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dbSNP

dbVar ClinVar GaP PubMed Nucleotide Protein
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SNP linked to Gene (geneID:7462) 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): 4
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_011516558.2plus strandXP_011514860.1forwardNT_007933.16GRCh38.p7<- currently shown
NM_032464.2plus strandNP_115853.2forwardNT_007933.16GRCh38.p7View snp on GeneModel
NM_032463.2plus strandNP_115852.1forwardNT_007933.16GRCh38.p7View snp on GeneModel
NM_014146.3plus strandNP_054865.2forwardNT_007933.16GRCh38.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_007933.16XM_011516558.2XP_011514860.1forwardplus strand207, 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
74215976551 rs1356168298 N.D. -11
74215977552 rs782589145 0.000 missenseCThr [T]21
contig referenceTMet [M]21
74215983558 rs375192826 0.000byCluster missenseTLeu [L]23
contig referenceCSer [S]23
74215984559 rs782305950 0.000byFreq synonymousASer [S]33
contig referenceGSer [S]33
74215987562 rs782682395 0.000byFreq synonymousAGly [G]34
synonymousTGly [G]34
contig referenceGGly [G]34
74215989564 rs782279424 0.000 missenseGSer [S]25
contig referenceCThr [T]25
74215993568 rs782389149 0.000byFreq missenseCAsp [D]36
contig referenceAGlu [E]36
74215994569 rs781985391 0.000byFreq synonymousTLeu [L]17
contig referenceCLeu [L]17
74215995570 rs750505751 0.000byCluster missenseAGln [Q]27
missenseGArg [R]27
contig referenceTLeu [L]27
74216005580 rs1167448135 N.D. synonymousTPro [P]310
contig referenceCPro [P]310
74216013588 rs543294747 0.000byClusterbyFreq missenseTVal [V]213
contig referenceCAla [A]213
74216014589 rs181485415 0.002byClusterbyFreqWith1000GenomeData0.0030 synonymousAAla [A]313
contig referenceGAla [A]313
74216015590 rs782051301 0.000byFreq synonymousTLeu [L]114
contig referenceCLeu [L]114
74216018593 rs1185397623 N.D. synonymousTLeu [L]115
contig referenceCLeu [L]115
74216020595 rs782817968 0.000byFreq synonymousALeu [L]315
contig referenceGLeu [L]315
74216026601 rs1473384437 N.D. synonymousALeu [L]317
contig referenceGLeu [L]317
74216029604 rs782024334 0.000 synonymousALeu [L]318
contig referenceGLeu [L]318
74216036611 rs782139941 0.001byFreq missenseCPro [P]121
contig referenceGAla [A]121
74216044619 rs782769659 0.000 synonymousCSer [S]323
contig referenceTSer [S]323
74216046621 rs1250727579 N.D. frame shift-Ala [A]226
contig referenceTGVal [V]226
74216047622 rs781818542 0.000 synonymousCLeu [L]324
contig referenceGLeu [L]324
74216050625 rs782359226 N.D. synonymousCCys [C]325
contig referenceTCys [C]325
74216052627 rs782442231 0.000byFreq missenseCAla [A]226
contig referenceTVal [V]226
74216053628 rs782264206 0.000byFreq (30bp) [cds-indel]332
74216054629 rs200742563 0.000byClusterWith1000GenomeData0.0002 missenseGGly [G]127
missenseTCys [C]127
contig referenceCArg [R]127
74216054629 rs1267215753 N.D. frame shiftTLeu [L]127
contig reference-Arg [R]127
74216055630 rs781894061 0.000 missenseAHis [H]227
contig referenceGArg [R]227
74216063638 rs369438020 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTCys [C]130
contig referenceCArg [R]130
