. missenseCAla [A]270
contig referenceGGly [G]270
31069914599 rs765484259 0.000byFreq synonymousTGly [G]370
contig referenceAGly [G]370
31069925610 rs941877660 N.D. missenseTIle [I]274
contig referenceCThr [T]274
31069926611 rs554442025 0.000byFreqWith1000GenomeData0.0002 synonymousCThr [T]374
synonymousGThr [T]374
contig referenceTThr [T]374
31069929614 rs955904625 N.D. missenseCAsp [D]375
missenseTAsp [D]375
synonymousAGlu [E]375
contig referenceGGlu [E]375
31072907617 rs144109125 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousTAsn [N]376
contig referenceCAsn [N]376
31072908618 rs568176223 0.000byFreqWith1000GenomeData0.0002 missenseALys [K]177
contig referenceGGlu [E]177
31072913623 rs1482244592 N.D. missenseAIle [I]378
contig referenceGMet [M]378
31072916626 rs1203024767 N.D. synonymousCAla [A]379
contig referenceTAla [A]379
31072923633 rs766687051 0.000 nonsenseT182
contig referenceGGlu [E]182
31072928638 rs979862829 N.D. synonymousTPhe [F]383
contig referenceCPhe [F]383
31072931641 rs751887034 0.000byFreq missenseGMet [M]384
contig referenceTIle [I]384
31072933643 rs1478499890 N.D. missenseTLeu [L]285
contig referenceAHis [H]285
31072938648 rs927006623 N.D. missenseCLeu [L]187
contig referenceTPhe [F]187
31072939649 rs1180692709 N.D. missenseGCys [C]287
contig referenceTPhe [F]287
31072940650 rs376411467 0.000byCluster YesmissenseALeu [L]387
contig referenceTPhe [F]387
31072947657 rs535501562 0.000byFreqWith1000GenomeData0.0002 missenseAIle [I]190
contig referenceGVal [V]190
31072952662 rs1418794794 N.D. synonymousGLeu [L]391
contig referenceALeu [L]391
31072957667 rs1268387438 N.D. missenseCAla [A]293
contig referenceAGlu [E]293
31072958668 rs1177261674 N.D. missenseCAsp [D]393
contig referenceGGlu [E]393
31072963673 rs781652526 0.000 missenseGCys [C]295
contig referenceTPhe [F]295
31072966676 rs1056766848 N.D. missenseAAsn [N]296
contig referenceGSer [S]296
31072968678 rs200440467 0.000byClusterbyFreqWith1000GenomeData0.0002 YesnonsenseT197
synonymousAArg [R]197
contig referenceCArg [R]197
31072969679 rs183487893 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseAGln [Q]297
contig referenceGArg [R]297
31080573684 rs756850678 0.000 missenseCArg [R]199
contig referenceASer [S]199
31080583694 rs915188161 N.D. missenseTVal [V]2102
contig referenceAAsp [D]2102
31092907696 rs778878068 N.D. missenseGVal [V]1103
contig referenceAIle [I]1103
31092908697 rs1167119788 N.D. missenseCThr [T]2103
contig referenceTIle [I]2103
31092923712 rs572324856 0.000With1000GenomeData0.0002 missenseGGly [G]2108
contig referenceAAsp [D]2108
31092935724 rs1264956108 N.D. missenseGSer [S]2112
contig referenceTIle [I]2112
31092936725 rs1325707979 N.D. synonymousTIle [I]3112
contig referenceCIle [I]3112
31092951740 rs1054419994 N.D. missenseTIle [I]3117
contig referenceGMet [M]3117
31092952741 rs1201858111 N.D. missenseCLeu [L]1118
contig referenceGVal [V]1118
31092955744 rs1439553991 N.D. synonymousCLeu [L]1119
contig referenceTLeu [L]1119
31092961750 rs745905282 N.D. missenseASer [S]1121
contig referenceGGly [G]1121
31092967756 rs1262685297 N.D. missenseGVal [V]1123
contig referenceAIle [I]1123
31092970759 rs1481075148 N.D. missenseAMet [M]1124
contig referenceGVal [V]1124
31092973762 rs1197785180 N.D. missenseALys [K]1125
contig referenceGGlu [E]1125
31092978767 rs1179210609 N.D. synonymousCThr [T]3126
contig referenceTThr [T]3126
31092982771 rs1315621162 N.D. missenseGGly [G]1128
contig referenceAArg [R]1128
31092998787 rs1248829587 N.D. missenseTVal [V]2133
contig referenceCAla [A]2133
31092999788 rs1418884415 N.D. synonymousTAla [A]3133
contig referenceCAla [A]3133
31093000789 rs1200730948 N.D. missenseTSer [S]1134
contig referenceCPro [P]1134
31093003792 rs915512149 N.D. missenseGVal [V]1135
synonymousTLeu [L]1135
contig referenceCLeu [L]1135
31093007796 rs542941475 0.000With1000GenomeData0.0002 missenseCPro [P]2136
contig referenceTLeu [L]2136
31093015804 rs1175067705 N.D. frame shift-Val [V]1140
contig referenceGATAALys [K]1140
31093016805 rs948007654 N.D. missenseGGly [G]2139
contig referenceAAsp [D]2139
31093018807 rs1045096152 N.D. missenseCGln [Q]1140
missenseGGlu [E]1140
contig referenceALys [K]1140
31093020809 rs758351882 0.000 synonymousALys [K]3140
contig referenceGLys [K]3140
31093022811 rs1329879414 N.D. missenseALys [K]2141
contig referenceTMet [M]2141
31093023812 rs1395448281 N.D. missenseCIle [I]3141
contig referenceGMet [M]3141
31093026815 rs1387171975 N.D. synonymousGSer [S]3142
contig referenceASer [S]3142
31093034823 rs1398316301 N.D. CSer [S]2145
contig referenceG2145