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SNP linked to Gene (geneID:51715) 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): 5
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_183227.2minus strandNP_899050.1reverseNT_007592.16GRCh38.p7<- currently shown
NM_016277.4minus strandNP_057361.3reverseNT_007592.16GRCh38.p7View snp on GeneModel
NM_001278668.1minus strandNP_001265597.1reverseNT_007592.16GRCh38.p7View snp on GeneModel
NM_001278667.1minus strandNP_001265596.1reverseNT_007592.16GRCh38.p7View snp on GeneModel
NM_001278666.1minus strandNP_001265595.1reverseNT_007592.16GRCh38.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_007592.16NM_183227.2NP_899050.1reverseminus strand215, coding

Region Chr.
dbSNP rs#
cluster id
Validation MAF Allele
3D Linkout Function dbSNP
Amino acid
571904611368 rs142290596 0.000byCluster synonymousG3238
contig referenceA3238
571904621367 rs181873164 0.000byClusterWith1000GenomeData0.0002 synonymousG2238
contig referenceA2238
571904631366 rs751619487 0.000 GGlu [E]1238
contig referenceT1238
571904661362 rs773619958 0.000 frame shift-Leu [L]3237
contig referenceACPro [P]3237
571904661363 rs1008463321 N.D. missenseAThr [T]1237
contig referenceCPro [P]1237
571904671362 rs1303773622 N.D. missenseGMet [M]3236
contig referenceAIle [I]3236
571904741355 rs1459898871 N.D. missenseCSer [S]2234
contig referenceGCys [C]2234
571904761353 rs755447089 0.000 synonymousTSer [S]3233
contig referenceCSer [S]3233
571904911337 rs759166782 0.000 frame shift-Lys [K]2228
contig referenceGAArg [R]2228
571904951334 rs982511042 N.D. missenseTIle [I]2227
contig referenceAAsn [N]2227
571905001329 rs781622209 0.000byFreq synonymousALys [K]3225
contig referenceGLys [K]3225
571905051324 rs748638791 0.000 missenseTSer [S]1224
contig referenceAThr [T]1224
571905061323 rs1179606440 N.D. frame shift-Pro [P]3224
contig referenceGThr [T]3224
571905081318 rs764844543 0.000 frame shift-Gly [G]1222
contig referenceCAAAGln [Q]1222
571905081321 rs1472033198 N.D. synonymousCArg [R]1223
contig referenceAArg [R]1223
571905091320 rs1457431181 N.D. synonymousGGln [Q]3222
contig referenceAGln [Q]3222
571905111318 rs756536052 0.000 missenseGGlu [E]1222
contig referenceCGln [Q]1222
571905171312 rs1196968920 N.D. missenseCHis [H]1220
contig referenceAAsn [N]1220
571905181311 rs1306320567 N.D. synonymousTPro [P]3219
contig referenceCPro [P]3219
571905201309 rs778080260 0.000 missenseTSer [S]1219
contig referenceCPro [P]1219
571905221307 rs745568867 0.000 missenseCThr [T]2218
contig referenceGArg [R]2218
571905241305 rs1323113913 N.D. synonymousALeu [L]3217
contig referenceTLeu [L]3217
571905261303 rs771703421 0.000 missenseTPhe [F]1217
contig referenceCLeu [L]1217
571905281301 rs774889725 0.000byFreq missenseGSer [S]2216
contig referenceAAsn [N]2216
571905291300 rs1470372071 N.D. missenseCHis [H]1216
contig referenceAAsn [N]1216
571905371292 rs1299014217 N.D. missenseTVal [V]2213
contig referenceAAsp [D]2213
571905381291 rs746460042 0.000 missenseAAsn [N]1213
contig referenceGAsp [D]1213
571905401289 rs1226836566 N.D. missenseCAla [A]2212
contig referenceGGly [G]2212
571905441285 rs1053849499 N.D. missenseASer [S]1211
