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SNP linked to Gene (geneID:2671) 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): 1
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_005262.2plus strandNP_005253.3forwardNT_010393.17GRCh38.p7<- currently shown

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p7NT_010393.17NM_005262.2NP_005253.3forwardplus strand269, 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
198422072 rs1345612363 N.D. missenseCThr [T]21
contig referenceTMet [M]21
198422375 rs1288959387 N.D. missenseTVal [V]22
contig referenceCAla [A]22
198422476 rs891725532 N.D. synonymousAAla [A]32
synonymousCAla [A]32
contig referenceGAla [A]32
198422779 rs1489180578 N.D. synonymousAAla [A]33
contig referenceGAla [A]33
198422880 rs774614929 0.000 missenseTSer [S]14
contig referenceCPro [P]14
198423082 rs1249413066 N.D. synonymousTPro [P]34
contig referenceCPro [P]34
198423385 rs1418820703 N.D. synonymousTGly [G]35
contig referenceCGly [G]35
198423688 rs1010125617 N.D. missenseCAsp [D]36
contig referenceGGlu [E]36
198423789 rs1192206034 N.D. missenseTTrp [W]17
contig referenceCArg [R]17
198423991 rs1019034410 N.D. synonymousCArg [R]37
contig referenceGArg [R]37
198424395 rs965662755 N.D. missenseGGly [G]19
missenseTCys [C]19
contig referenceCArg [R]19
1984249101 rs1382599825 N.D. missenseTTyr [Y]111
contig referenceCHis [H]111
1984252104 rs1440828796 N.D. missenseASer [S]112
missenseCArg [R]112
contig referenceGGly [G]112
1984253105 rs1163584841 N.D. missenseCAla [A]212
contig referenceGGly [G]212
1984254106 rs762037327 0.001byFreq synonymousTGly [G]312
contig referenceCGly [G]312
1984255107 rs1204786235 N.D. frame shift-Thr [T]114
contig referenceGAsn [N]114
1984259111 rs1256055497 N.D. missenseCThr [T]214
missenseGSer [S]214
contig referenceAAsn [N]214
1984260112 rs1054493594 N.D. missenseGLys [K]314
contig referenceCAsn [N]314
1984262114 rs780491791 0.000 -217
1984263115 rs951760978 N.D. synonymousTLeu [L]315
contig referenceCLeu [L]315
1984266118 rs1224192244 N.D. synonymousTPhe [F]316
contig referenceCPhe [F]316
1984271123 rs1396004776 N.D. missenseGArg [R]218
contig referenceTLeu [L]218
1984273125 rs893122483 N.D. missenseTSer [S]119
contig referenceCPro [P]119
1984273125 rs1389941308 N.D. frame shift-Arg [R]119
contig referenceCPro [P]119
1984274126 rs1276194720 N.D. missenseTLeu [L]219
contig referenceCPro [P]219
1984275127 rs535377905 0.000byClusterbyFreqWith1000GenomeData0.0082 synonymousCPro [P]319
contig referenceGPro [P]319
1984276128 rs1042664976 N.D. missenseAArg [R]120
contig referenceGGly [G]120
1984277129 rs1472331160 N.D. missenseAGlu [E]220
contig referenceGGly [G]220
1984278130 rs1157172875 N.D. synonymousAGly [G]320
contig referenceGGly [G]320
1984280132 rs773199934 0.001byFreq missenseAAsp [D]221
missenseTVal [V]221
contig referenceGGly [G]221
1984281133 rs760615529 0.001byFreq synonymousTGly [G]321
contig referenceCGly [G]321
1984283135 rs1322950310 N.D. missenseTVal [V]222
contig referenceCAla [A]222
1984284136 rs1358231659 N.D. synonymousAAla [A]322
contig referenceGAla [A]322
1984285137 rs1408657594 N.D. missenseTCys [C]123
contig referenceCArg [R]123
1984287139 rs1221705312 N.D. synonymousTArg [R]323
contig referenceCArg [R]323
1984288140 rs1470666851 N.D. missenseCPro [P]124
