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SNP linked to Gene (geneID:598) 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): 10
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_017027993.1minus strandXP_016883482.1reverseNT_011362.11GRCh38.p7View snp on GeneModel
XM_011528964.2minus strandXP_011527266.1reverseNT_011362.11GRCh38.p7View snp on GeneModel
NM_138578.2minus strandNP_612815.1reverseNT_011362.11GRCh38.p7View snp on GeneModel
NM_001322242.1minus strandNP_001309171.1reverseNT_011362.11GRCh38.p7View snp on GeneModel
NM_001322240.1minus strandNP_001309169.1reverseNT_011362.11GRCh38.p7View snp on GeneModel
NM_001322239.1minus strandNP_001309168.1reverseNT_011362.11GRCh38.p7View snp on GeneModel
NM_001317921.1minus strandNP_001304850.1reverseNT_011362.11GRCh38.p7View snp on GeneModel
NM_001317920.1minus strandNP_001304849.1reverseNT_011362.11GRCh38.p7View snp on GeneModel
NM_001317919.1minus strandNP_001304848.1reverseNT_011362.11GRCh38.p7View snp on GeneModel
NM_001191.3minus strandNP_001182.1reverseNT_011362.11GRCh38.p7View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
XR_936599.2192, 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
316659561306 rs1388146136 N.D. missenseAGln [Q]2232
contig referenceGArg [R]2232
316659571305 rs746342082 0.000 missenseTTrp [W]1232
contig referenceCArg [R]1232
316659641298 rs150204038 0.000byCluster synonymousGLeu [L]3229
contig referenceCLeu [L]3229
316659681294 rs756307657 0.000 missenseTLeu [L]2228
contig referenceCSer [S]2228
316659701292 rs1436304497 N.D. synonymousTGly [G]3227
contig referenceCGly [G]3227
316659741288 rs11550472 N.D. missenseCPro [P]2226
contig referenceTLeu [L]2226
316659761286 rs1485169545 N.D. synonymousCLeu [L]3225
contig referenceGLeu [L]3225
316659831279 rs7362890 N.D. missenseGGly [G]2223
contig referenceTVal [V]2223
316659841278 rs780264826 0.000 missenseAMet [M]1223
missenseCLeu [L]1223
contig referenceGVal [V]1223
316659851277 rs201204270 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTGly [G]3222
contig referenceCGly [G]3222
316659871275 rs768692210 0.000byFreq missenseASer [S]1222
missenseTCys [C]1222
contig referenceGGly [G]1222
316659881274 rs543917106 0.000byFreqWith1000GenomeData0.0002 synonymousGAla [A]3221
synonymousTAla [A]3221
contig referenceCAla [A]3221
316659961266 rs772077664 0.000 missenseGAla [A]1219
contig referenceAThr [T]1219
316659991263 rs1203035801 N.D. missenseCLeu [L]1218
contig referenceAMet [M]1218
316660021260 rs1198306848 N.D. missenseASer [S]1217
contig referenceGGly [G]1217
316660031259 rs773174390 0.000 synonymousAThr [T]3216
synonymousTThr [T]3216
contig referenceGThr [T]3216
316660041258 rs1447088802 N.D. missenseTMet [M]2216
contig referenceCThr [T]2216
316660111251 rs558849192 0.000With1000GenomeData0.0002 missenseCLeu [L]1214
contig referenceTPhe [F]1214
316660161246 rs763223337 0.000byFreq missenseAHis [H]2212
contig referenceGArg [R]2212
316660171245 rs577055474 0.000byCluster missenseTCys [C]1212
contig referenceCArg [R]1212
316660181244 rs1175150814 N.D. synonymousTAsn [N]3211
contig referenceCAsn [N]3211
316660241238 rs945582919 N.D. synonymousAArg [R]3209
contig referenceCArg [R]3209
316660251237 rs768665664 N.D. missenseAHis [H]2209
missenseTLeu [L]2209
contig referenceGArg [R]2209
316660261236 rs759194807 0.000byFreq missenseTCys [C]1209
contig referenceCArg [R]1209
316660371225 rs764743032 0.000 missenseCThr [T]2205
contig referenceALys [K]2205
316660381224 rs1160520461 N.D. missenseCGln [Q]1205
contig referenceALys [K]1205
316660431219 rs930721821 N.D. missenseAAsn [N]2203
contig referenceGSer [S]2203
316660441218 rs1385688261 N.D. missenseTCys [C]1203
contig referenceASer [S]1203
316660471215 rs751979681 0.000 missenseALys [K]1202
contig referenceGGlu [E]1202
316660481214 rs757599194 0.000byFreq synonymousTAla [A]3201
contig referenceCAla [A]3201
316660511211 rs375110827 0.000 YessynonymousCAla [A]3200
contig referenceAAla [A]3200
316660541208 rs200117616 0.000byClusterbyFreq YessynonymousTAla [A]3199