74216064639 rs546287545 0.000With1000GenomeData0.0002 missenseAHis [H]230
contig referenceGArg [R]230
74216069644 rs782246100 0.000 missenseCArg [R]132
contig referenceGGly [G]132
74216825645 rs149564251 0.001byClusterbyFreqWith1000GenomeData0.0012 missenseTVal [V]232
contig referenceGGly [G]232
74216833653 rs782176185 0.000 missenseGGly [G]135
contig referenceAArg [R]135
74216841661 rs1376248095 N.D. frame shiftAAsn [N]339
contig reference-Ile [I]339
74216846666 rs868935686 N.D.byCluster missenseGSer [S]239
contig referenceTIle [I]239
74216847667 rs144269935 0.022byClusterbyFreqWith1000GenomeData0.0062 missenseGMet [M]339
contig referenceCIle [I]339
74216851671 rs782010812 0.000byFreq missenseGGlu [E]141
contig referenceCGln [Q]141
74216857677 rs782127731 0.000 synonymousCArg [R]143
contig referenceAArg [R]143
74219744685 rs368953885 0.000byClusterbyFreq synonymousALeu [L]345
contig referenceGLeu [L]345
74219745686 rs201707855 0.000byClusterbyFreq missenseTCys [C]146
contig referenceCArg [R]146
74219746687 rs11544216 0.001byClusterbyFreqWith1000GenomeData0.0006 missenseAHis [H]246
contig referenceGArg [R]246
74219751692 rs565404027 0.000With1000GenomeData0.0002 missenseAAsn [N]148
contig referenceGAsp [D]148
74219761702 rs781840947 0.000 missenseAAsn [N]251
contig referenceGSer [S]251
74219767708 rs782318010 0.000byFreq frame shiftGVal [V]255
contig reference-Ser [S]255
74219767708 rs1252988686 N.D. missenseTMet [M]253
contig referenceCThr [T]253
74219768709 rs782087080 0.000byFreq synonymousAThr [T]353
contig referenceGThr [T]353
74219775716 rs782685841 0.000byFreq missenseTTrp [W]156
contig referenceCArg [R]156
74219776717 rs781903165 0.000 missenseAGln [Q]256
contig referenceGArg [R]256
74219777718 rs1005011661 N.D. synonymousAArg [R]356
contig referenceGArg [R]356
74219964733 rs782154494 0.000 synonymousTVal [V]361
contig referenceCVal [V]361
74219965734 rs548651256 0.000byFreqWith1000GenomeData0.0002 missenseAArg [R]162
contig referenceGGly [G]162
74219967736 rs1343697913 N.D. synonymousAGly [G]362
contig referenceGGly [G]362
74219971740 rs781992128 0.000byClusterbyFreq missenseAThr [T]164
contig referenceGAla [A]164
74219972741 rs782110633 0.000 missenseTVal [V]264
contig referenceCAla [A]264
74219973742 rs782747201 0.000 synonymousGAla [A]364
contig referenceAAla [A]364
74219980749 rs1480856851 N.D. missenseCArg [R]167
contig referenceGGly [G]167
74219984753 rs781823269 0.000 missenseGArg [R]268
contig referenceCPro [P]268
74219987756 rs782464065 0.000 missenseGArg [R]269
contig referenceTLeu [L]269
74219988757 rs782693931 0.000byFreq synonymousALeu [L]369
contig referenceGLeu [L]369
74219990759 rs369645558 0.000byClusterbyFreq missenseAGlu [E]270
missenseTVal [V]270
contig referenceCAla [A]270
74219991760 rs375534059 0.001byClusterbyFreq synonymousAAla [A]370
contig referenceGAla [A]370
74219994763 rs782256015 0.000 missenseGGlu [E]371
contig referenceCAsp [D]371
74219999768 rs782496567 0.000byFreq missenseTVal [V]273
contig referenceCAla [A]273
74220005774 rs782606520 0.000 missenseGArg [R]275
contig referenceCThr [T]275
74220007776 rs782197163 0.000 missenseGGly [G]176
contig referenceAArg [R]176