contig referenceTSer [S]124
1984290142 rs1420889047 N.D. synonymousTSer [S]324
contig referenceCSer [S]324
1984293145 rs902431596 N.D. missenseTAsp [D]325
contig referenceGGlu [E]325
1984294146 rs1169105325 N.D. missenseGVal [V]126
contig referenceAMet [M]126
1984298150 rs1003355020 N.D. missenseCThr [T]227
contig referenceTMet [M]227
1984305157 rs910026091 N.D. synonymousTAsp [D]329
contig referenceCAsp [D]329
1984308160 rs1034865237 N.D. synonymousALeu [L]330
contig referenceGLeu [L]330
1984309161 rs1200200618 N.D. missenseAThr [T]131
contig referenceGAla [A]131
1984315167 rs1240408467 N.D. missenseAAsn [N]133
contig referenceGAsp [D]133
1984316168 rs972973281 N.D. missenseGGly [G]233
contig referenceAAsp [D]233
1984317169 rs1440703943 N.D. synonymousTAsp [D]333
contig referenceCAsp [D]333
1984318170 rs1303153103 N.D. frame shift-Gly [G]137
contig reference(13bp)Arg [R]137
1984319171 rs1183454721 N.D. missenseGGly [G]234
missenseTVal [V]234
contig referenceCAla [A]234
1984320172 rs766280079 0.000 synonymousTAla [A]334
contig referenceGAla [A]334
1984321173 rs1426118626 N.D. missenseTTrp [W]135
contig referenceCArg [R]135
1984322174 rs1401238152 N.D. missenseAGln [Q]235
contig referenceGArg [R]235
1984324176 rs1204596051 N.D. missenseASer [S]136
contig referenceGGly [G]136
1984330182 rs1165547554 N.D. missenseASer [S]138
contig referenceGGly [G]138
1984332184 rs1372636034 N.D. synonymousAGly [G]338
synonymousTGly [G]338
contig referenceCGly [G]338
1984334186 rs753639816 0.000 missenseTVal [V]239
contig referenceCAla [A]239
1984340192 rs1333625525 N.D. missenseAGln [Q]241
missenseTLeu [L]241
contig referenceGArg [R]241
1984341193 rs1011987202 N.D. synonymousTArg [R]341
contig referenceGArg [R]341
1984342194 rs1308006803 N.D. missenseGGly [G]142
contig referenceAArg [R]142
1984345197 rs950089553 N.D. missenseTTyr [Y]143
contig referenceGAsp [D]143
1984347199 rs1016725284 N.D. missenseAGlu [E]343
missenseGGlu [E]343
synonymousTAsp [D]343
contig referenceCAsp [D]343
1984348200 rs1227290820 N.D. missenseAThr [T]144
missenseTSer [S]144
contig referenceGAla [A]144
1984349201 rs1334563929 N.D. missenseTVal [V]244
contig referenceCAla [A]244
1984350202 rs1397452380 N.D. synonymousAAla [A]344
contig referenceGAla [A]344
1984351203 rs962686909 N.D. missenseAThr [T]145
contig referenceGAla [A]145
1984352204 rs1461870557 N.D. missenseGGly [G]245
contig referenceCAla [A]245
1984354206 rs1355612442 N.D. missenseCPro [P]146
contig referenceGAla [A]146
1984355207 rs1173252857 N.D. missenseTVal [V]246
contig referenceCAla [A]246
1984356208 rs936063405 N.D. synonymousTAla [A]346
contig referenceCAla [A]346
1984360212 rs1228865801 N.D. missenseTSer [S]148
contig referenceGAla [A]148
1984361213 rs972426940 N.D. missenseTVal [V]248
contig referenceCAla [A]248
1984364216 rs891592950 N.D. missenseGTrp [W]249
contig referenceCSer [S]249
1984365217 rs1305322687 N.D. synonymousASer [S]349
contig referenceGSer [S]349
1984367219 rs1220019209 N.D. missenseALys [K]250
contig referenceCThr [T]250
1984371223 rs759460274 0.000 synonymousTPro [P]351
contig referenceAPro [P]351
1984372224 rs918808957 N.D. missenseCPro [P]152
contig referenceGAla [A]152
1984374226 rs1325319408 N.D. synonymousTAla [A]352
contig referenceCAla [A]352