contig referenceAAla [A]3199
316660571205 rs751021951 0.000 synonymousCAsn [N]3198
contig referenceTAsn [N]3198
316660601202 rs756681825 0.000 synonymousTAsn [N]3197
contig referenceCAsn [N]3197
316660631199 rs1349020034 N.D. synonymousAGly [G]3196
synonymousTGly [G]3196
contig referenceGGly [G]3196
316660691193 rs577378728 0.000byFreqWith1000GenomeData0.0004 synonymousTLeu [L]3194
contig referenceCLeu [L]3194
316660711191 rs749320983 0.000 missenseTPhe [F]1194
contig referenceCLeu [L]1194
316660781184 rs755249882 0.000 synonymousCPhe [F]3191
contig referenceTPhe [F]3191
316660831179 rs1336276367 N.D. missenseGAla [A]1190
contig referenceAThr [T]1190
317216581172 rs1338856622 N.D. synonymousTGly [G]3187
contig referenceCGly [G]3187
317216601170 rs755052731 0.000 missenseASer [S]1187
contig referenceGGly [G]1187
317216611169 rs778992647 0.000byFreq synonymousTGly [G]3186
contig referenceCGly [G]3186
317216631167 rs752920927 0.000 missenseASer [S]1186
contig referenceGGly [G]1186
317216641166 rs758643540 0.000 synonymousTAsn [N]3185
contig referenceCAsn [N]3185
317216791151 rs777551799 0.000 synonymousAPro [P]3180
contig referenceTPro [P]3180
317216801150 rs746751843 0.000 missenseTLeu [L]2180
contig referenceCPro [P]2180
317216851145 rs371362273 0.000byClusterbyFreq YessynonymousCLeu [L]3178
synonymousGLeu [L]3178
contig referenceALeu [L]3178
317216871143 rs374887148 0.000byCluster YessynonymousTLeu [L]1178
contig referenceCLeu [L]1178
317216911139 rs745790964 0.000byFreq missenseGGlu [E]3176
contig referenceCAsp [D]3176
317217061124 rs1337556197 N.D. synonymousAAla [A]3171
contig referenceCAla [A]3171
317217081122 rs1409233990 N.D. missenseCPro [P]1171
contig referenceGAla [A]1171
317217151115 rs769242031 0.000byFreq synonymousGAla [A]3168
contig referenceTAla [A]3168
317217191111 rs199692294 N.D.With1000GenomeData YesmissenseTVal [V]2167
contig referenceCAla [A]2167
317217201110 rs372986095 0.000byClusterbyFreq YesmissenseAThr [T]1167
contig referenceGAla [A]1167
317217211109 rs762514744 0.000byFreq synonymousTIle [I]3166
contig referenceCIle [I]3166
317217251105 rs1468552717 N.D. missenseAGln [Q]2165
contig referenceGArg [R]2165
317217281102 rs1442234448 N.D. missenseAAsn [N]2164
contig referenceGSer [S]2164
317217341096 rs940931151 N.D. missenseCSer [S]2162
contig referenceTLeu [L]2162
317217381092 rs1040490728 N.D. missenseCLeu [L]1161
contig referenceGVal [V]1161
317217391091 rs1470728627 N.D. synonymousAGln [Q]3160
contig referenceGGln [Q]3160
317217481082 rs768364028 0.000byFreq synonymousALys [K]3157
contig referenceGLys [K]3157
317217521078 rs1234916006 N.D. missenseTVal [V]2156
contig referenceAAsp [D]2156
317217541076 rs1407807516 N.D. synonymousGVal [V]3155
contig referenceAVal [V]3155
317217551075 rs773733186 0.000 missenseCAla [A]2155
contig referenceTVal [V]2155
317217561074 rs748329440 N.D. missenseAIle [I]1155
contig referenceGVal [V]1155
317217571073 rs1437822650 N.D. synonymousTSer [S]3154
contig referenceCSer [S]3154
317217581072 rs1293138947 N.D. missenseCThr [T]2154
contig referenceGSer [S]2154
317217631067 rs761080342 0.000byFreq synonymousAVal [V]3152
contig referenceGVal [V]3152
317217651065 rs766818591 0.000 missenseAMet [M]1152
contig referenceGVal [V]1152
317217661064 rs754323913 0.000byFreq synonymousTCys [C]3151
contig referenceCCys [C]3151
317217691061 rs1344875692 N.D. synonymousCLeu [L]3150
contig referenceGLeu [L]3150
317217721058 rs201719152 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousGAla [A]3149
contig referenceAAla [A]3149
317217751055 rs765234540 0.000byFreq synonymousAGly [G]3148
synonymousTGly [G]3148
contig referenceGGly [G]3148
317217811049 rs145707771 0.000byClusterbyFreq YessynonymousTPhe [F]3146
contig referenceCPhe [F]3146
317217841046 rs758675098 0.000 synonymousTSer [S]3145
contig referenceCSer [S]3145
317217931037 rs561461281 0.000With1000GenomeData0.0002 synonymousTAla [A]3142
contig referenceCAla [A]3142
