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SNP linked to Gene (geneID:689) 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): 2
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_001207.4plus strandNP_001198.2forwardNT_034772.7GRCh38.p7<- currently shown
NM_001037637.1plus strandNP_001032726.1forwardNT_034772.7GRCh38.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_034772.7NM_001207.4NP_001198.2forwardplus strand179, 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
73498589165 rs1445954163 N.D. -
73498650226 rs781134656 0.000byFreq -
73498668244 rs543140817 0.000With1000GenomeData0.0002 missenseGVal [V]11
contig referenceAMet [M]11
73498671247 rs1478598585 N.D. synonymousAArg [R]12
contig referenceCArg [R]12
73498675251 rs755340655 0.000 missenseAGln [Q]23
missenseCPro [P]23
missenseTLeu [L]23
contig referenceGArg [R]23
73498676252 rs1310599711 N.D. synonymousAArg [R]33
contig referenceGArg [R]33
73498677253 rs1168018167 N.D. frame shiftCAGGArg [R]16
contig reference-Ala [A]16
73498678254 rs868180059 N.D.byCluster missenseALys [K]24
missenseTIle [I]24
contig referenceCThr [T]24
73498679255 rs1217790409 N.D. synonymousGThr [T]34
synonymousTThr [T]34
contig referenceAThr [T]34
73498681257 rs1277498805 N.D. missenseAAsp [D]25
contig referenceGGly [G]25
73498682258 rs1312352705 N.D. synonymousTGly [G]35
contig referenceCGly [G]35
73498685261 rs765666541 0.000 synonymousGAla [A]36
contig referenceAAla [A]36
73498687263 rs1235897517 N.D. missenseGArg [R]27
missenseTLeu [L]27
contig referenceCPro [P]27
73498690266 rs752955577 0.000 missenseTVal [V]28
contig referenceCAla [A]28
73498691267 rs1179234593 N.D. synonymousCAla [A]38
contig referenceTAla [A]38
73498692268 rs866966564 N.D.byCluster missenseALys [K]19
contig referenceCGln [Q]19
73498694270 rs916583663 N.D. missenseCHis [H]39
contig referenceGGln [Q]39
73498696272 rs758924385 0.000byFreq missenseAAsp [D]210
missenseTVal [V]210
contig referenceCAla [A]210
73498699275 rs1476937438 N.D. missenseCAla [A]211
contig referenceAAsp [D]211
73498700276 rs375502008 0.001byClusterbyFreqWith1000GenomeData0.0018 missenseGGlu [E]311
contig referenceCAsp [D]311
73498701277 rs1424744274 N.D. missenseCPro [P]112
contig referenceTSer [S]112
73498704280 rs1415192584 N.D. missenseTTrp [W]113
contig referenceCArg [R]113
73498705281 rs746927933 N.D.byCluster missenseCPro [P]213
contig referenceGArg [R]213
73498709285 rs1398260763 N.D. synonymousAGly [G]314
synonymousCGly [G]314
contig referenceGGly [G]314
73498714290 rs955444008 N.D. missenseAAsp [D]216
contig referenceGGly [G]216
73498716292 rs370228487 0.000byCluster nonsenseT117
missenseGGly [G]117
contig referenceCArg [R]117
73498727303 rs1332661908 N.D. synonymousTGly [G]320
contig referenceCGly [G]320
73498728304 rs1414613781 N.D. missenseTCys [C]121
contig referenceGGly [G]121
73498729305 rs1337997401 N.D. missenseAAsp [D]221
contig referenceGGly [G]221
73498730306 rs1434776911 N.D. synonymousAGly [G]321
contig referenceCGly [G]321
73498731307 rs1274561202 N.D. missenseCArg [R]122
contig referenceTCys [C]122