74220217778 rs368915070 0.000byCluster synonymousAArg [R]376
contig referenceGArg [R]376
74220227788 rs782268640 0.000byFreq missenseGVal [V]180
contig referenceCLeu [L]180
74220232793 rs1382394165 N.D. missenseCPhe [F]381
contig referenceGLeu [L]381
74220238799 rs1332398611 N.D. synonymousTPhe [F]383
contig referenceCPhe [F]383
74220242803 rs782507800 0.000 missenseTSer [S]185
contig referenceCPro [P]185
74220243804 rs1393548808 N.D. missenseGArg [R]285
contig referenceCPro [P]285
74220246807 rs782635120 0.000byFreq missenseTIle [I]286
contig referenceGSer [S]286
74220252813 rs782217957 0.000byFreq missenseTVal [V]288
contig referenceAGlu [E]288
74220254815 rs868952277 N.D.byCluster missenseAAsn [N]189
contig referenceGAsp [D]189
74220589821 rs1406341043 N.D. missenseCPro [P]191
contig referenceGAla [A]191
74220593825 rs782681458 0.000 missenseTPhe [F]292
contig referenceCSer [S]292
74220704852 rs1356096841 N.D. missenseAGlu [E]2101
contig referenceGGly [G]2101
74220705853 rs782652767 0.000 synonymousCGly [G]3101
contig referenceAGly [G]3101
74220712860 rs781862465 0.000 missenseTTyr [Y]1104
contig referenceCHis [H]1104
74220714862 rs782499047 0.000byFreq synonymousTHis [H]3104
contig referenceCHis [H]3104
74220715863 rs782599968 0.000 missenseAArg [R]1105
missenseCArg [R]1105
contig referenceGGly [G]1105
74220716864 rs782198623 0.000byFreq missenseAGlu [E]2105
contig referenceGGly [G]2105
74220719867 rs782439942 0.000byFreq missenseTLeu [L]2106
contig referenceCSer [S]2106
74220720868 rs200881614 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousASer [S]3106
contig referenceGSer [S]3106
74220721869 rs1181518376 N.D. missenseCGln [Q]1107
contig referenceGGlu [E]1107
74220733881 rs201720579 0.002byClusterbyFreqWith1000GenomeData0.0004 missenseGVal [V]1111
contig referenceAIle [I]1111
74220734882 rs1234965860 N.D. missenseALys [K]2111
missenseCThr [T]2111
contig referenceTIle [I]2111
74221638884 rs370720266 0.000byClusterbyFreq missenseCHis [H]1112
contig referenceGAsp [D]1112
74221645891 rs1434589510 N.D. missenseCThr [T]2114
contig referenceTIle [I]2114
74221647893 rs782259329 0.000 missenseTSer [S]1115
contig referenceGAla [A]1115
74221650896 rs782467625 0.000 frame shiftTIle [I]1116
contig reference-Met [M]1116
74221651897 rs782380176 0.000byClusterbyFreq missenseCThr [T]2116
contig referenceTMet [M]2116
74221653899 rs1304902828 N.D. missenseALys [K]1117
contig referenceGGlu [E]1117
74221665911 rs909780706 N.D. missenseGGly [G]1121
contig referenceTTrp [W]1121
74221667913 rs201124958 0.000byClusterbyFreq missenseCCys [C]3121
contig referenceGTrp [W]3121
74221668914 rs1377556242 N.D. missenseAArg [R]1122
contig referenceGGly [G]1122
74221670916 rs1173396695 N.D. synonymousTGly [G]3122
contig referenceGGly [G]3122
74221671917 rs202213143 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseTTrp [W]1123
contig referenceCArg [R]1123
74221672918 rs782720726 0.000byFreq missenseAGln [Q]2123
contig referenceGArg [R]2123
74221676922 rs781927443 0.000 missenseALeu [L]3124
contig referenceCPhe [F]3124
74221678924 rs782169191 0.000 missenseTLeu [L]2125
contig referenceCSer [S]2125