contig referenceGGly [G]1211
571905481281 rs1318546806 N.D. synonymousTLeu [L]3209
contig referenceCLeu [L]3209
571905541275 rs768487982 0.000 synonymousCGly [G]3207
contig referenceTGly [G]3207
571905561273 rs1040461 0.177byClusterbyFreqbySubmitterwith2hitWith1000GenomeData0.1154 missenseASer [S]1207
missenseASer [S]1207
missenseASer [S]1207
contig referenceGGly [G]1207
contig referenceGGly [G]1207
contig referenceGGly [G]1207
571905581271 rs376037995 0.000byCluster missenseTLeu [L]2206
contig referenceCSer [S]2206
571905591270 rs202181599 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAThr [T]1206
contig referenceTSer [S]1206
571905641265 rs369307301 0.000byClusterbyFreq missenseGArg [R]2204
contig referenceAGln [Q]2204
571905671262 rs1388653996 N.D. missenseAAsp [D]2203
contig referenceGGly [G]2203
571905681261 rs763116254 0.000byFreq missenseASer [S]1203
contig referenceGGly [G]1203
571905691260 rs771204930 0.000byFreq synonymousTSer [S]3202
contig referenceCSer [S]3202
571905721257 rs372315508 0.000byCluster synonymousTHis [H]3201
contig referenceCHis [H]3201
571905781249 rs1432058604 N.D. -1199
571905811248 rs151203723 0.000byClusterbyFreq synonymousGGly [G]3198
contig referenceTGly [G]3198
571905881241 rs767578317 0.000byFreq missenseALys [K]2196
missenseTIle [I]2196
contig referenceCThr [T]2196
571905911238 rs1463789858 N.D. missenseGSer [S]2195
contig referenceAAsn [N]2195
571905931236 rs1332930442 N.D. synonymousCPhe [F]3194
contig referenceTPhe [F]3194
571905961233 rs746274530 N.D. synonymousGVal [V]3193
contig referenceCVal [V]3193
571905981231 rs1458429268 N.D. missenseTPhe [F]1193
contig referenceGVal [V]1193
571906001229 rs1162898857 N.D. missenseCAla [A]2192
contig referenceGGly [G]2192
571938481222 rs1337044929 N.D. missenseGGlu [E]1190
contig referenceALys [K]1190
571938491221 rs201056648 0.002 missenseALys [K]3189
contig referenceCAsn [N]3189
571938531217 rs1288532968 N.D. missenseCThr [T]2188
contig referenceGSer [S]2188
571938561214 rs1328254676 N.D. missenseCThr [T]2187
contig referenceGSer [S]2187
571938601210 rs1213319242 N.D. missenseCPro [P]1186
contig referenceTSer [S]1186
571938611209 rs765954442 0.000 synonymousCHis [H]3185
contig referenceTHis [H]3185
571938631207 rs1483578009 N.D. missenseGAsp [D]1185
contig referenceCHis [H]1185
571938641206 rs201731610 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAThr [T]3184
synonymousCThr [T]3184
synonymousTThr [T]3184
contig referenceGThr [T]3184
571938651205 rs140295281 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseALys [K]2184
missenseTMet [M]2184
contig referenceCThr [T]2184
571938691201 rs1473586028 N.D. synonymousTLeu [L]1183
contig referenceCLeu [L]1183
571938701200 rs377375386 0.000byClusterbyFreq missenseCAsp [D]3182
contig referenceAGlu [E]3182
571938791191 rs1411427174 N.D. synonymousAGlu [E]3179
contig referenceGGlu [E]3179
571938801190 rs150440590 0.001byClusterbyFreqWith1000GenomeData0.0004 missenseCAla [A]2179
contig referenceAGlu [E]2179
571938821188 rs201820320 0.000byClusterbyFreq synonymousCAla [A]3178
contig referenceTAla [A]3178
571938831187 rs1043367142 N.D. missenseTVal [V]2178