1984375227 rs765134997 0.000 missenseGGlu [E]153
contig referenceCGln [Q]153
1984376228 rs1203465276 N.D. missenseGArg [R]253
contig referenceAGln [Q]253
1984377229 rs752327413 0.000 missenseTHis [H]353
synonymousAGln [Q]353
contig referenceGGln [Q]353
1984386238 rs758150888 0.000 synonymousGThr [T]356
synonymousTThr [T]356
contig referenceCThr [T]356
1984388240 rs1183022825 N.D. missenseGCys [C]257
contig referenceCSer [S]257
1984389241 rs1261049517 N.D. synonymousTSer [S]357
contig referenceCSer [S]357
1984390242 rs1476892322 N.D. missenseCHis [H]158
contig referenceGAsp [D]158
1984391243 rs1173038923 N.D. missenseGGly [G]258
contig referenceAAsp [D]258
1984394246 rs1010571528 N.D. missenseATyr [Y]259
contig referenceCSer [S]259
1984396248 rs1223766741 N.D. missenseTSer [S]160
contig referenceCPro [P]160
1984401253 rs955632773 N.D. synonymousTVal [V]361
contig referenceCVal [V]361
1984404256 rs763610770 0.000byFreq synonymousGAla [A]362
contig referenceCAla [A]362
1984407259 rs375792737 0.000byClusterbyFreqWith1000GenomeData0.0006 missenseCAsp [D]363
contig referenceGGlu [E]363
1984408260 rs1360738973 N.D. missenseAAsn [N]164
contig referenceGAsp [D]164
1984410262 rs112534956 N.D. missenseGGlu [E]364
contig referenceCAsp [D]364
1984411263 rs901752142 N.D. missenseAThr [T]165
contig referenceGAla [A]165
1984415267 rs1288218335 N.D. frame shift-Gly [G]267
contig referenceCArg [R]267
1984416268 rs1374216540 N.D. synonymousGSer [S]366
contig referenceCSer [S]366
1984417269 rs1359181279 N.D. missenseTTrp [W]167
contig referenceCArg [R]167
1984418270 rs1401328877 N.D. missenseAGln [Q]267
contig referenceGArg [R]267
1984421273 rs1028643548 N.D. missenseCThr [T]268
contig referenceGArg [R]268
1984423275 rs569037883 0.000With1000GenomeData0.0002 synonymousAArg [R]169
contig referenceCArg [R]169
1984424276 rs1456862514 N.D. missenseTLeu [L]269
contig referenceGArg [R]269
1984427279 rs780490309 0.000 missenseGArg [R]270
contig referenceCPro [P]270
1984432284 rs749652504 0.000 missenseGGly [G]172
contig referenceCArg [R]172
1984433285 rs1180176254 N.D. missenseAGln [Q]272
contig referenceGArg [R]272
1984434286 rs755279097 0.000 synonymousAArg [R]372
synonymousTArg [R]372
contig referenceGArg [R]372
1984435287 rs779254345 0.000byFreq missenseTSer [S]173
contig referenceGAla [A]173
1984438290 rs1419715542 N.D. missenseASer [S]174
contig referenceTCys [C]174
1984442294 rs748329975 0.000 missenseGGly [G]275
contig referenceTVal [V]275
1984443295 rs772307688 0.000 synonymousAVal [V]375
contig referenceCVal [V]375
1984444296 rs1175661875 N.D. missenseTTyr [Y]176
contig referenceGAsp [D]176
1984449301 rs866480610 N.D.byCluster missenseALeu [L]377
contig referenceCPhe [F]377
1984454306 rs773323504 0.000 missenseALys [K]279
contig referenceCThr [T]279
1984455307 rs1195899467 N.D. synonymousTThr [T]379
contig referenceGThr [T]379
1984461313 rs1376805565 N.D. missenseAIle [I]381
contig referenceGMet [M]381
1984462314 rs201675904 0.000byClusterbyFreq YesmissenseTTrp [W]182
synonymousAArg [R]182
contig referenceCArg [R]182
1984466318 rs1189758959 N.D. missenseGArg [R]283
missenseTMet [M]283
contig referenceCThr [T]283
1984471323 rs1426919551 N.D. nonsenseT185
missenseGGlu [E]185
contig referenceCGln [Q]185
1984748330 rs1409002625 N.D. missenseCPro [P]287
