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SNP linked to Gene (geneID:2922) 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
XM_017025714.1plus strandXP_016881203.1forwardNT_010966.15GRCh38.p7<- currently shown
XM_017025713.1plus strandXP_016881202.1forwardNT_010966.15GRCh38.p7View snp on GeneModel
XM_017025712.1plus strandXP_016881201.1forwardNT_010966.15GRCh38.p7View snp on GeneModel
XM_011525933.2plus strandXP_011524235.1forwardNT_010966.15GRCh38.p7View snp on GeneModel
NM_002091.4plus strandNP_002082.2forwardNT_010966.15GRCh38.p7View snp on GeneModel
NM_001012513.2plus strandNP_001012531.1forwardNT_010966.15GRCh38.p7View snp on GeneModel
NM_001012512.2plus strandNP_001012530.1forwardNT_010966.15GRCh38.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_010966.15XM_017025714.1XP_016881203.1forwardplus strand160, 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
59220267100 rs914840824 N.D. missenseGArg [R]21
contig referenceTMet [M]21
59220269102 rs1433318595 N.D. missenseASer [S]12
missenseGGly [G]12
missenseTCys [C]12
contig referenceCArg [R]12
59220270103 rs760680754 0.000 missenseAHis [H]22
contig referenceGArg [R]22
59220271104 rs1285944547 N.D. synonymousGArg [R]32
contig referenceCArg [R]32
59220272105 rs1386449278 N.D. missenseASer [S]13
missenseCArg [R]13
contig referenceGGly [G]13
59220273106 rs1456647466 N.D. missenseAAsp [D]23
contig referenceGGly [G]23
59220275108 rs1062557 0.434byClusterbyFreqwith2hitWith1000GenomeData0.2911 missenseASer [S]14
contig referenceCArg [R]14
59220276109 rs1390591020 N.D. missenseTLeu [L]24
contig referenceGArg [R]24
59220278111 rs1433988710 N.D. nonsenseT15
contig referenceGGlu [E]15
59220281114 rs1277194228 N.D. missenseTPhe [F]16
contig referenceCLeu [L]16
59220283116 rs372288358 0.000byClusterbyFreqWith1000GenomeData0.0010 synonymousTLeu [L]36
contig referenceCLeu [L]36
59220284117 rs1353858043 N.D. missenseTSer [S]17
contig referenceCPro [P]17
59220284117 rs1367152730 N.D. (15bp) [LALVL]115
59220285118 rs754813828 0.000 missenseAGln [Q]27
missenseGArg [R]27
missenseTLeu [L]27
contig referenceCPro [P]27
59220286119 rs1285273990 N.D. synonymousAPro [P]37
synonymousTPro [P]37
contig referenceGPro [P]37
59220287120 rs746684602 N.D. synonymousTLeu [L]18
contig referenceCLeu [L]18
59220288121 rs765015033 0.002byFreq missenseCPro [P]28
contig referenceTLeu [L]28
59220289122 rs1208668613 N.D. synonymousALeu [L]38
contig referenceGLeu [L]38
59220292125 rs1021058232 N.D. synonymousAVal [V]39
synonymousGVal [V]39
contig referenceCVal [V]39
59220295128 rs562856652 0.000With1000GenomeData0.0004 synonymousALeu [L]310
synonymousCLeu [L]310
contig referenceGLeu [L]310
59220297130 rs1485982760 N.D. missenseCPro [P]211
contig referenceTLeu [L]211
59220298131 rs1219799679 N.D. synonymousALeu [L]311
contig referenceGLeu [L]311
59220299132 rs35957920 0.001byClusterbyFreq missenseAThr [T]112
missenseCPro [P]112
contig referenceGAla [A]112
59220300133 rs1001063414 N.D. missenseGGly [G]212
contig referenceCAla [A]212
59220302135 rs1192504248 N.D. missenseGVal [V]113
contig referenceCLeu [L]113
59220303136 rs1409147340 N.D. missenseGArg [R]213
contig referenceTLeu [L]213
59220304137 rs1471950654 N.D. synonymousALeu [L]313
contig referenceGLeu [L]313
59220305138 rs750431094 0.000byFreq missenseCLeu [L]114
missenseTPhe [F]114
contig referenceGVal [V]114
59220306139 rs1414063033 N.D. missenseCAla [A]214
contig referenceTVal [V]214
59220315148 rs1403453040 N.D. missenseCPro [P]217
missenseGArg [R]217
contig referenceTLeu [L]217
59220316149 rs1042431 N.D.byCluster synonymousALeu [L]317
contig referenceGLeu [L]317
