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dbSNP

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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.
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
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