contig referenceCAla [A]2178
571938841186 rs368714640 0.000byCluster missenseTSer [S]1178
contig referenceGAla [A]1178
571938861184 rs746123959 0.000 missenseCThr [T]2177
contig referenceTIle [I]2177
571938871183 rs138217647 0.000byClusterbyFreq missenseCLeu [L]1177
contig referenceAIle [I]1177
571938881180 rs764044919 0.000 -1176
571938971173 rs772241977 0.000 synonymousGLeu [L]3173
synonymousTLeu [L]3173
contig referenceCLeu [L]3173
571939081162 rs1373113917 N.D. missenseTPhe [F]1170
contig referenceCLeu [L]1170
571939101160 rs1411084318 N.D. missenseGCys [C]2169
contig referenceATyr [Y]2169
571939111159 rs767528393 0.000 missenseCHis [H]1169
contig referenceTTyr [Y]1169
571939131157 rs1469467792 N.D. missenseTIle [I]2168
contig referenceALys [K]2168
571939201150 rs890106791 N.D. missenseAThr [T]1166
contig referenceGAla [A]1166
571939211149 rs1172417830 N.D. synonymousALeu [L]3165
contig referenceGLeu [L]3165
571939221148 rs760686383 0.000byFreq missenseCSer [S]2165
contig referenceTLeu [L]2165
571939271143 rs1194517337 N.D. missenseCAsn [N]3163
contig referenceGLys [K]3163
571939341136 rs1470037704 N.D. missenseGGly [G]2161
contig referenceTVal [V]2161
571947731132 rs1488359848 N.D. missenseCGln [Q]1160
contig referenceGGlu [E]1160
571947751130 rs768775237 0.000byFreq missenseGSer [S]2159
contig referenceAAsn [N]2159
571947801125 rs201981516 0.000byClusterWith1000GenomeData0.0002 YesmissenseALys [K]3157
contig referenceTAsn [N]3157
571947931112 rs1250287770 N.D. missenseGArg [R]2153
contig referenceALys [K]2153
571947961109 rs776526505 0.000 missenseAGlu [E]2152
contig referenceTVal [V]2152
571947981107 rs762417794 0.000 synonymousGSer [S]3151
contig referenceASer [S]3151
571948001105 rs765599394 0.000 missenseGAla [A]1151
contig referenceTSer [S]1151
571948031102 rs142831012 0.000byClusterbyFreq YesmissenseGAla [A]1150
missenseTSer [S]1150
contig referenceAThr [T]1150
571948081097 rs766848855 0.000 missenseGCys [C]2148
contig referenceATyr [Y]2148
571948191086 rs755805215 0.000 missenseTAsn [N]3144
contig referenceGLys [K]3144
571948221083 rs1186623990 N.D. missenseTPhe [F]3143
contig referenceALeu [L]3143
571948251080 rs763680429 0.000byFreq synonymousAArg [R]3142
contig referenceGArg [R]3142
571948261079 rs753247666 0.000byFreq missenseCThr [T]2142
contig referenceGArg [R]2142
571948391066 rs1435785424 N.D. missenseAThr [T]1138
contig referenceGAla [A]1138
571948421062 rs1438138090 N.D. frame shiftT3137
contig reference-Glu [E]3137
571948431062 rs757223201 0.000 synonymousCAla [A]3136
contig referenceTAla [A]3136
571964511051 rs1211401650 N.D. missenseCHis [H]1133
contig referenceAAsn [N]1133
571964531049 rs753397635 0.000byFreq missenseCThr [T]2132
contig referenceALys [K]2132
571964591043 rs1485030118 N.D. missenseCSer [S]2130
missenseTPhe [F]2130
contig referenceGCys [C]2130
571964641038 rs1379536030 N.D. synonymousCAsp [D]3128
contig referenceTAsp [D]3128
571964661036 rs200997551 0.000byClusterbyFreq YesmissenseAAsn [N]1128
contig referenceGAsp [D]1128
571964671035 rs764796730 0.000 synonymousCAsp [D]3127
contig referenceTAsp [D]3127
571964701032 rs750398740 0.000byFreq synonymousALeu [L]3126
contig referenceGLeu [L]3126
