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SNP linked to Gene (geneID:9341) 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
XM_017002841.1plus strandXP_016858330.1forwardNT_032977.10GRCh38.p7<- currently shown
NM_004781.3plus strandNP_004772.1forwardNT_032977.10GRCh38.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_032977.10XM_017002841.1XP_016858330.1forwardplus strand125, 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
777135284 rs770671231 0.001byFreq -
777136395 rs1301790371 N.D. -
7771385117 rs746963670 0.000byFreq missenseCThr [T]21
contig referenceTMet [M]21
7773442118 rs1328681733 N.D. missenseTIle [I]31
contig referenceGMet [M]31
7773443119 rs1353128178 N.D. missenseCPro [P]12
contig referenceTSer [S]12
7773446122 rs757330685 0.000 missenseGAla [A]13
contig referenceAThr [T]13
7773447123 rs781121112 0.000 missenseTIle [I]23
contig referenceCThr [T]23
7773448124 rs745721225 0.000byFreq synonymousGThr [T]33
synonymousTThr [T]33
contig referenceAThr [T]33
7773451127 rs774590605 0.000byFreq synonymousCGly [G]34
contig referenceTGly [G]34
7773454130 rs748338371 0.000 synonymousGPro [P]35
contig referenceAPro [P]35
7773455131 rs1360555527 N.D. missenseGAla [A]16
contig referenceAThr [T]16
7773457133 rs1336933153 N.D. synonymousGThr [T]36
contig referenceTThr [T]36
7773459135 rs1228820769 N.D. missenseTVal [V]27
contig referenceCAla [A]27
7773464140 rs772136702 0.000 missenseCPro [P]19
contig referenceAThr [T]19
7773466142 rs773286763 0.000 synonymousGThr [T]39
contig referenceTThr [T]39
7773469145 rs1206300975 N.D. synonymousTGly [G]310
contig referenceCGly [G]310
7773470146 rs540062245 0.000With1000GenomeData0.0002 missenseGGly [G]111
contig referenceASer [S]111
7773473149 rs1325562541 N.D. missenseTTyr [Y]112
contig referenceAAsn [N]112
7773476152 rs549256170 N.D.byCluster nonsenseT113
contig referenceCArg [R]113
7773480156 rs766930306 0.000 missenseALys [K]214
contig referenceGArg [R]214
7773481157 rs1258999217 N.D. synonymousGArg [R]314
contig referenceAArg [R]314
7773485161 rs1257497562 N.D. missenseALys [K]116
contig referenceCGln [Q]116
7773492168 rs1436293055 N.D. missenseTIle [I]218
contig referenceCThr [T]218
7773493169 rs558063108 0.000With1000GenomeData0.0002 synonymousGThr [T]318
contig referenceAThr [T]318
7773498174 rs759987707 0.000 missenseGSer [S]220
contig referenceAAsn [N]220
7773502178 rs765553952 0.000 synonymousGGln [Q]321
contig referenceAGln [Q]321
7773503179 rs1412029152 N.D. missenseAIle [I]122
missenseCLeu [L]122
contig referenceGVal [V]122
7773504180 rs1171531783 N.D. missenseCAla [A]222
contig referenceTVal [V]222
7773506182 rs752334689 0.000byClusterbyFreq missenseAAsn [N]123
contig referenceGAsp [D]123
7777162190 rs114491660 0.000byClusterWith1000GenomeData0.0002 YessynonymousTVal [V]325
contig referenceGVal [V]325
7777162190 rs775094523 0.000 frame shift-Trp [W]326
contig referenceGVal [V]326
7777165193 rs190930592 0.001byClusterbyFreqWith1000GenomeData0.0002 YessynonymousAVal [V]326
contig referenceGVal [V]326
7777170198 rs1305220215 N.D. missenseCThr [T]228
contig referenceTIle [I]228
7777173201 rs1384419744 N.D. missenseCThr [T]229
contig referenceTMet [M]229
7777175203 rs1345246702 N.D. nonsenseT130
contig referenceCArg [R]130
7777176204 rs1204092613 N.D. missenseAGln [Q]230
contig referenceGArg [R]230
7777183211 rs762652944 0.000byFreq synonymousTAsn [N]332
contig referenceCAsn [N]332
7777184212 rs763888128 0.000 missenseAMet [M]133