73498732308 rs906717629 N.D. missenseATyr [Y]222
contig referenceGCys [C]222
73498734310 rs757317946 0.000 missenseAThr [T]123
missenseTSer [S]123
contig referenceCPro [P]123
73498738314 rs746130133 0.001byFreq missenseAGlu [E]224
contig referenceGGly [G]224
73498740316 rs1398411592 N.D. missenseTCys [C]125
contig referenceGGly [G]125
73498741317 rs1036457953 N.D. missenseTVal [V]225
contig referenceGGly [G]225
73498743319 rs1386843777 N.D. missenseCGln [Q]126
contig referenceGGlu [E]126
73498752328 rs1219994349 N.D. synonymousTLeu [L]129
contig referenceCLeu [L]129
73498761337 rs1309824236 N.D. missenseTSer [S]132
contig referenceCPro [P]132
73498762338 rs1255738287 N.D. missenseTLeu [L]232
contig referenceCPro [P]232
73498765341 rs1316799707 N.D. missenseTLeu [L]233
contig referenceCPro [P]233
73498766342 rs1198681314 N.D. synonymousGPro [P]333
contig referenceAPro [P]333
73498767343 rs911238120 N.D. missenseTSer [S]134
contig referenceCPro [P]134
73498768344 rs1449744185 N.D. missenseTLeu [L]234
contig referenceCPro [P]234
73498771347 rs1197916306 N.D. missenseTLeu [L]235
contig referenceGArg [R]235
73498772348 rs1227809364 N.D. synonymousGArg [R]335
contig referenceCArg [R]335
73498773349 rs1247140236 N.D. frame shift-Ala [A]136
contig referenceGGly [G]136
73498774350 rs896915700 N.D. missenseAAsp [D]236
contig referenceGGly [G]236
73498780356 rs1478880983 N.D. missenseTIle [I]238
contig referenceCThr [T]238
73498782358 rs1201910459 N.D. nonsenseT139
contig referenceCArg [R]139
73498786362 rs1421701678 N.D. missenseAGlu [E]240
contig referenceGGly [G]240
73498787363 rs1465185202 N.D. synonymousGGly [G]340
contig referenceAGly [G]340
73498788364 rs1141021 N.D. missenseGGlu [E]141
contig referenceCGln [Q]141
73498791367 rs769856280 0.001byFreq missenseCGln [Q]142
contig referenceGGlu [E]142
73499136378 rs758761066 0.000 missenseTIle [I]345
contig referenceGMet [M]345
73499146388 rs1392031938 N.D. missenseGVal [V]149
contig referenceAIle [I]149
73499154396 rs764646227 0.000 missenseGLys [K]351
contig referenceCAsn [N]351
73499157399 rs752042689 0.000 missenseCHis [H]352
contig referenceGGln [Q]352
73499160402 rs1296676221 N.D. synonymousGGlu [E]353
contig referenceAGlu [E]353
73499166408 rs1478096824 N.D. synonymousTLeu [L]355
contig referenceCLeu [L]355
73499167409 rs949816934 N.D. missenseAThr [T]156
contig referenceGAla [A]156
73499168410 rs1252585619 N.D. missenseTVal [V]256
contig referenceCAla [A]256
73499170412 rs757719063 0.000 missenseGGlu [E]157
contig referenceALys [K]157
73499175417 rs1192416297 N.D. synonymousCLeu [L]358
contig referenceGLeu [L]358
73499178420 rs56029107 0.025byClusterbyFreqWith1000GenomeData0.0046 synonymousAGln [Q]359
contig referenceGGln [Q]359
73499179421 rs1482433932 N.D. missenseTSer [S]160
contig referenceGAla [A]160
73499180422 rs750408507 0.000byCluster missenseAGlu [E]260
missenseGGly [G]260
contig referenceCAla [A]260
73499188430 rs1338243858 N.D. missenseTCys [C]163
contig referenceCArg [R]163
73499194436 rs926939545 N.D. missenseASer [S]165
contig referenceGGly [G]165