59220319152 rs756187683 0.000 synonymousAAla [A]318
contig referenceGAla [A]318
59220321154 rs780757444 0.000 missenseTLeu [L]219
contig referenceCPro [P]219
59220323156 rs1242120837 N.D. frame shiftGAla [A]122
contig reference-Arg [R]122
59220324157 rs1437469435 N.D. frame shift-Glu [E]222
contig referenceGArg [R]222
59220326159 rs1305130444 N.D. missenseCArg [R]121
contig referenceGGly [G]121
59220328161 rs530053709 0.010byFreqWith1000GenomeData0.0012 synonymousAGly [G]321
contig referenceGGly [G]321
59220329162 rs1227832389 N.D. synonymousAArg [R]122
contig referenceCArg [R]122
59220330163 rs1289585119 N.D. missenseAGln [Q]222
missenseCPro [P]222
missenseTLeu [L]222
contig referenceGArg [R]222
59220333166 rs991088817 N.D. missenseTVal [V]223
contig referenceCAla [A]223
59220335168 rs1227033855 N.D. missenseAIle [I]124
missenseTPhe [F]124
contig referenceGVal [V]124
59220336169 rs1289624441 N.D. missenseCAla [A]224
contig referenceTVal [V]224
59220337170 rs769208077 0.000 synonymousTVal [V]324
contig referenceCVal [V]324
59220339172 rs779351362 0.000 missenseAGln [Q]225
contig referenceCPro [P]225
59220340173 rs1223347417 N.D. synonymousCPro [P]325
synonymousTPro [P]325
contig referenceGPro [P]325
59220346179 rs1249114607 N.D. synonymousGPro [P]327
contig referenceTPro [P]327
59220347180 rs747850498 0.000 missenseAThr [T]128
missenseTSer [S]128
contig referenceGAla [A]128
59220348181 rs535775593 0.000byCluster missenseAGlu [E]228
contig referenceCAla [A]228
59220350183 rs1253971309 N.D. missenseASer [S]129
contig referenceGGly [G]129
59220351184 rs1471771182 N.D. missenseAAsp [D]229
contig referenceGGly [G]229
59220352185 rs772806763 0.000 synonymousAGly [G]329
contig referenceCGly [G]329
59220355188 rs1414284155 N.D. synonymousGGly [G]330
contig referenceAGly [G]330
59220358191 rs754582998 N.D. synonymousAGly [G]331
contig referenceGGly [G]331
59220361194 rs1406834405 N.D. synonymousAThr [T]332
contig referenceCThr [T]332
59220362195 rs760140288 0.000 missenseAMet [M]133
missenseCLeu [L]133
contig referenceGVal [V]133
59220368201 rs1485501052 N.D. missenseTSer [S]135
contig referenceAThr [T]135
59220371204 rs1430364267 N.D. missenseCGln [Q]136
contig referenceALys [K]136
59220373206 rs1343643994 N.D. missenseCAsn [N]336
contig referenceGLys [K]336
59220374207 rs918128880 N.D. missenseTLeu [L]137
contig referenceAMet [M]137
59220375208 rs776619857 0.000byFreq missenseCThr [T]237
contig referenceTMet [M]237
59220376209 rs971097853 N.D. missenseAIle [I]337
contig referenceGMet [M]337
59220377210 rs1205705858 N.D. missenseGAsp [D]138
contig referenceTTyr [Y]138
59220381214 rs759404766 0.000 missenseGArg [R]239
missenseTLeu [L]239
contig referenceCPro [P]239
59220382215 rs548447111 0.000With1000GenomeData0.0002 synonymousAPro [P]339
contig referenceGPro [P]339
59220383216 rs1446482701 N.D. missenseTCys [C]140
contig referenceCArg [R]140
59220384217 rs1284073481 N.D. missenseTLeu [L]240
contig referenceGArg [R]240
59220387220 rs1357534778 N.D. missenseAAsp [D]241
contig referenceGGly [G]241
59220388221 rs1248594632 N.D. synonymousAGly [G]341
contig referenceCGly [G]341
59220393226 rs1272109877 N.D. missenseGArg [R]243
contig referenceAHis [H]243
59220398231 rs1341010373 N.D. missenseTSer [S]145
contig referenceGAla [A]145
59220399232 rs1205343320 N.D. missenseTVal [V]245
contig referenceCAla [A]245
59220400233 rs765033630 0.000 synonymousTAla [A]345
contig referenceGAla [A]345
59225493239 rs1398754723 N.D. synonymousAGly [G]347
contig referenceGGly [G]347
59225494240 rs1412796022 N.D. missenseAAsn [N]148
contig referenceCHis [H]148