contig referenceGArg [R]287
1984749331 rs769900445 0.000 synonymousAArg [R]387
synonymousCArg [R]387
contig referenceGArg [R]387
1984754336 rs1398481343 N.D. missenseGSer [S]289
missenseTIle [I]289
contig referenceCThr [T]289
1984764346 rs1340360725 N.D. missenseCSer [S]392
contig referenceGArg [R]392
1984765347 rs762907502 0.000 missenseALys [K]193
missenseCGln [Q]193
contig referenceGGlu [E]193
1984767349 rs1286026673 N.D. synonymousAGlu [E]393
contig referenceGGlu [E]393
1984768350 rs1490540568 N.D. missenseAAsn [N]194
contig referenceGAsp [D]194
1984770352 rs763786791 0.000byFreq synonymousTAsp [D]394
contig referenceCAsp [D]394
1984771353 rs895073717 N.D. missenseCArg [R]195
contig referenceTCys [C]195
1984774356 rs1214146877 N.D. missenseTSer [S]196
contig referenceCPro [P]196
1984776358 rs758983119 0.000 synonymousAPro [P]396
contig referenceGPro [P]396
1984779361 rs1319693473 N.D. synonymousAPro [P]397
contig referenceGPro [P]397
1984780362 rs761533080 0.000 missenseCHis [H]198
contig referenceGAsp [D]198
1984784366 rs1242356007 N.D. missenseAHis [H]299
contig referenceGArg [R]299
1984786368 rs1006300352 N.D. missenseALys [K]1100
contig referenceGGlu [E]1100
1984788370 rs1440619333 N.D. synonymousAGlu [E]3100
contig referenceGGlu [E]3100
1984792374 rs766898922 0.000byFreq synonymousTLeu [L]1102
contig referenceCLeu [L]1102
1984798380 rs749958872 0.000 missenseASer [S]1104
missenseTCys [C]1104
contig referenceCArg [R]1104
1984799381 rs760018110 0.000byFreq missenseAHis [H]2104
missenseTLeu [L]2104
contig referenceGArg [R]2104
1984800382 rs753058591 0.000byFreq synonymousGArg [R]3104
contig referenceCArg [R]3104
1984801383 rs1272884614 N.D. missenseTTyr [Y]1105
contig referenceCHis [H]1105
1984803385 rs962089141 N.D. synonymousTHis [H]3105
contig referenceCHis [H]3105
1984804386 rs1341855876 N.D. missenseTCys [C]1106
contig referenceASer [S]1106
1984817399 rs947853655 N.D. missenseCPro [P]2110
contig referenceTLeu [L]2110
1984818400 rs758750318 0.000 synonymousGLeu [L]3110
contig referenceCLeu [L]3110
1984822404 rs778201726 0.000byFreq missenseTSer [S]1112
contig referenceAThr [T]1112
1984823405 rs368889722 0.000byCluster YesmissenseAAsn [N]2112
missenseTIle [I]2112
contig referenceCThr [T]2112
1984824406 rs1402014708 N.D. synonymousAThr [T]3112
contig referenceCThr [T]3112
1984833415 rs757519057 0.000 synonymousTAla [A]3115
contig referenceCAla [A]3115
1984836418 rs898349806 N.D. synonymousTTyr [Y]3116
contig referenceCTyr [Y]3116
1984837419 rs781395247 0.000 missenseAAsn [N]1117
contig referenceTTyr [Y]1117
1984839421 rs745983562 0.000byFreq synonymousTTyr [Y]3117
contig referenceCTyr [Y]3117
1984840422 rs201603991 0.000byClusterWith1000GenomeData0.0002 YesmissenseGAla [A]1118
missenseTSer [S]1118
contig referenceCPro [P]1118
1984842424 rs1276434133 N.D. synonymousAPro [P]3118
contig referenceCPro [P]3118
1984843425 rs780196676 0.000 missenseCHis [H]1119
contig referenceGAsp [D]1119
1984845427 rs1219544893 N.D. missenseGGlu [E]3119
contig referenceCAsp [D]3119
1984846428 rs1255193848 N.D. missenseAMet [M]1120
contig referenceCLeu [L]1120
1984848430 rs749260043 0.000 synonymousCLeu [L]3120
contig referenceGLeu [L]3120
1984849431 rs768270980 0.000 missenseTSer [S]1121
contig referenceCPro [P]1121