73499202444 rs756363331 0.000 synonymousGLys [K]367
contig referenceALys [K]367
73502490447 rs1398157635 N.D. synonymousTGly [G]368
contig referenceAGly [G]368
73502498455 rs766853542 0.000 missenseAHis [H]271
contig referenceGArg [R]271
73502500457 rs1192476330 N.D. nonsenseT172
contig referenceAArg [R]172
73502503460 rs1419684465 N.D. -175
73502509466 rs1332017959 N.D. missenseGGlu [E]175
contig referenceALys [K]175
73502510467 rs1379009626 N.D. missenseTMet [M]275
contig referenceALys [K]275
73502511468 rs776856231 0.000 synonymousALys [K]375
contig referenceGLys [K]375
73502512469 rs1162650979 N.D. missenseAMet [M]176
contig referenceGVal [V]176
73502520477 rs759685327 0.000byFreq synonymousCHis [H]378
contig referenceTHis [H]378
73502524481 rs765616938 0.005byFreq missenseCPro [P]180
missenseGAla [A]180
contig referenceAThr [T]180
73502526483 rs769043350 0.000byClusterbyFreq synonymousCThr [T]380
contig referenceAThr [T]380
73502529486 rs1424714855 N.D. synonymousTAla [A]381
contig referenceCAla [A]381
73502532489 rs1358382206 N.D. synonymousGThr [T]382
contig referenceAThr [T]382
73502534491 rs982914280 N.D. missenseTVal [V]283
contig referenceCAla [A]283
73502536493 rs11556916 N.D. missenseTTyr [Y]184
contig referenceGAsp [D]184
73502543500 rs146671283 0.000byCluster missenseGArg [R]286
contig referenceALys [K]286
73502552509 rs767250561 0.000 missenseGArg [R]289
contig referenceAGln [Q]289
73502562519 rs1236701690 N.D. missenseCPhe [F]392
contig referenceALeu [L]392
73502565522 rs1362796574 N.D. synonymousALys [K]393
contig referenceGLys [K]393
73502566523 rs1216363290 N.D. missenseGGlu [E]194
contig referenceALys [K]194
73502571528 rs11556919 N.D. synonymousGLeu [L]395
contig referenceALeu [L]395
73502574531 rs140216272 0.003byClusterbyFreqWith1000GenomeData0.0002 synonymousTGly [G]396
contig referenceGGly [G]396
73502575532 rs377307371 0.000byClusterbyFreq YesmissenseAIle [I]197
missenseTLeu [L]197
contig referenceGVal [V]197
73502580537 rs1247181013 N.D. synonymousTAsn [N]398
contig referenceCAsn [N]398
73502582539 rs376732614 0.000byCluster YesmissenseGSer [S]299
contig referenceAAsn [N]299
73502583540 rs754461959 0.000 synonymousCAsn [N]399
contig referenceTAsn [N]399
73502588545 rs1215511257 N.D. missenseGCys [C]2101
contig referenceCSer [S]2101
73502589546 rs778574926 0.000 synonymousCSer [S]3101
contig referenceTSer [S]3101
73502594551 rs1486582188 N.D. missenseGSer [S]2103
contig referenceTIle [I]2103
73502920563 rs754868948 0.000 missenseGSer [S]2107
contig referenceAAsn [N]2107
73502922565 rs996682498 N.D. missenseGVal [V]1108
contig referenceAMet [M]1108
73502931574 rs778415639 0.000 missenseGAsp [D]1111
contig referenceAAsn [N]1111
73502933576 rs1456824896 N.D. synonymousTAsn [N]3111
contig referenceCAsn [N]3111
73502934577 rs1280571469 N.D. missenseGGlu [E]1112
contig referenceCGln [Q]1112
73502936579 rs752195686 0.000 synonymousGGln [Q]3112
contig referenceAGln [Q]3112
73502937580 rs1050429962 N.D. missenseAArg [R]1113
contig referenceGGly [G]1113
73502939582 rs1217165399 N.D. synonymousTGly [G]3113
contig referenceAGly [G]3113