571964721030 rs758285349 0.000byFreq missenseGVal [V]1126
synonymousTLeu [L]1126
contig referenceCLeu [L]1126
571964761026 rs904897323 N.D. synonymousCAsp [D]3124
contig referenceTAsp [D]3124
571964801022 rs779859049 0.000 missenseCThr [T]2123
contig referenceTIle [I]2123
571964811021 rs113915088 0.500 YesmissenseGVal [V]1123
contig referenceAIle [I]1123
571964881014 rs113692611 0.500 YessynonymousGGln [Q]3120
contig referenceAGln [Q]3120
571964911011 rs1450531758 N.D. synonymousAVal [V]3119
contig referenceGVal [V]3119
571964961006 rs1021101111 N.D. missenseTPhe [F]1118
contig referenceCLeu [L]1118
571964971005 rs751291871 0.000byFreq synonymousGVal [V]3117
contig referenceAVal [V]3117
571965021000 rs138803099 0.000byClusterbyFreq YesmissenseGAla [A]1116
contig referenceAThr [T]1116
57196507995 rs1412940584 N.D. missenseCThr [T]2114
contig referenceTIle [I]2114
57196508994 rs1310101660 N.D. missenseTLeu [L]1114
contig referenceAIle [I]1114
57196510992 rs781327258 0.000 missenseTVal [V]2113
contig referenceAAsp [D]2113
57196511991 rs748398827 0.000 missenseTTyr [Y]1113
contig referenceGAsp [D]1113
57196513989 rs201306901 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTVal [V]2112
contig referenceGGly [G]2112
57196514988 rs777980453 0.000 missenseAArg [R]1112
contig referenceGGly [G]1112
57196515987 rs749833240 0.000 synonymousAVal [V]3111
contig referenceGVal [V]3111
57196516986 rs771522380 0.000byFreq missenseGGly [G]2111
contig referenceTVal [V]2111
57196517985 rs1485059302 N.D. missenseAMet [M]1111
contig referenceGVal [V]1111
57196519983 rs1208023116 N.D. missenseGGly [G]2110
contig referenceAGlu [E]2110
57196520982 rs1253324172 N.D. missenseALys [K]1110
missenseCGln [Q]1110
contig referenceGGlu [E]1110
57196521981 rs370959474 0.000byClusterbyFreq YessynonymousTAla [A]3109
contig referenceCAla [A]3109
57196526971 rs1168872090 N.D. -Ile [I]2106
57196527975 rs1180622476 N.D. synonymousCVal [V]3107
contig referenceAVal [V]3107
57196529973 rs1230988323 N.D. missenseAIle [I]1107
contig referenceGVal [V]1107
57196532967 rs780393504 0.000 frame shift-Lys [K]1105
contig referenceGAGAGlu [E]1105
57196533969 rs1173099637 N.D. missenseCAsp [D]3105
contig referenceGGlu [E]3105
57196537965 rs189316878 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseTIle [I]2104
contig referenceGArg [R]2104
57196547955 rs45479896 0.013byClusterbyFreqWith1000GenomeData0.0040 YesmissenseGAla [A]1101
contig referenceTSer [S]1101
57196552950 rs1170637769 N.D. missenseGGly [G]299
contig referenceCAla [A]299
57196556946 rs1320442469 N.D. missenseCGln [Q]198
contig referenceGGlu [E]198
57196558944 rs776209230 0.000 missenseATyr [Y]297
contig referenceTPhe [F]297
57196562940 rs1391087634 N.D. missenseAThr [T]196
contig referenceTSer [S]196
57196579923 rs1482096391 N.D. missenseTPhe [F]290
contig referenceCSer [S]290
57196586916 rs764166088 0.000byFreq missenseAMet [M]188
contig referenceGVal [V]188
57196587915 rs764774207 0.000byFreq synonymousALeu [L]387
synonymousGLeu [L]387
synonymousTLeu [L]387
contig referenceCLeu [L]387
57196588914 rs1437550316 N.D. missenseGArg [R]287
contig referenceTLeu [L]287