74221679925 rs202080441 0.000byClusterbyFreq synonymousASer [S]3125
contig referenceGSer [S]3125
74221683929 rs1463218941 N.D. missenseAThr [T]1127
contig referenceCPro [P]1127
74221684930 rs781848433 0.000 missenseGArg [R]2127
contig referenceCPro [P]2127
74221688934 rs11544217 0.021byClusterbyFreqWith1000GenomeData0.0302 synonymousGPro [P]3128
contig referenceAPro [P]3128
74221688934 rs782579230 0.000 frame shift-Lys [K]3129
contig referenceAGlu [E]3129
74223726941 rs548830059 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseCHis [H]1131
missenseTTyr [Y]1131
contig referenceGAsp [D]1131
74223730945 rs1204735044 N.D. missenseGGly [G]2132
contig referenceAAsp [D]2132
74223735950 rs782602304 0.000 missenseGAsp [D]1134
contig referenceAAsn [N]1134
74223736951 rs782202594 0.000byFreq missenseGSer [S]2134
contig referenceAAsn [N]2134
74223738953 rs1255900542 N.D. missenseCPro [P]1135
contig referenceTSer [S]1135
74223740955 rs782317911 0.000byFreq synonymousASer [S]3135
contig referenceCSer [S]3135
74223743958 rs781912887 0.000byFreq synonymousTTyr [Y]3136
contig referenceCTyr [Y]3136
74223744959 rs549321328 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseALys [K]1137
contig referenceGGlu [E]1137
74223746961 rs980946211 N.D. missenseCAsp [D]3137
contig referenceGGlu [E]3137
74223748963 rs1227831229 N.D. missenseTIle [I]2138
contig referenceAAsn [N]2138
74223757972 rs782405752 0.000 missenseCThr [T]2141
contig referenceTIle [I]2141
74223758973 rs1377010995 N.D. synonymousAIle [I]3141
contig referenceTIle [I]3141
74223764979 rs199557204 0.000byClusterWith1000GenomeData0.0002 synonymousALys [K]3143
contig referenceGLys [K]3143
74223773988 rs369439460 0.000byCluster synonymousTThr [T]3146
contig referenceCThr [T]3146
74223779994 rs782746475 0.000byFreq missenseCAsp [D]3148
contig referenceGGlu [E]3148
74223780995 rs936509897 N.D. missenseGAla [A]1149
contig referenceAThr [T]1149
74224018999 rs768115538 N.D.byCluster missenseAAsp [D]2150
contig referenceGGly [G]2150
742240191000 rs969464548 N.D. synonymousCGly [G]3150
contig referenceTGly [G]3150
742240271008 rs782090482 0.000 -2154
742240281009 rs377055135 0.000byClusterbyFreq missenseCHis [H]3153
contig referenceGGln [Q]3153
742240311012 rs980513715 N.D. synonymousAGlu [E]3154
contig referenceGGlu [E]3154
742240321013 rs925016307 N.D. missenseASer [S]1155
contig referenceGGly [G]1155
742240361017 rs371014575 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseCThr [T]2156
contig referenceTIle [I]2156
742240381019 rs782261695 0.000 missenseASer [S]1157
contig referenceGGly [G]1157
742240471028 rs373811351 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseCArg [R]1160
contig referenceTCys [C]1160
742240511032 rs572064316 0.000byFreqWith1000GenomeData0.0002 missenseALys [K]2161
contig referenceGArg [R]2161
742240531034 rs868920577 N.D.byCluster missenseAArg [R]1162
contig referenceGGly [G]1162
742240541035 rs782217123 0.000 missenseTVal [V]2162
contig referenceGGly [G]2162
742240551036 rs782324347 0.000 synonymousCGly [G]3162
contig referenceGGly [G]3162
742240561037 rs781922941 0.000 missenseAAsn [N]1163
contig referenceGAsp [D]1163
742240581039 rs782164815 0.000 synonymousTAsp [D]3163