73502940583 rs757993865 0.000byFreq missenseGAla [A]1114
missenseTSer [S]1114
contig referenceAThr [T]1114
73502942585 rs1323661472 N.D. synonymousGThr [T]3114
contig referenceAThr [T]3114
73502944587 rs747392162 0.000byFreq missenseCAla [A]2115
missenseGGly [G]2115
contig referenceTVal [V]2115
73502946589 rs1256094316 N.D. missenseGVal [V]1116
contig referenceAIle [I]1116
73502948591 rs1277778132 N.D. synonymousTIle [I]3116
contig referenceCIle [I]3116
73502951594 rs151143923 0.001byClusterbyFreqWith1000GenomeData0.0006 YessynonymousTHis [H]3117
contig referenceCHis [H]3117
73502954597 rs111757484 0.500byCluster YessynonymousCPhe [F]3118
contig referenceTPhe [F]3118
73502962605 rs878981435 N.D. missenseTLeu [L]2121
contig referenceCPro [P]2121
73502965608 rs966602011 N.D. missenseGArg [R]2122
contig referenceALys [K]2122
73502970613 rs1182433703 N.D. nonsenseT1124
contig referenceCGln [Q]1124
73502979622 rs1367160041 N.D. missenseGVal [V]1127
contig referenceCLeu [L]1127
73502985628 rs1234453441 N.D. missenseAThr [T]1129
contig referenceGAla [A]1129
73502986629 rs1161723411 N.D. missenseTVal [V]2129
contig referenceCAla [A]2129
73502987630 rs137911027 0.002byClusterbyFreqWith1000GenomeData0.0012 YessynonymousAAla [A]3129
contig referenceGAla [A]3129
73502993636 rs951669972 N.D. synonymousGThr [T]3131
contig referenceTThr [T]3131
73502997640 rs746411488 0.000 missenseCPro [P]1133
contig referenceAThr [T]1133
73503002645 rs770379410 0.000 synonymousCIle [I]3134
contig referenceTIle [I]3134
73503008651 rs201362870 0.000byClusterbyFreq YessynonymousAGly [G]3136
contig referenceCGly [G]3136
73503014657 rs1398748047 N.D. synonymousCAla [A]3138
contig referenceTAla [A]3138
73503018661 rs41271745 N.D. YesmissenseGAla [A]1140
contig referenceAThr [T]1140
73503019662 rs1409951460 N.D. missenseTIle [I]2140
contig referenceCThr [T]2140
73503020663 rs14010 0.283byClusterbyFreqbySubmitterwith2hitWith1000GenomeData0.3784 YessynonymousGThr [T]3140
contig referenceAThr [T]3140
73503032675 rs768814807 0.000 synonymousGThr [T]3144
contig referenceAThr [T]3144
73503036679 rs1422354682 N.D. missenseGVal [V]1146
contig referenceAMet [M]1146
73503040683 rs1190998330 N.D. frame shift-Val [V]2148
contig reference(22bp)Pro [P]2148
73503044687 rs1481232215 N.D. synonymousTPro [P]3148
contig referenceCPro [P]3148
73503048691 rs143150590 0.000byCluster YesmissenseGVal [V]1150
contig referenceAIle [I]1150
73503049692 rs201235182 0.000byClusterWith1000GenomeData0.0002 YesmissenseCThr [T]2150
contig referenceTIle [I]2150
73503061704 rs1282265190 N.D. missenseCPro [P]2154
contig referenceTLeu [L]2154
73503067710 rs372460087 0.000byClusterbyFreq YesmissenseTVal [V]2156
contig referenceCAla [A]2156
73503068711 rs72768738 N.D.byClusterWith1000GenomeData YessynonymousAAla [A]3156
synonymousTAla [A]3156
contig referenceGAla [A]3156
73503073716 rs1207304383 N.D. missenseAAsn [N]2158
contig referenceGSer [S]2158
73503074717 rs1318635089 N.D. missenseAArg [R]3158
contig referenceTSer [S]3158
73503077720 rs760502541 0.000 synonymousCLeu [L]3159
