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SNP linked to Gene (geneID:4615) 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): 7
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_001172567.1plus strandNP_001166038.1forwardNT_022517.19GRCh38.p2<- currently shown
XM_006713170.1plus strandXP_006713233.1forwardNT_022517.19GRCh38.p2View snp on GeneModel
XM_005265172.1plus strandXP_005265229.1forwardNT_022517.19GRCh38.p2View snp on GeneModel
NM_002468.4plus strandNP_002459.2forwardNT_022517.19GRCh38.p2View snp on GeneModel
NM_001172569.1plus strandNP_001166040.1forwardNT_022517.19GRCh38.p2View snp on GeneModel
NM_001172568.1plus strandNP_001166039.1forwardNT_022517.19GRCh38.p2View snp on GeneModel
NM_001172566.1plus strandNP_001166037.1forwardNT_022517.19GRCh38.p2View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p2NT_022517.19NM_001172567.1NP_001166038.1forwardplus strand175, 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
38138662185 rs763199298 0.000byFreq missenseGVal [V]11
contig referenceAMet [M]11
38138663186 rs766590686 0.000 missenseGArg [R]21
contig referenceTMet [M]21
38138666189 rs4988455 N.D. missenseAGln [Q]22
contig referenceGArg [R]22
38138671194 rs541535441 0.000With1000GenomeData0.0002 missenseAAsn [N]14
missenseCHis [H]14
contig referenceGAsp [D]14
38138671194 rs746651350 0.000byClusterbyFreq frame shift-Pro [P]16
contig reference(19bp)Ala [A]16
38138674197 rs764146243 0.000byFreq missenseASer [S]15
contig referenceCArg [R]15
38138679202 rs753705353 0.000 synonymousAAla [A]36
contig referenceTAla [A]36
38138682205 rs367642037 N.D. missenseTAsp [D]37
contig referenceGGlu [E]37
38138684207 rs757111890 0.000 missenseTVal [V]28
contig referenceCAla [A]28
38138685208 rs778614039 0.000byFreq synonymousGAla [A]38
contig referenceTAla [A]38
38138700223 rs564488349 0.000With1000GenomeData0.0002 synonymousTAla [A]313
contig referenceCAla [A]313
38138708231 rs779461452 0.000 missenseTVal [V]216
contig referenceCAla [A]216
38138710233 rs752325925 N.D. missenseAArg [R]117
contig referenceGGly [G]117
38138714237 rs371896760 0.000byCluster missenseTVal [V]218
contig referenceGGly [G]218
38138723246 rs533607667 0.000With1000GenomeData0.0002 missenseTVal [V]221
contig referenceCAla [A]221
38138731254 rs768025686 0.000byFreq missenseAThr [T]124
contig referenceGAla [A]124
38138732255 rs777249439 0.000byFreq missenseTVal [V]224
contig referenceCAla [A]224
38138736259 rs79867863 0.010byClusterbyFreqWith1000GenomeData0.0052 synonymousGAla [A]325
contig referenceCAla [A]325
38138742265 rs763301680 0.000 synonymousTVal [V]327
contig referenceCVal [V]327
38138744267 rs771227546 0.000 missenseGCys [C]228
contig referenceCSer [S]228
38138753276 rs377224266 0.000byCluster missenseATyr [Y]231
contig referenceCSer [S]231
38138756279 rs759720432 0.000 missenseTPhe [F]232
contig referenceCSer [S]232
38138759282 rs201050825 0.002 missenseCPro [P]233
contig referenceTLeu [L]233
38138762285 rs563686976 0.000With1000GenomeData0.0002 missenseGArg [R]234
missenseTLeu [L]234
contig referenceCPro [P]234
38138763286 rs531199268 0.000With1000GenomeData0.0002 synonymousTPro [P]334
contig referenceCPro [P]334
38138766289 rs765037478 0.000byFreq synonymousTLeu [L]335
contig referenceGLeu [L]335
38138767290 rs750178090 0.000 missenseAThr [T]136