59225496242 rs199962860 0.000byClusterbyFreq synonymousTHis [H]348
contig referenceCHis [H]348
59225501247 rs368410424 0.000byCluster missenseCThr [T]250
contig referenceTMet [M]250
59225505251 rs780275131 0.000 synonymousAGly [G]351
contig referenceGGly [G]351
59225505251 rs1419085149 N.D. frame shiftAGlu [E]354
contig reference-Ser [S]354
59225507253 rs1454976447 N.D. missenseGArg [R]252
contig referenceALys [K]252
59225515261 rs375754489 N.D.byCluster missenseGAla [A]155
contig referenceAThr [T]155
59225516262 rs553281716 0.000byClusterbyFreqWith1000GenomeData0.0010 missenseTIle [I]255
contig referenceCThr [T]255
59225517263 rs915827950 N.D. synonymousCThr [T]355
contig referenceAThr [T]355
59225519265 rs1363352766 N.D. missenseAGlu [E]256
contig referenceGGly [G]256
59225520266 rs1228707325 N.D. synonymousAGly [G]356
contig referenceGGly [G]356
59225522268 rs755484444 0.000 missenseGGly [G]257
contig referenceAGlu [E]257
59225524270 rs749552860 0.000byClusterbyFreq -160
59225526272 rs1200140681 N.D. synonymousGSer [S]358
contig referenceTSer [S]358
59225528274 rs1199364396 N.D. frame shift-Phe [F]259
contig referenceCSer [S]259
59225532278 rs146673900 0.000byClusterWith1000GenomeData0.0002 synonymousCSer [S]360
contig referenceTSer [S]360
59225533279 rs779441971 0.000 missenseCLeu [L]161
contig referenceGVal [V]161
59225535281 rs1281448562 N.D. synonymousAVal [V]361
contig referenceTVal [V]361
59225536282 rs748418136 0.000 missenseGAla [A]162
contig referenceTSer [S]162
59225537283 rs772447385 0.000 missenseTPhe [F]262
contig referenceCSer [S]262
59225543289 rs143274265 0.000byClusterbyFreqWith1000GenomeData0.0010 missenseCThr [T]264
contig referenceGArg [R]264
59225548294 rs922271424 N.D. missenseGGly [G]166
contig referenceASer [S]166
59225550296 rs746657365 0.000 missenseAArg [R]366
synonymousTSer [S]366
contig referenceCSer [S]366
59225555301 rs770435339 0.000 missenseTMet [M]268
contig referenceALys [K]268
59225557303 rs763897305 N.D. nonsenseT169
contig referenceCGln [Q]169
59225566312 rs1395756329 N.D. TCCIle [I]171
59225569315 rs1374974066 N.D. missenseALys [K]173
contig referenceGGlu [E]173
59225572318 rs374866055 0.000byClusterbyFreq missenseGAsp [D]174
contig referenceTTyr [Y]174
59225577323 rs1172062214 N.D. synonymousAIle [I]375
contig referenceCIle [I]375
59225579325 rs759496699 0.000 missenseALys [K]276
contig referenceGArg [R]276
59225582328 rs769683442 0.000 nonsenseA277
contig referenceGTrp [W]277
59225584330 rs1333945053 N.D. -179
59225590336 rs929016110 N.D. missenseAThr [T]180
contig referenceGAla [A]180
59225592338 rs377146993 N.D.byCluster synonymousCAla [A]380
contig referenceTAla [A]380
59225593339 rs775468036 0.000 missenseTSer [S]181
contig referenceGAla [A]181
59225615361 rs368021851 0.000byClusterbyFreq missenseALys [K]288
missenseCThr [T]288
contig referenceTIle [I]288
59225624370 rs371397932 0.000byClusterbyFreq missenseGArg [R]291
contig referenceALys [K]291
59225624370 rs1436233013 N.D. -292
59225631377 rs760912262 0.000 synonymousTAsn [N]393
contig referenceCAsn [N]393
59225632378 rs1231980585 N.D. missenseGGly [G]194
contig referenceAArg [R]194
59225641387 rs1285895346 N.D. missenseALys [K]197
contig referenceCGln [Q]197
59225643389 rs1274938235 N.D. synonymousAGln [Q]397
contig referenceGGln [Q]397
59225644390 rs766578272 0.000 missenseTSer [S]198
contig referenceCPro [P]198
59225646392 rs753920684 0.000byFreq synonymousCPro [P]398
contig referenceAPro [P]398
59225648394 rs1379154049 N.D. missenseTLeu [L]299
contig referenceCPro [P]299
59225656402 rs755573242 0.000 nonsenseT1102
contig referenceALys [K]1102