contig referenceGLeu [L]3159
73503081724 rs766190108 0.000 missenseGGly [G]1161
contig referenceASer [S]1161
73503090733 rs1196362570 N.D. synonymousCArg [R]1164
contig referenceAArg [R]1164
73503092735 rs1328054410 N.D. synonymousGArg [R]3164
contig referenceAArg [R]3164
73503093736 rs1257534656 N.D. synonymousTLeu [L]1165
contig referenceCLeu [L]1165
73503098741 rs753579016 0.000byFreq synonymousTAla [A]3166
contig referenceCAla [A]3166
73503099742 rs186931485 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseALys [K]1167
contig referenceGGlu [E]1167
73503107750 rs1220497399 N.D. synonymousALeu [L]3169
contig referenceGLeu [L]3169
73503110753 rs550156544 0.000byFreqWith1000GenomeData0.0002 synonymousGPro [P]3170
contig referenceCPro [P]3170
73503116759 rs758587066 0.000byFreq frame shiftTCLeu [L]3174
contig reference-Val [V]3174
73504349763 rs772223535 0.000 missenseAMet [M]1174
contig referenceGVal [V]1174
73504350764 rs2703643 N.D. missenseGGly [G]2174
contig referenceTVal [V]2174
73504353767 rs1311504384 N.D. missenseTVal [V]2175
contig referenceAAsp [D]2175
73504361775 rs12332640 N.D. missenseAThr [T]1178
contig referenceGAla [A]1178
73504363777 rs200903571 0.000byClusterbyFreq synonymousGAla [A]3178
contig referenceAAla [A]3178
73504364778 rs759324851 0.000byFreq missenseTSer [S]1179
contig referenceCPro [P]1179
73504367781 rs773022738 N.D. missenseTPhe [F]1180
contig referenceCLeu [L]1180
73504371785 rs1163491446 N.D. missenseGGly [G]2181
contig referenceCAla [A]2181
73504373787 rs765146287 0.000 missenseTSer [S]1182
contig referenceAThr [T]1182
73504376790 rs1300448238 N.D. missenseAArg [R]1183
contig referenceGGly [G]1183
73504377791 rs1426913618 N.D. missenseCAla [A]2183
contig referenceGGly [G]2183
73504381795 rs756028701 0.000byFreq GATAsp [D]3188
73504382796 rs748057618 0.000byClusterbyFreq -1188
73504384798 rs760319904 0.000byFreq missenseGGlu [E]3185
contig referenceTAsp [D]3185
73504386800 rs991534070 N.D. missenseGGly [G]2186
contig referenceAAsp [D]2186
73504387801 rs1383736852 N.D. missenseAGlu [E]3186
contig referenceTAsp [D]3186
73504396810 rs762412758 0.000 synonymousGGlu [E]3189
contig referenceAGlu [E]3189
73504401815 rs1369153040 N.D. missenseTLeu [L]2191
contig referenceCPro [P]2191
73504403817 rs763692757 0.000 missenseAAsn [N]1192
contig referenceGAsp [D]1192
73505196822 rs377277739 0.000byClusterbyFreq synonymousGLeu [L]3193
contig referenceTLeu [L]3193
73505201827 rs1176430427 N.D. missenseGGly [G]2195
contig referenceAGlu [E]2195
73505202828 rs559350283 0.000With1000GenomeData0.0002 synonymousAGlu [E]3195
contig referenceGGlu [E]3195
73505204830 rs1464051814 N.D. missenseGSer [S]2196
contig referenceAAsn [N]2196
73505208834 rs369855040 0.000byCluster synonymousCPhe [F]3197
contig referenceTPhe [F]3197
73505226852 rs34963032 0.027 missenseGLys [K]3203
contig referenceTAsn [N]3203
73505229855 rs961437822 N.D. synonymousAGlu [E]3204
contig referenceGGlu [E]3204
73505234860 rs1310848022 N.D. missenseGSer [S]2206
contig referenceAAsn [N]2206
735054401066 rs1349289582 N.D. -
735055071133 rs1418839605 N.D. -