1984850432 rs370700293 0.000byCluster YesmissenseAHis [H]2121
contig referenceCPro [P]2121
1984855437 rs1411611534 N.D. missenseTSer [S]1123
contig referenceCPro [P]1123
1984856438 rs774235374 0.000byFreq missenseGArg [R]2123
missenseTLeu [L]2123
contig referenceCPro [P]2123
1984861443 rs771809901 0.000byFreq nonsenseT1125
contig referenceCGln [Q]1125
1984862444 rs1190836269 N.D. missenseGArg [R]2125
contig referenceAGln [Q]2125
1984866448 rs1264763106 N.D. synonymousAGln [Q]3126
contig referenceGGln [Q]3126
1984868450 rs772682634 0.000 missenseGArg [R]2127
contig referenceAGln [Q]2127
1984870452 rs1477936272 N.D. missenseAAsn [N]1128
contig referenceGAsp [D]1128
1984875457 rs1172344686 N.D. missenseAIle [I]3129
contig referenceGMet [M]3129
1984876458 rs980288156 N.D. missenseAThr [T]1130
contig referenceGAla [A]1130
1984877459 rs760247120 0.000 missenseAAsp [D]2130
contig referenceCAla [A]2130
1984881463 rs765722914 0.000byFreq synonymousAGln [Q]3131
contig referenceGGln [Q]3131
1984884466 rs753132528 0.000 synonymousTPhe [F]3132
contig referenceCPhe [F]3132
1984887469 rs528813454 0.000With1000GenomeData0.0002 missenseGMet [M]3133
contig referenceAIle [I]3133
1984888470 rs1464878709 N.D. missenseTTyr [Y]1134
contig referenceCHis [H]1134
1984898480 rs1174790105 N.D. missenseGCys [C]2137
contig referenceCSer [S]2137
1984908490 rs1403499397 N.D. synonymousTTyr [Y]3140
contig referenceCTyr [Y]3140
1984909491 rs763545328 0.000byFreq missenseTSer [S]1141
contig referenceCPro [P]1141
1984910492 rs373446345 0.000byCluster YesmissenseTLeu [L]2141
contig referenceCPro [P]2141
1984911493 rs757388602 0.000 synonymousTPro [P]3141
contig referenceCPro [P]3141
1984913495 rs781628694 0.000 missenseATyr [Y]2142
contig referenceGCys [C]2142
1984917499 rs750515991 0.000byFreq missenseTAsp [D]3143
contig referenceGGlu [E]3143
1984920502 rs1267145037 N.D. synonymousAGlu [E]3144
contig referenceGGlu [E]3144
1984925507 rs756203483 0.000 missenseTVal [V]2146
contig referenceCAla [A]2146
1984932514 rs1235179082 N.D. synonymousTAsp [D]3148
contig referenceCAsp [D]3148
1984933515 rs369886365 N.D. YessynonymousTLeu [L]1149
contig referenceCLeu [L]1149
1984936518 rs1275262355 N.D. synonymousCArg [R]1150
contig referenceAArg [R]1150
1984943525 rs1222193741 N.D. missenseCThr [T]2152
contig referenceGArg [R]2152
1985867527 rs1046502 0.269byClusterbyFreqWith1000GenomeData0.2308 YessynonymousTLeu [L]1153
contig referenceCLeu [L]1153
1985869529 rs896073053 N.D. synonymousALeu [L]3153
synonymousCLeu [L]3153
contig referenceGLeu [L]3153
1985878538 rs1244997202 N.D. missenseGLys [K]3156
contig referenceCAsn [N]3156
1985891551 rs760957301 0.000 missenseGGly [G]1161
missenseTCys [C]1161
contig referenceCArg [R]1161
1985892552 rs766748062 0.000byFreq missenseAHis [H]2161
contig referenceGArg [R]2161
1985895555 rs1437002371 N.D. missenseAAsn [N]2162
contig referenceCThr [T]2162
1985896556 rs1197103324 N.D. synonymousTThr [T]3162
contig referenceCThr [T]3162
1985897557 rs753862865 0.000byCluster missenseTTrp [W]1163
contig referenceCArg [R]1163
1985898558 rs755147804 0.000 missenseAGln [Q]2163
missenseTLeu [L]2163
contig referenceGArg [R]2163
1985901561 rs1181856698 N.D. missenseTVal [V]2164
contig referenceCAla [A]2164
1985905565 rs1254088024 N.D. synonymousTCys [C]3165