contig referenceCAsp [D]3163
742240651046 rs782812072 0.000 synonymousTLeu [L]1166
contig referenceCLeu [L]1166
742240661047 rs913767148 N.D. missenseCPro [P]2166
contig referenceTLeu [L]2166
742240701051 rs782331854 0.000byFreq frame shift-Pro [P]3170
contig reference(13bp)Leu [L]3170
742240711052 rs782008099 0.000 missenseAMet [M]1168
contig referenceCLeu [L]1168
742240751056 rs1301006690 N.D. missenseAAsp [D]2169
contig referenceCAla [A]2169
742240761057 rs782125070 0.000byFreq synonymousTAla [A]3169
contig referenceCAla [A]3169
742240781059 rs781922809 0.000 frame shift(13bp)Glu [E]2175
contig reference-Thr [T]2175
742240861067 rs375656190 0.000byCluster missenseASer [S]1173
contig referenceGGly [G]1173
742240991080 rs1289911909 N.D. missenseAAsp [D]2177
contig referenceGGly [G]2177
742241001081 rs542360178 0.000With1000GenomeData0.0002 synonymousCGly [G]3177
contig referenceTGly [G]3177
742241011082 rs782724628 0.000 missenseGVal [V]1178
contig referenceCLeu [L]1178
742241091090 rs781800059 0.000 synonymousTPro [P]3180
contig referenceCPro [P]3180
742241111092 rs782431267 0.000 missenseGCys [C]2181
contig referenceCSer [S]2181
742241131094 rs782798777 0.000 missenseAThr [T]1182
missenseTSer [S]1182
contig referenceGAla [A]1182
742241191100 rs781885001 0.000 missenseTSer [S]1184
contig referenceCPro [P]1184
742241201101 rs370494269 0.000byClusterbyFreq missenseGArg [R]2184
missenseTLeu [L]2184
contig referenceCPro [P]2184
742241211102 rs76067498 0.014byClusterbyFreqWith1000GenomeData0.0072 synonymousAPro [P]3184
contig referenceGPro [P]3184
742241221103 rs782162493 0.000byFreq -1186
742241271108 rs11980596 0.000byClusterbyFreqwithHapMapFreq missenseTAsp [D]3186
contig referenceAGlu [E]3186
742241301111 rs782474394 0.000 missenseAGlu [E]3187
contig referenceTAsp [D]3187
742241331114 rs782586905 0.000byFreq synonymousAGlu [E]3188
contig referenceGGlu [E]3188
742241341115 rs575670790 0.000With1000GenomeData0.0002 missenseALys [K]1189
contig referenceGGlu [E]1189
742241421123 rs782437954 0.000 synonymousAGlu [E]3191
contig referenceGGlu [E]3191
742241421123 rs1173659942 N.D. frame shift-Ile [I]3192
contig referenceGAsp [D]3192
742241431124 rs543296968 0.000byFreqWith1000GenomeData0.0004 missenseCHis [H]1192
contig referenceGAsp [D]1192
742241451126 rs782264776 0.000 synonymousCAsp [D]3192
contig referenceTAsp [D]3192
742241481129 rs782375209 0.000 nonsenseG3193
contig referenceTTyr [Y]3193
742241651146 rs1420170868 N.D. missenseAAsn [N]2199
contig referenceTIle [I]2199
742241681149 rs1192804715 N.D. missenseGArg [R]2200
contig referenceAHis [H]2200
742241691150 rs1477541004 N.D. missenseAGln [Q]3200
contig referenceTHis [H]3200
742241701151 rs781973954 0.000byFreq missenseALys [K]1201
contig referenceCGln [Q]1201
742241711152 rs373894850 0.000byClusterbyFreq missenseGArg [R]2201
contig referenceAGln [Q]2201
742241731154 rs782693609 0.000 missenseCArg [R]1202
contig referenceTTrp [W]1202
742241771158 rs782029314 0.000byClusterbyFreq missenseAHis [H]2203
contig referenceGArg [R]2203
742241781159 rs782139966 0.000byFreq synonymousTArg [R]3203
contig referenceCArg [R]3203