57196593909 rs374601145 0.000byClusterbyFreq YessynonymousCCys [C]385
contig referenceTCys [C]385
57196596906 rs1346414063 N.D. synonymousGAla [A]384
contig referenceTAla [A]384
57196601901 rs45460606 N.D.byCluster YesnonsenseT183
contig referenceCGln [Q]183
57196604898 rs766250966 0.000byFreq missenseAThr [T]182
missenseCPro [P]182
contig referenceGAla [A]182
57207631892 rs762512079 0.000byCluster nonsenseT180
missenseGGly [G]180
contig referenceCArg [R]180
57207633890 rs934807998 N.D. missenseGCys [C]279
contig referenceATyr [Y]279
57207634889 rs765870380 0.000 missenseCHis [H]179
contig referenceTTyr [Y]179
57207636887 rs748296616 N.D. missenseCSer [S]278
contig referenceATyr [Y]278
57207639884 rs1262256035 N.D. missenseAAsp [D]277
contig referenceCAla [A]277
57207640883 rs1052193932 N.D. missenseAThr [T]177
contig referenceGAla [A]177
57207645878 rs535496318 0.000With1000GenomeData0.0002 missenseGArg [R]275
contig referenceCThr [T]275
57207646877 rs774195943 0.000byFreq missenseTSer [S]175
contig referenceAThr [T]175
57207647876 rs759497648 0.000 synonymousCIle [I]374
contig referenceTIle [I]374
57207652871 rs752495893 0.000 missenseAThr [T]173
contig referenceGAla [A]173
57207654869 rs1242109809 N.D. missenseGGly [G]272
contig referenceAAsp [D]272
57207659864 rs1284418807 N.D. synonymousGGlu [E]370
contig referenceAGlu [E]370
57207660863 rs1450504070 N.D. missenseGGly [G]270
contig referenceAGlu [E]270
57207663860 rs756294176 0.000 missenseGGly [G]269
contig referenceAGlu [E]269
57207676847 rs1196342589 N.D. missenseGAla [A]165
contig referenceAThr [T]165
57207677846 rs764354115 0.000 missenseGGlu [E]364
contig referenceCAsp [D]364
57207678845 rs1384951730 N.D. missenseCAla [A]264
missenseTVal [V]264
contig referenceAAsp [D]264
57207679844 rs754099578 0.000 missenseAAsn [N]164
contig referenceGAsp [D]164
57207681838 rs1254437410 N.D. frame shift-Gly [G]162
contig referenceTTATGLeu [L]162
57207682841 rs756128993 0.000 missenseCArg [R]163
contig referenceTTrp [W]163
57207685838 rs779101760 0.000byFreq synonymousCLeu [L]162
contig referenceTLeu [L]162
57207686837 rs746408859 0.000 missenseAIle [I]361
contig referenceGMet [M]361
57207693830 rs201141007 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseCThr [T]259
missenseTIle [I]259
contig referenceGArg [R]259
57207698825 rs368714271 0.000byClusterbyFreq YessynonymousCAsp [D]357
contig referenceTAsp [D]357
57207699824 rs1229936747 N.D. missenseCAla [A]257
contig referenceAAsp [D]257
57207702821 rs1229665349 N.D. missenseCAla [A]256
contig referenceAGlu [E]256
57207704819 rs768999651 0.000byFreq missenseGGlu [E]355
synonymousCAsp [D]355
contig referenceTAsp [D]355
57207705818 rs772920591 0.000 missenseTVal [V]255
contig referenceAAsp [D]255
57207706817 rs1194580937 N.D. missenseAAsn [N]155
contig referenceGAsp [D]155
57207708815 rs748908515 0.000 missenseTIle [I]254
contig referenceAAsn [N]254
57207713810 rs371178954 0.000byClusterbyFreq YessynonymousGGln [Q]352
contig referenceAGln [Q]352
57210226809 rs770533291 0.000 missenseGArg [R]252
contig referenceAGln [Q]252
57210231804 rs1311410559 N.D. synonymousGGln [Q]350
contig referenceAGln [Q]350
57210235800 rs1036516247 N.D. missenseAGln [Q]249