contig referenceCCys [C]3165
1985906566 rs36041021 0.126byClusterbyFreqWith1000GenomeData0.0331 YesmissenseCLeu [L]1166
missenseCLeu [L]1166
missenseCLeu [L]1166
missenseGVal [V]1166
missenseGVal [V]1166
missenseGVal [V]1166
contig referenceTPhe [F]1166
contig referenceTPhe [F]1166
contig referenceTPhe [F]1166
1985910570 rs1165875692 N.D. missenseTIle [I]2167
contig referenceCThr [T]2167
1985912572 rs201762532 0.000byClusterbyFreq YesnonsenseT1168
missenseALys [K]1168
contig referenceCGln [Q]1168
1985920580 rs1464310134 N.D. synonymousALeu [L]3170
contig referenceGLeu [L]3170
1985921581 rs200522227 N.D.byCluster YesmissenseGGly [G]1171
contig referenceTCys [C]1171
1985922582 rs1172541426 N.D. missenseATyr [Y]2171
contig referenceGCys [C]2171
1985924584 rs758350837 0.000byFreq missenseAAsn [N]1172
contig referenceCHis [H]1172
1985926586 rs145995643 0.000byCluster YessynonymousTHis [H]3172
contig referenceCHis [H]3172
1985927587 rs371922095 0.000 YesmissenseGVal [V]1173
contig referenceCLeu [L]1173
1985930590 rs746842124 0.000byFreq missenseGAsp [D]1174
contig referenceCHis [H]1174
1985931591 rs1380639933 N.D. missenseGArg [R]2174
contig referenceAHis [H]2174
1985932592 rs756895320 0.000byClusterbyFreq synonymousTHis [H]3174
contig referenceCHis [H]3174
1985933593 rs1213980840 N.D. missenseGAsp [D]1175
contig referenceAAsn [N]1175
1985934594 rs780954807 0.000byClusterbyFreq missenseGSer [S]2175
contig referenceAAsn [N]2175
1985936596 rs745520506 0.000byFreq nonsenseT1176
contig referenceGGlu [E]1176
1985937597 rs1268884974 N.D. missenseGGly [G]2176
contig referenceAGlu [E]2176
1985938598 rs200006442 0.000byClusterWith1000GenomeData0.0002 YesmissenseCAsp [D]3176
contig referenceAGlu [E]3176
1985939599 rs1220148687 N.D. missenseAMet [M]1177
contig referenceGVal [V]1177
1985940600 rs201959073 0.000byClusterWith1000GenomeData0.0002 YesmissenseGGly [G]2177
contig referenceTVal [V]2177
1985941601 rs1210441585 N.D. synonymousCVal [V]3177
contig referenceGVal [V]3177
1985944604 rs774893508 0.000 synonymousTAsn [N]3178
contig referenceCAsn [N]3178
1985945605 rs201112184 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTCys [C]1179
contig referenceCArg [R]1179
1985946606 rs199541169 0.000byClusterbyFreq YesmissenseAHis [H]2179
contig referenceGArg [R]2179
1985947607 rs773681926 0.000 synonymousTArg [R]3179
contig referenceCArg [R]3179
1985948608 rs1188721575 N.D. missenseGGlu [E]1180
contig referenceALys [K]1180
1985953613 rs139941314 0.000byCluster YessynonymousTLeu [L]3181
contig referenceGLeu [L]3181
1985954614 rs866683967 N.D.byCluster missenseASer [S]1182
contig referenceGGly [G]1182
1985955615 rs200344292 0.000byClusterWith1000GenomeData0.0002 YesmissenseAAsp [D]2182
contig referenceGGly [G]2182
1985956616 rs1196125347 N.D. synonymousAGly [G]3182
contig referenceCGly [G]3182
1985957617 rs1419899342 N.D. missenseGGlu [E]1183
contig referenceALys [K]1183
1985960620 rs183638147 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseAThr [T]1184
contig referenceCPro [P]1184
1985961621 rs1387079177 N.D. missenseTLeu [L]2184
contig referenceCPro [P]2184
1985963623 rs776857102 0.000 missenseAAsn [N]1185
contig referenceGAsp [D]1185
1985965625 rs1405444823 N.D. synonymousTAsp [D]3185
contig referenceCAsp [D]3185