742241791160 rs550143767 0.000byClusterbyFreq missenseALys [K]1204
contig referenceGGlu [E]1204
742241841165 rs993571737 N.D. synonymousASer [S]3205
contig referenceCSer [S]3205
742241861167 rs564865753 0.000byFreqWith1000GenomeData0.0004 missenseCThr [T]2206
contig referenceGArg [R]2206
742241901171 rs1047857059 N.D. missenseCAsn [N]3207
contig referenceGLys [K]3207
742241941175 rs782095968 0.000 missenseGVal [V]1209
contig referenceAMet [M]1209
742241951176 rs1309587364 N.D. missenseCThr [T]2209
contig referenceTMet [M]2209
742241961177 rs782721255 0.000 missenseCIle [I]3209
contig referenceGMet [M]3209
742246401180 rs1216886764 N.D. synonymousAGly [G]3210
contig referenceGGly [G]3210
742246411181 rs1381383056 N.D. missenseALys [K]1211
contig referenceCGln [Q]1211
742246431183 rs1285031269 N.D. synonymousGGln [Q]3211
contig referenceAGln [Q]3211
742246511191 rs372672996 0.000byClusterbyFreq missenseALys [K]2214
missenseCThr [T]2214
contig referenceGArg [R]2214
742246571197 rs202072541 0.001byClusterbyFreq missenseTVal [V]2216
contig referenceCAla [A]2216
742246621202 rs782154809 0.000 missenseAThr [T]1218
contig referenceCPro [P]1218
742246631203 rs781842119 0.000byFreq missenseTLeu [L]2218
contig referenceCPro [P]2218
742246661206 rs892084456 N.D. missenseAAsp [D]2219
contig referenceGGly [G]2219
742246691209 rs781859231 0.000 missenseTLeu [L]2220
contig referenceCPro [P]2220
742246701210 rs368720732 0.000byClusterbyFreq synonymousAPro [P]3220
contig referenceGPro [P]3220
742246811221 rs1009232808 N.D. missenseTLeu [L]2224
contig referenceCPro [P]2224
742246851225 rs372109357 0.000byCluster missenseGGlu [E]3225
synonymousTAsp [D]3225
contig referenceCAsp [D]3225
742246861226 rs35725154 0.001byClusterbyFreqWith1000GenomeData0.0004 missenseALys [K]1226
contig referenceGGlu [E]1226
742246861226 rs782098274 0.001byFreq -1227
742246901230 rs782537912 0.000 missenseTVal [V]2227
contig referenceAGlu [E]2227
742246911231 rs202101280 N.D. missenseCAsp [D]3227
contig referenceGGlu [E]3227
742246921232 rs1179004570 N.D. missenseAAsn [N]1228
contig referenceGAsp [D]1228
742246941234 rs778698901 N.D.byCluster synonymousTAsp [D]3228
contig referenceCAsp [D]3228
742246951235 rs575611360 0.000With1000GenomeData0.0002 missenseAArg [R]1229
contig referenceGGly [G]1229
742246971237 rs782258496 0.000 synonymousAGly [G]3229
contig referenceGGly [G]3229
742247001240 rs782371614 0.000byFreq synonymousGGlu [E]3230
contig referenceAGlu [E]3230
742247021242 rs782616155 0.000 missenseTLeu [L]2231
contig referenceCPro [P]2231
742247031243 rs782207576 0.000byFreq synonymousAPro [P]3231
contig referenceGPro [P]3231
742247091249 rs782326473 0.000byFreq nonsenseA3233
synonymousTTyr [Y]3233
contig referenceCTyr [Y]3233
742247101250 rs201280536 0.000byClusterbyFreq missenseAMet [M]1234
contig referenceGVal [V]1234
742247151255 rs1354492179 N.D. synonymousCAsn [N]3235
contig referenceTAsn [N]3235
742247221262 rs373272699 0.000byClusterbyFreq missenseAMet [M]1238
contig referenceGVal [V]1238
742247251265 rs782410417 0.001byFreq missenseAThr [T]1239
contig referenceGAla [A]1239
742247421282 rs376172171 0.000byClusterbyFreq CTyr [Y]3244
contig referenceG3244