contig referenceGVal [V]133
7777185213 rs138476443 0.000byCluster YesmissenseCAla [A]233
contig referenceTVal [V]233
7777189217 rs1252862118 N.D. synonymousTAsp [D]334
contig referenceCAsp [D]334
7777191219 rs761362677 0.000 missenseGArg [R]235
contig referenceALys [K]235
7777193221 rs767155660 0.000 missenseCLeu [L]136
missenseTPhe [F]136
contig referenceGVal [V]136
7777199227 rs750314246 0.000 missenseALys [K]138
missenseCGln [Q]138
contig referenceGGlu [E]138
7777214242 rs762427378 0.000 frame shift-145
contig referenceCTCTGlu [E]145
7777215243 rs1469805588 N.D. missenseGArg [R]243
contig referenceTLeu [L]243
7777218246 rs1376592951 N.D. missenseGCys [C]244
contig referenceCSer [S]244
7777223251 rs1053091644 N.D. missenseGVal [V]146
contig referenceTLeu [L]146
7777226254 rs756011875 0.000byFreq missenseAAsn [N]147
missenseCHis [H]147
contig referenceGAsp [D]147
7777228256 rs199685566 0.000byCluster YessynonymousTAsp [D]347
contig referenceCAsp [D]347
7777229257 rs1461602779 N.D. frame shift(7bp)Pro [P]151
contig reference-Asp [D]151
7777230258 rs758601418 0.000 missenseGGly [G]248
contig referenceAAsp [D]248
7777232260 rs778011351 0.000 missenseTCys [C]149
contig referenceCArg [R]149
7777232260 rs1457783013 N.D. frame shift-Thr [T]150
contig reference(8bp)Ala [A]150
7777233261 rs1393590862 N.D. missenseAHis [H]249
missenseTLeu [L]249
contig referenceGArg [R]249
7777235263 rs1438491877 N.D. missenseAThr [T]150
contig referenceGAla [A]150
7777236264 rs747264524 0.000byFreq missenseTVal [V]250
contig referenceCAla [A]250
7777240268 rs770952194 0.000 synonymousTAsp [D]351
contig referenceCAsp [D]351
7777241269 rs1237876454 N.D. missenseAThr [T]152
contig referenceGAla [A]152
7777243271 rs1277343958 N.D. synonymousCAla [A]352
contig referenceAAla [A]352
7777244272 rs1352239308 N.D. synonymousTLeu [L]153
contig referenceCLeu [L]153
7777246274 rs1228427332 N.D. synonymousALeu [L]353
contig referenceGLeu [L]353
7777249277 rs1273148898 N.D. synonymousAGln [Q]354
contig referenceGGln [Q]354
7777250278 rs781134285 0.000 missenseTSer [S]155
contig referenceGAla [A]155
7777255283 rs746381296 0.000byFreq synonymousAGly [G]356
synonymousTGly [G]356
contig referenceCGly [G]356
7777256284 rs770261916 0.000byFreq missenseAThr [T]157
contig referenceGAla [A]157
7777257285 rs541622542 0.000byFreqWith1000GenomeData0.0002 missenseTVal [V]257
contig referenceCAla [A]257
7777258286 rs560129906 0.000byFreqWith1000GenomeData0.0004 synonymousGAla [A]357
contig referenceTAla [A]357
7777260288 rs1204553928 N.D. missenseGCys [C]258
contig referenceCSer [S]258
7777271299 rs1365707397 N.D. missenseGAla [A]162
contig referenceAThr [T]162
7777272300 rs145085517 0.000byClusterbyFreq YesmissenseTMet [M]262
contig referenceCThr [T]262
7777273301 rs114336504 0.000byClusterbyFreqWith1000GenomeData0.0004 YessynonymousAThr [T]362
synonymousCThr [T]362
contig referenceGThr [T]362
7777276304 rs141188464 0.000byCluster YessynonymousTSer [S]363
contig referenceCSer [S]363
7777277305 rs749971635 0.000byFreq missenseAThr [T]164
contig referenceGAla [A]164
7777280308 rs1164854087 N.D. missenseCPro [P]165
contig referenceGAla [A]165
7777282310 rs889327746 N.D. synonymousAAla [A]365
contig referenceCAla [A]365
7777283311 rs1477284497 N.D. missenseCGln [Q]166
contig referenceALys [K]166
7777284312 rs1175850978 N.D. missenseCThr [T]266
contig referenceALys [K]266
7777286314 rs760652046 0.000 missenseAMet [M]167
contig referenceTLeu [L]167