1985968628 rs142220504 0.000byClusterbyFreqWith1000GenomeData0.0004 YesmissenseGLeu [L]3186
synonymousTPhe [F]3186
contig referenceCPhe [F]3186
1985969629 rs1028553365 N.D. missenseAAsn [N]1187
contig referenceGAsp [D]1187
1985973633 rs752821388 0.000 missenseATyr [Y]2188
missenseTPhe [F]2188
contig referenceGCys [C]2188
1985975635 rs762842175 0.000 missenseCPro [P]1189
contig referenceTSer [S]1189
1985976636 rs373135339 0.000byCluster YesnonsenseG2189
missenseTLeu [L]2189
contig referenceCSer [S]2189
1985979639 rs751340896 0.000 missenseCThr [T]2190
contig referenceALys [K]2190
1985981641 rs756987474 0.000 missenseAMet [M]1191
contig referenceGVal [V]1191
1985985645 rs1363034255 N.D. missenseGGly [G]2192
contig referenceAAsp [D]2192
1985986646 rs968617998 N.D. synonymousCAsp [D]3192
contig referenceTAsp [D]3192
1985987647 rs1465478128 N.D. missenseALys [K]1193
contig referenceGGlu [E]1193
1985989649 rs1218976586 N.D. missenseCAsp [D]3193
synonymousAGlu [E]3193
contig referenceGGlu [E]3193
1985990650 rs780851934 0.000byFreq missenseTCys [C]1194
contig referenceCArg [R]1194
1985994654 rs755745663 0.000 nonsenseA2195
contig referenceGTrp [W]2195
1985996656 rs370475970 0.000byClusterbyFreq YesmissenseTCys [C]1196
contig referenceCArg [R]1196
1985997657 rs201243520 0.000byClusterbyFreqWith1000GenomeData0.0006 YesmissenseAHis [H]2196
contig referenceGArg [R]2196
1985998658 rs1802834 0.126byClusterbyFreqWith1000GenomeData0.0333 YessynonymousTArg [R]3196
synonymousTArg [R]3196
synonymousTArg [R]3196
contig referenceCArg [R]3196
contig referenceCArg [R]3196
contig referenceCArg [R]3196
1985999659 rs140398555 0.000byClusterbyFreq YesmissenseAAsn [N]1197
contig referenceGAsp [D]1197
1986001661 rs28738719 0.001byClusterbyFreqWith1000GenomeData0.0004 YesmissenseGGlu [E]3197
synonymousTAsp [D]3197
contig referenceCAsp [D]3197
1986002662 rs147568500 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseASer [S]1198
missenseTCys [C]1198
contig referenceGGly [G]1198
1986003663 rs1427072801 N.D. missenseCAla [A]2198
contig referenceGGly [G]2198
1986006666 rs1454651553 N.D. nonsenseA2199
contig referenceGTrp [W]2199
1986007667 rs759777543 0.000 nonsenseA3199
contig referenceGTrp [W]3199
1986010670 rs200271594 0.000byClusterbyFreqWith1000GenomeData0.0006 YessynonymousALys [K]3200
contig referenceGLys [K]3200
1986011671 rs142042300 0.000byClusterbyFreq YesmissenseAAsn [N]1201
missenseCHis [H]1201
contig referenceGAsp [D]1201
1986012672 rs764171720 0.000 missenseCAla [A]2201
contig referenceAAsp [D]2201
1986014674 rs751428853 0.000 missenseASer [S]1202
contig referenceGGly [G]1202
1986018678 rs761687015 0.000 missenseGCys [C]2203
contig referenceCSer [S]2203
1986019679 rs192203480 0.000byClusterWith1000GenomeData0.0002 YessynonymousTSer [S]3203
contig referenceCSer [S]3203
1986020680 rs767293111 0.000byFreq missenseCArg [R]1204
contig referenceTCys [C]1204
1986021681 rs889082052 N.D. missenseCSer [S]2204
contig referenceGCys [C]2204
1986022682 rs1449443485 N.D. synonymousCCys [C]3204
contig referenceTCys [C]3204
1986024684 rs1007556775 N.D. missenseCAla [A]2205
contig referenceAAsp [D]2205
1986026686 rs750234939 0.000 CGln [Q]1206
contig referenceT1206
1986026686 rs776890492 0.000byFreq synonymousAG1206
contig reference-1206