contig referenceGAla [A]136
38138782305 rs779805093 0.000 synonymousAArg [R]141
contig referenceCArg [R]141
38138792315 rs751153924 0.000byFreq missenseAHis [H]244
contig referenceGArg [R]244
38138793316 rs754580369 0.000 synonymousAArg [R]344
contig referenceCArg [R]344
38138800323 rs776336832 0.000byFreq frame shift-Val [V]148
contig referenceTCLeu [L]148
38138801324 rs1319438 N.D.byCluster missenseATyr [Y]247
contig referenceCSer [S]247
38138803326 rs2585635 N.D. missenseGVal [V]148
contig referenceCLeu [L]148
38138806329 rs372072898 0.000byClusterbyFreq missenseCLeu [L]149
contig referenceTPhe [F]149
38138813336 rs748676192 0.000byFreq missenseGSer [S]251
contig referenceAAsn [N]251
38138815338 rs770387646 0.000byFreq missenseAMet [M]152
contig referenceGVal [V]152
38138818341 rs778396641 0.000 missenseGGly [G]153
contig referenceCArg [R]153
38138819342 rs749723040 0.000 missenseTLeu [L]253
contig referenceGArg [R]253
38138827350 rs774701316 0.000 missenseCLeu [L]156
contig referenceGVal [V]156
38138830353 rs759610895 0.000 missenseAThr [T]157
contig referenceGAla [A]157
38138835358 rs772208378 0.000 synonymousAAla [A]358
contig referenceCAla [A]358
38138844367 rs775498014 0.000 synonymousAThr [T]361
contig referenceCThr [T]361
38138847370 rs555917864 N.D. synonymousAAla [A]362
contig referenceGAla [A]362
38138850373 rs989297 N.D. synonymousTLeu [L]363
contig referenceGLeu [L]363
38138852375 rs761769496 0.000 missenseTVal [V]264
contig referenceCAla [A]264
38138857380 rs765198848 0.000 missenseALys [K]166
contig referenceGGlu [E]166
38138860383 rs750337749 0.000 missenseGVal [V]167
contig referenceAMet [M]167
38138862385 rs200093616 0.000byClusterWith1000GenomeData0.0002 missenseAIle [I]367
contig referenceGMet [M]367
38138868391 rs762789361 0.000 synonymousCPhe [F]369
contig referenceTPhe [F]369
38138875398 rs766079851 0.000byFreq missenseAMet [M]172
contig referenceTLeu [L]172
38138877400 rs751226550 0.000byFreq missenseCPhe [F]372
synonymousALeu [L]372
contig referenceGLeu [L]372
38138889412 rs148994019 0.000byCluster synonymousGGln [Q]376
contig referenceAGln [Q]376
38138891414 rs752298776 0.000 missenseCPro [P]277
contig referenceTLeu [L]277
38138892415 rs755666466 0.000 synonymousALeu [L]377
contig referenceGLeu [L]377
38138903426 rs778486449 0.000byFreq missenseTVal [V]281
contig referenceCAla [A]281
38138905428 rs749808757 0.000 missenseAAsn [N]182
contig referenceGAsp [D]182
38138910433 rs771331696 0.000 synonymousTPro [P]383
contig referenceCPro [P]383
38138912435 rs761035975 N.D. missenseTIle [I]284
contig referenceCThr [T]284
38138913436 rs779090607 0.000 synonymousGThr [T]384
contig referenceTThr [T]384
38138920443 rs989298 0.011byClusterbyFreqwithHapMapFreq missenseAMet [M]187
contig referenceCLeu [L]187
38138926449 rs746126009 0.000 missenseAAsn [N]189
contig referenceGAsp [D]189
38138928451 rs772142703 0.000 synonymousTAsp [D]389
contig referenceCAsp [D]389
38138939462 rs775657633 0.000byFreq missenseAGlu [E]293
contig referenceGGly [G]293
38138945468 rs747137606 0.000byFreq missenseTLeu [L]295
contig referenceCPro [P]295
38138946469 rs768705388 0.000byFreq synonymousCPro [P]395
contig referenceTPro [P]395
38138947470 rs773200667 0.000 missenseASer [S]196
contig referenceGGly [G]196
38138952475 rs762731081 0.000 synonymousTAla [A]397