7777289317 rs1390550698 N.D. missenseGGlu [E]168
contig referenceALys [K]168
7777293321 rs1429614729 N.D. missenseALys [K]269
contig referenceGArg [R]269
7777300328 rs1326476935 N.D. synonymousCTyr [Y]371
contig referenceTTyr [Y]371
7777310338 rs1351913627 N.D. missenseGAsp [D]175
contig referenceAAsn [N]175
7777311339 rs766280350 0.000 missenseTIle [I]275
contig referenceAAsn [N]275
7777311339 rs768074089 0.000 frame shiftTLeu [L]276
contig reference-Cys [C]276
7777314342 rs1409951095 N.D. missenseCSer [S]276
contig referenceGCys [C]276
7777318346 rs753637786 0.000 synonymousALys [K]377
contig referenceGLys [K]377
7778118347 rs1210447108 N.D. missenseCLeu [L]178
contig referenceAMet [M]178
7778119348 rs553625650 0.000With1000GenomeData0.0002 missenseCThr [T]278
contig referenceTMet [M]278
7778121350 rs765945268 0.000 missenseCArg [R]179
missenseGGly [G]179
contig referenceTTrp [W]179
7778124353 rs374984144 0.000byCluster missenseAThr [T]180
contig referenceGAla [A]180
7778127356 rs747982809 0.000byCluster missenseCLeu [L]181
missenseGVal [V]181
contig referenceAIle [I]181
7778129358 rs149457052 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTIle [I]381
contig referenceCIle [I]381
7778130359 rs1190839745 N.D. missenseAArg [R]182
contig referenceGGly [G]182
7778132361 rs752545513 0.000 synonymousTGly [G]382
contig referenceGGly [G]382
7778136365 rs116416205 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGAla [A]184
contig referenceAThr [T]184
7778138367 rs57351330 0.000byClusterWith1000GenomeData0.0002 synonymousAThr [T]384
contig referenceTThr [T]384
7778139368 rs767672011 0.000 missenseAIle [I]185
contig referenceGVal [V]185
7778141370 rs750684812 0.000 synonymousCVal [V]385
synonymousGVal [V]385
contig referenceTVal [V]385
7778143372 rs756094232 0.000byFreq missenseCPro [P]286
contig referenceTLeu [L]286
7778144373 rs780192464 0.000 synonymousALeu [L]386
contig referenceGLeu [L]386
7778147376 rs1384949370 N.D. synonymousCVal [V]387
contig referenceTVal [V]387
7778148377 rs1381020783 N.D. missenseTPhe [F]188
contig referenceAIle [I]188
7778151380 rs755176457 0.000byFreq TCAIle [I]194
TCATCA [II]194
7778152381 rs752706951 0.278 -294
7778152381 rs758396306 0.000 -293
7778154383 rs950046548 N.D. missenseTPhe [F]190
contig referenceAIle [I]190
7778157386 rs1366397887 N.D. missenseGVal [V]191
contig referenceAIle [I]191
7778158387 rs749743327 0.000 missenseCThr [T]291
contig referenceTIle [I]291
7778161390 rs1301569124 N.D. missenseGSer [S]292
contig referenceTIle [I]292
7778166395 rs1314138321 N.D. missenseGVal [V]194
contig referenceAIle [I]194
7778168397 rs140568149 0.002byClusterbyFreqWith1000GenomeData0.0016 synonymousTIle [I]394
contig referenceCIle [I]394
7778169398 rs369968090 0.000byClusterbyFreq missenseAMet [M]195
missenseCLeu [L]195
contig referenceGVal [V]195
7779633406 rs1183202823 N.D. synonymousCVal [V]397
contig referenceTVal [V]397
7779634407 rs770673246 0.000 missenseAIle [I]198
contig referenceGVal [V]198
7779638411 rs144427684 0.000byCluster missenseATyr [Y]299
contig referenceCSer [S]299
7779641414 rs374611913 0.000byCluster nonsenseA2100
contig referenceCSer [S]2100
7779817590 rs760544505 N.D.byCluster -
7780071844 rs1359413235 N.D. -
7780215988 rs767558108 N.D.byCluster -
7780218991 rs890016569 N.D. -
7780221994 rs796206272 N.D. -
77807051478 rs1370677484 N.D. -
77807991572 rs1374881421 N.D. -
77809111684 rs903685287 N.D. -
77812091982 rs1259312829 N.D. -