59225657403 rs894438051 N.D. missenseGArg [R]2102
contig referenceALys [K]2102
59225659405 rs1465215260 N.D. missenseAThr [T]1103
contig referenceGAla [A]1103
59225661407 rs375963114 0.000byClusterbyFreq synonymousAAla [A]3103
contig referenceCAla [A]3103
59225663409 rs557078479 0.000With1000GenomeData0.0002 missenseCPro [P]2104
contig referenceTLeu [L]2104
59225669415 rs753221724 0.000 missenseTIle [I]2106
contig referenceAAsn [N]2106
59225671417 rs767572673 0.000byCluster frame shiftAGCAAla [A]1109
contig reference-Pro [P]1109
59225673419 rs1186618934 N.D. missenseTHis [H]3107
contig referenceGGln [Q]3107
59225674420 rs758744205 0.000byFreq nonsenseT1108
missenseALys [K]1108
contig referenceCGln [Q]1108
59225677423 rs148328512 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseAThr [T]1109
missenseGAla [A]1109
missenseTSer [S]1109
contig referenceCPro [P]1109
59225681427 rs200302824 0.000byClusterbyFreq missenseTLeu [L]2110
contig referenceCSer [S]2110
59225682428 rs55796466 0.002byClusterbyFreqWith1000GenomeData0.0008 synonymousASer [S]3110
synonymousTSer [S]3110
contig referenceGSer [S]3110
59225684430 rs749245806 0.000byFreq nonsenseA2111
contig referenceGTrp [W]2111
59225695441 rs554385679 0.000With1000GenomeData0.0002 missenseAAsn [N]1115
missenseCHis [H]1115
contig referenceGAsp [D]1115
59225698444 rs1446293557 N.D. -1117
59225700446 rs774136101 0.000 missenseAArg [R]3116
contig referenceCSer [S]3116
59225706452 rs993880506 N.D. synonymousTAsn [N]3118
contig referenceCAsn [N]3118
59225707453 rs750477305 0.000 frame shiftATCCTyr [Y]1119
contig reference-Phe [F]1119
59225710456 rs756175601 0.000 frame shift-Cys [C]1120
contig referenceAAAGALys [K]1120
59225715461 rs15526 0.050byClusterbyFreqWith1000GenomeData0.0381 synonymousCAsp [D]3121
contig referenceTAsp [D]3121
59225717463 rs766668240 0.000 missenseAGlu [E]2122
contig referenceTVal [V]2122
59225718464 rs776958526 0.000 synonymousCVal [V]3122
contig referenceAVal [V]3122
59225719465 rs1359402258 N.D. missenseASer [S]1123
contig referenceGGly [G]1123
59225727473 rs759735431 0.000byFreq synonymousGLys [K]3125
contig referenceALys [K]3125
59225731477 rs765343222 0.000byFreq missenseGGlu [E]1127
contig referenceALys [K]1127
59230428484 rs776979652 N.D. missenseATyr [Y]2129
contig referenceCSer [S]2129
59230430486 rs753348380 0.000 nonsenseT1130
contig referenceCGln [Q]1130
59230432488 rs1053290376 N.D. synonymousGGln [Q]3130
contig referenceAGln [Q]3130
59230433489 rs754415708 0.000byFreq missenseTCys [C]1131
contig referenceCArg [R]1131
59230434490 rs779038565 0.000 missenseAHis [H]2131
contig referenceGArg [R]2131
59230435491 rs1031631158 N.D.byCluster frame shiftGAAGLys [K]3135
contig reference-Asn [N]3135
59230436492 rs149962068 0.058byClusterbyFreqWith1000GenomeData0.0156 frame shift-Thr [T]1134
contig referenceGAAGArg [R]1134
59230438494 rs185933795 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousGGlu [E]3132
contig referenceAGlu [E]3132
59230440496 rs772055883 0.000byFreq missenseAGlu [E]2133
contig referenceGGly [G]2133
59230447503 rs1483207775 N.D. synonymousTAsn [N]3135
contig referenceCAsn [N]3135
59230448504 rs1204800563 N.D. missenseTSer [S]1136
contig referenceCPro [P]1136
59230449505 rs1245376990 N.D. missenseTLeu [L]2136
contig referenceCPro [P]2136
59230452508 rs1351072261 N.D. missenseTLeu [L]2137
contig referenceAGln [Q]2137
59230455511 rs1307329394 N.D. missenseCPro [P]2138
contig referenceTLeu [L]2138
59230462518 rs1448001544 N.D. synonymousAGln [Q]3140
contig referenceGGln [Q]3140
59230467523 rs868843278 N.D. synonymousA2142
contig referenceG2142
59230547603 rs1196835897 N.D. -