contig referenceCAla [A]397
38138959482 rs199680721 0.002byCluster missenseASer [S]1100
contig referenceGGly [G]1100
38138961484 rs373382593 0.001byClusterbyFreqWith1000GenomeData0.0006 synonymousTGly [G]3100
contig referenceCGly [G]3100
38138970493 rs143752366 0.000byCluster synonymousGLeu [L]3103
contig referenceCLeu [L]3103
38138971494 rs767329251 0.000 missenseCGln [Q]1104
contig referenceGGlu [E]1104
38138977500 rs752384820 0.000 missenseTPhe [F]1106
contig referenceCLeu [L]1106
38138982505 rs755752213 0.000byFreq synonymousAThr [T]3107
synonymousTThr [T]3107
contig referenceCThr [T]3107
38138992515 rs199396 N.D. missenseASer [S]1111
missenseTCys [C]1111
contig referenceCArg [R]1111
38138994517 rs757658854 0.000 synonymousTArg [R]3111
contig referenceCArg [R]3111
38138997520 rs779368211 0.000 synonymousTAsp [D]3112
contig referenceCAsp [D]3112
38139003526 rs746255771 0.000 synonymousAVal [V]3114
contig referenceGVal [V]3114
38139004527 rs367827634 0.000byCluster missenseGVal [V]1115
contig referenceCLeu [L]1115
38139010533 rs780309112 0.000byFreq missenseALys [K]1117
contig referenceGGlu [E]1117
38139015538 rs777220587 N.D. synonymousALeu [L]3118
contig referenceGLeu [L]3118
38139020543 rs747227684 0.000 missenseTLeu [L]2120
contig referenceCPro [P]2120
38139022545 rs768726138 0.000byFreq missenseGGly [G]1121
contig referenceASer [S]1121
38139026549 rs776633957 0.000 missenseCThr [T]2122
contig referenceTIle [I]2122
38139871559 rs760438122 0.000byFreq synonymousCAsp [D]3125
contig referenceTAsp [D]3125
38139879567 rs376805419 0.000byCluster missenseGArg [R]2128
contig referenceALys [K]2128
38139880568 rs56253885 N.D. missenseCAsn [N]3128
contig referenceGLys [K]3128
38139882570 rs369951621 0.000byCluster missenseGCys [C]2129
contig referenceATyr [Y]2129
38139885573 rs141486782 0.000byCluster missenseCThr [T]2130
contig referenceTIle [I]2130
38139899587 rs772420311 N.D. missenseALys [K]1135
contig referenceCGln [Q]1135
38139901589 rs372319724 0.000byClusterbyFreq missenseTHis [H]3135
contig referenceGGln [Q]3135
38139902590 rs750897932 0.000 missenseCGln [Q]1136
contig referenceGGlu [E]1136
38139906594 rs139197817 0.000byCluster missenseCAla [A]2137
contig referenceAGlu [E]2137
38139929617 rs189773684 0.000byClusterWith1000GenomeData0.0002 missenseAThr [T]1145
contig referenceGAla [A]1145
38139931619 rs554520522 0.000byClusterbyFreq synonymousTAla [A]3145
contig referenceCAla [A]3145
38139938626 rs758969072 N.D. missenseAAsn [N]1148
contig referenceGAsp [D]1148
38139946634 rs557961913 0.000With1000GenomeData0.0002 synonymousCSer [S]3150
contig referenceTSer [S]3150
38139949637 rs755315732 0.000 synonymousTVal [V]3151
contig referenceCVal [V]3151
38139954642 rs781329078 0.000 missenseAGln [Q]2153
contig referenceGArg [R]2153
38139962650 rs752960096 0.000 missenseALys [K]1156
contig referenceGGlu [E]1156
38139965653 rs756153218 0.000 synonymousTLeu [L]1157
contig referenceCLeu [L]1157
38139968656 rs577675871 0.000With1000GenomeData0.0002 missenseCPro [P]1158
contig referenceGAla [A]1158
38139970658 rs745818810 0.000byFreq synonymousAAla [A]3158
contig referenceGAla [A]3158
38139990678 rs772098418 0.000byFreq missenseGGly [G]2165
missenseTVal [V]2165
contig referenceAAsp [D]2165
38139993681 rs746846997 0.000 missenseAHis [H]2166