contig referenceGArg [R]249
57210236799 rs1049674573 N.D. nonsenseT149
contig referenceCArg [R]149
57210244791 rs144837695 0.000byCluster YesmissenseCSer [S]246
contig referenceTPhe [F]246
57210254781 rs1169212362 N.D. missenseAArg [R]143
contig referenceGGly [G]143
57210256779 rs778289288 0.000 missenseCThr [T]242
contig referenceTIle [I]242
57210258777 rs759408401 0.000byFreq synonymousTThr [T]341
contig referenceCThr [T]341
57210262773 rs45442500 N.D.byCluster YesmissenseGArg [R]240
contig referenceALys [K]240
57210264771 rs771469793 0.000 synonymousALys [K]339
contig referenceGLys [K]339
57210267768 rs888229513 N.D. nonsenseA338
contig referenceCTyr [Y]338
57210274761 rs1476082158 N.D. missenseTIle [I]236
contig referenceALys [K]236
57210275760 rs1372354189 N.D. missenseGGlu [E]136
contig referenceALys [K]136
57210276759 rs576194133 N.D.byCluster synonymousGThr [T]335
contig referenceAThr [T]335
57210284751 rs775564217 0.000 missenseGVal [V]133
contig referenceAIle [I]133
57210285750 rs571935782 0.000byFreqWith1000GenomeData0.0006 synonymousTGly [G]332
contig referenceCGly [G]332
57210288747 rs201735614 0.000byClusterbyFreqWith1000GenomeData0.0004 YessynonymousGLys [K]331
contig referenceALys [K]331
57210291744 rs776515230 0.000byFreq missenseGTrp [W]330
contig referenceCCys [C]330
57210295740 rs1278352541 N.D. missenseGCys [C]229
contig referenceATyr [Y]229
57210298737 rs376394715 0.000byClusterbyFreq YesmissenseAGln [Q]228
contig referenceGArg [R]228
57210310725 rs1250903048 N.D. missenseCThr [T]224
contig referenceGSer [S]224
57210311724 rs1002043586 N.D. missenseGGly [G]124
contig referenceASer [S]124
57210324711 rs750598308 0.000 synonymousGAla [A]319
contig referenceAAla [A]319
57210326709 rs1337479331 N.D. missenseAThr [T]119
contig referenceGAla [A]119
57210327708 rs767442221 0.000byFreq synonymousGGly [G]318
contig referenceAGly [G]318
57210330705 rs141279756 0.000byClusterbyFreqWith1000GenomeData0.0010 YessynonymousCAsn [N]317
contig referenceTAsn [N]317
57210332703 rs1337558406 N.D. missenseGAsp [D]117
contig referenceAAsn [N]117
57210333702 rs1454253077 N.D. synonymousAGly [G]316
synonymousCGly [G]316
contig referenceGGly [G]316
57210340693 rs45469399 N.D.byCluster -315
57210344691 rs187541185 0.000byClusterWith1000GenomeData0.0002 YesmissenseAMet [M]113
contig referenceGVal [V]113
57210353682 rs755432344 0.000byFreq missenseGVal [V]110
contig referenceAIle [I]110
57210354681 rs1011685405 N.D. synonymousTAla [A]39
contig referenceCAla [A]39
57210356679 rs150655349 0.000byClusterbyFreq YesmissenseAThr [T]19
contig referenceGAla [A]19
57210357678 rs752991124 0.000byFreq synonymousTVal [V]38
contig referenceCVal [V]38
57210363672 rs756913677 0.000 missenseTIle [I]36
contig referenceGMet [M]36
57210364671 rs757383592 0.000byFreq missenseALys [K]26
missenseCThr [T]26
contig referenceTMet [M]26
57210366669 rs1460147050 N.D. missenseGGlu [E]35
contig referenceTAsp [D]35
57210367668 rs1327720346 N.D. missenseTVal [V]25
contig referenceAAsp [D]25
57210371664 rs1371438415 N.D. missenseALys [K]14
contig referenceGGlu [E]14
57210373662 rs1041668291 N.D. missenseCAla [A]23
contig referenceAGlu [E]23