contig referenceCPro [P]2166
38140402701 rs769446050 0.000byFreq missenseTCys [C]1173
contig referenceCArg [R]1173
38140403702 rs772707495 0.000byFreq missenseAHis [H]2173
missenseTLeu [L]2173
contig referenceGArg [R]2173
38140408707 rs770424976 0.000 missenseAAsn [N]1175
contig referenceGAsp [D]1175
38140423722 rs186265242 0.001byClusterbyFreqWith1000GenomeData0.0004 YesmissenseCHis [H]1180
contig referenceTTyr [Y]1180
38140424723 rs759979054 0.000byFreq missenseGCys [C]2180
contig referenceATyr [Y]2180
38140428727 rs564072486 0.000With1000GenomeData0.0002 synonymousTCys [C]3181
contig referenceCCys [C]3181
38140443742 rs149937710 0.000byClusterWith1000GenomeData0.0002 YessynonymousAGln [Q]3186
contig referenceGGln [Q]3186
38140449748 rs760919903 0.000 synonymousTVal [V]3188
contig referenceGVal [V]3188
38140451750 rs764428425 0.000 missenseGArg [R]2189
contig referenceAGln [Q]2189
38140453752 rs145469177 0.000byCluster YesmissenseALys [K]1190
contig referenceGGlu [E]1190
38140455754 rs549914878 0.000With1000GenomeData0.0002 synonymousAGlu [E]3190
contig referenceGGlu [E]3190
38140458757 rs41285117 0.000byClusterWith1000GenomeData0.0002 YesmissenseAIle [I]3191
contig referenceGMet [M]3191
38140459758 rs751552782 0.000byFreq missenseGVal [V]1192
contig referenceAIle [I]1192
38140462761 rs201772694 0.000byClusterWith1000GenomeData0.0002 YesmissenseTTrp [W]1193
contig referenceCArg [R]1193
38140463762 rs780880522 0.000byFreq missenseAGln [Q]2193
contig referenceGArg [R]2193
38140471770 rs748012823 0.000 missenseCGln [Q]1196
contig referenceGGlu [E]1196
38140482781 rs549002582 0.000With1000GenomeData0.0002 synonymousTAsn [N]3199
contig referenceCAsn [N]3199
38140486785 rs755841635 0.000 nonsenseT1201
contig referenceCArg [R]1201
38140487786 rs566004944 0.001byFreqWith1000GenomeData0.0004 missenseAGln [Q]2201
contig referenceGArg [R]2201
38140488787 rs748875466 0.000byFreq synonymousTArg [R]3201
contig referenceAArg [R]3201
38140497796 rs770441444 0.000 missenseTPhe [F]3204
contig referenceGLeu [L]3204
38140503802 rs144836346 0.001byClusterbyFreqWith1000GenomeData0.0004 YessynonymousAVal [V]3206
contig referenceGVal [V]3206
38140509808 rs147683404 0.000byCluster YesmissenseGGlu [E]3208
contig referenceCAsp [D]3208
38140511810 rs772678256 0.000 missenseAHis [H]2209
contig referenceGArg [R]2209
38140513812 rs775840670 0.000byFreq missenseAAsn [N]1210
contig referenceGAsp [D]1210
38140515814 rs551708165 0.000With1000GenomeData0.0002 synonymousCAsp [D]3210
contig referenceTAsp [D]3210
38140528827 rs191826554 0.001byClusterbyFreqWith1000GenomeData0.0006 YesmissenseCPro [P]1215
contig referenceAThr [T]1215
38140534833 rs776995408 0.000byFreq missenseTPhe [F]1217
contig referenceGVal [V]1217
38140558857 rs762065436 0.000 missenseGVal [V]1225
contig referenceAIle [I]1225
38140560859 rs765429031 0.000 synonymousAIle [I]3225
contig referenceCIle [I]3225
38140562861 rs747962363 0.000 frame shift-Glu [E]2227
contig referenceAALys [K]2227
38140564863 rs537114532 0.000With1000GenomeData0.0002 missenseGGlu [E]1227
contig referenceALys [K]1227
38140568867 rs762909148 0.000 missenseALys [K]2228
contig referenceGArg [R]2228
38140571870 rs148149492 0.004byClusterbyFreqWith1000GenomeData0.0018 YesmissenseCSer [S]2229
contig referenceTLeu [L]2229
38140579878 rs183825810 0.000byClusterWith1000GenomeData0.0002 YessynonymousCArg [R]1232
contig referenceAArg [R]1232
38140585884 rs377443319 0.000byClusterbyFreq YesmissenseTTrp [W]1234
synonymousAArg [R]1234
contig referenceCArg [R]1234
38140586885 rs753512763 0.000byFreq missenseAGln [Q]2234
contig referenceGArg [R]2234
38140758893 rs778597415 0.000byFreq missenseASer [S]1237
contig referenceTCys [C]1237
38140760895 rs773073007 0.000 frame shift-Trp [W]3237
contig referenceCCCys [C]3237
38140763898 rs763007495 N.D. frame shift-Gly [G]3239
contig referenceCCGGAArg [R]3239
38140765900 rs750043155 0.000 missenseAGln [Q]2239
contig referenceGArg [R]2239
38140766901 rs757927088 0.000 synonymousAArg [R]3239
contig referenceGArg [R]3239
38140772907 rs766352288 0.000 frame shiftGTTrp [W]3243
contig reference-Val [V]3243
38140775910 rs779371100 0.000 synonymousAVal [V]3242
contig referenceGVal [V]3242
38140779914 rs747569171 0.000 missenseAIle [I]1244
contig referenceGVal [V]1244
38140789924 rs769242533 0.000 missenseGGly [G]2247
contig referenceAAsp [D]2247
38140814949 rs200589757 0.000byClusterWith1000GenomeData0.0002 YessynonymousTAsp [D]3255
contig referenceCAsp [D]3255
38140822957 rs748570124 0.000 missenseAAsn [N]2258
contig referenceCThr [T]2258
38140835970 rs151334142 0.000 YessynonymousTLeu [L]3262
contig referenceCLeu [L]3262
38140844979 rs763638482 0.000byFreq synonymousCSer [S]3265
contig referenceTSer [S]3265
38141135987 rs781778676 0.000 missenseTVal [V]2268
contig referenceCAla [A]2268
38141146998 rs748659894 0.000byFreq nonsenseT1272
contig referenceCArg [R]1272
381411541006 rs777953448 0.000 synonymousAIle [I]3274
contig referenceCIle [I]3274
381411661018 rs749555519 0.000byFreq synonymousTTyr [Y]3278
contig referenceCTyr [Y]3278
381411701022 rs199631431 0.000byClusterWith1000GenomeData0.0002 YesmissenseAThr [T]1280
contig referenceGAla [A]1280
381411741026 rs150473880 0.000byCluster YesmissenseALys [K]2281
contig referenceTMet [M]2281
381411991051 rs746009580 0.000 synonymousTLeu [L]3289
contig referenceGLeu [L]3289
381412021054 rs374614507 N.D. YesmissenseTSer [S]3290
contig referenceGArg [R]3290
381412061058 rs772137830 0.000 missenseGVal [V]1292
contig referenceAIle [I]1292
381412111063 rs776556775 0.000 synonymousCThr [T]3293
contig referenceTThr [T]3293
381412121064 rs761677852 0.000byFreq missenseAIle [I]1294
contig referenceGVal [V]1294
381412181070 rs370623345 0.000byClusterbyFreq YesmissenseAAsn [N]1296
contig referenceGAsp [D]1296
381412291081 rs776395883 N.D. missenseALys [K]3299
contig referenceCAsn [N]3299
381412321084 rs772838610 0.000byFreq synonymousTPro [P]3300
contig referenceCPro [P]3300
381412391091 rs775722793 0.000 frame shift-Asn [N]1303
contig referenceALys [K]1303
381412551107 rs138284536 0.000byCluster YesmissenseTIle [I]2308
contig referenceCThr [T]2308
381412571109 rs765995806 0.000 missenseTCys [C]1309
contig referenceCArg [R]1309
381412631115 rs751208476 0.000 missenseAThr [T]1311
contig referenceGAla [A]1311
381412681120 rs754600491 0.000 missenseCAsn [N]3312
contig referenceGLys [K]3312
381412701122 rs767079920 0.000 missenseTVal [V]2313
contig referenceCAla [A]2313
381412711123 rs375388881 0.000byClusterbyFreq YessynonymousAAla [A]3313
synonymousTAla [A]3313
contig referenceCAla [A]3313

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