317218021028 rs751391960 0.000byFreq synonymousTArg [R]3139
contig referenceCArg [R]3139
317218031027 rs757071036 0.000 missenseAHis [H]2139
contig referenceGArg [R]2139
317218061024 rs780912099 0.000 missenseCAla [A]2138
contig referenceGGly [G]2138
317218111019 rs745800708 0.000 missenseGLys [K]3136
contig referenceCAsn [N]3136
317218141016 rs1304842445 N.D. synonymousGVal [V]3135
contig referenceAVal [V]3135
317218171013 rs1201979387 N.D. synonymousAGly [G]3134
contig referenceGGly [G]3134
317218181012 rs1430465320 N.D. missenseAGlu [E]2134
contig referenceGGly [G]2134
317218241006 rs756076815 0.000byFreq missenseAGln [Q]2132
contig referenceGArg [R]2132
317218281002 rs1364350485 N.D. missenseCLeu [L]1131
contig referenceTPhe [F]1131
317218291001 rs111521268 N.D.byCluster YessynonymousTLeu [L]3130
contig referenceCLeu [L]3130
31721837993 rs1402012459 N.D. missenseGAsp [D]1128
contig referenceAAsn [N]1128
31721838992 rs377336613 0.000byCluster YessynonymousCVal [V]3127
contig referenceGVal [V]3127
31721849981 rs1343127692 N.D. missenseCGln [Q]1124
contig referenceGGlu [E]1124
31721853977 rs773815952 N.D. synonymousTSer [S]3122
contig referenceCSer [S]3122
31721854976 rs1036461217 N.D. missenseCThr [T]2122
contig referenceGSer [S]2122
31721856974 rs141475590 N.D. YessynonymousAGln [Q]3121
contig referenceGGln [Q]3121
31721860970 rs1454886481 N.D. missenseTPhe [F]2120
contig referenceATyr [Y]2120
31721861969 rs748811612 0.000 missenseCHis [H]1120
contig referenceTTyr [Y]1120
31721867963 rs768464418 0.000byFreq missenseGAla [A]1118
contig referenceAThr [T]1118
31721869961 rs774178481 0.000 missenseAGlu [E]2117
contig referenceGGly [G]2117
31721871959 rs369606077 0.000byClusterbyFreq YessynonymousGPro [P]3116
contig referenceAPro [P]3116
31721872958 rs771436075 0.000 missenseTLeu [L]2116
contig referenceCPro [P]2116
31721873957 rs776985963 0.000byFreq missenseGAla [A]1116
missenseTSer [S]1116
contig referenceCPro [P]1116
31721874956 rs148962546 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousGThr [T]3115
synonymousTThr [T]3115
contig referenceCThr [T]3115
31721880950 rs1216790135 N.D. synonymousTHis [H]3113
contig referenceCHis [H]3113
31721892938 rs374318445 0.000byCluster YessynonymousCThr [T]3109
synonymousGThr [T]3109
contig referenceAThr [T]3109
31721895935 rs1216552457 N.D. synonymousALeu [L]3108
contig referenceGLeu [L]3108
31721896934 rs139457299 0.000byClusterWith1000GenomeData0.0002 YesmissenseGArg [R]2108
contig referenceTLeu [L]2108
31721907923 rs764114817 0.000 synonymousGAla [A]3104
contig referenceAAla [A]3104
31721909921 rs1011204866 N.D. missenseAThr [T]1104
contig referenceGAla [A]1104
31721910920 rs751797236 0.000 synonymousAArg [R]3103
contig referenceGArg [R]3103
31721914916 rs868063030 N.D.byCluster missenseAGln [Q]2102
contig referenceGArg [R]2102
31721915915 rs1269977868 N.D. missenseGGly [G]1102
missenseTTrp [W]1102
contig referenceCArg [R]1102
31721919911 rs757407807 0.000 synonymousAArg [R]3100
contig referenceGArg [R]3100
31721924906 rs1345887482 N.D. synonymousTLeu [L]199
contig referenceCLeu [L]199
31721931899 rs147058885 0.000byCluster YessynonymousAGlu [E]396
contig referenceGGlu [E]396
31721934896 rs750222124 0.000byFreq synonymousTAsp [D]395
contig referenceCAsp [D]395
31721935895 rs1285137410 N.D. missenseGGly [G]295
contig referenceAAsp [D]295
31721936894 rs756056912 0.000byFreq missenseAAsn [N]195
contig referenceGAsp [D]195
31721943887 rs1159138040 N.D. synonymousAGlu [E]392
contig referenceGGlu [E]392
31721945885 rs780011539 0.000 missenseCGln [Q]192
contig referenceGGlu [E]192
31721948882 rs901023938 N.D. missenseGGly [G]191
contig referenceAArg [R]191
31721952878 rs749141019 0.000 synonymousAAla [A]389
contig referenceGAla [A]389
31721953877 rs1422601444 N.D. missenseTVal [V]289
contig referenceCAla [A]289
31721954876 rs996600059 N.D. missenseAThr [T]189
contig referenceGAla [A]189
31721957873 rs1344322122 N.D. missenseALys [K]188
contig referenceCGln [Q]188
31721963867 rs1304898407 N.D. missenseAIle [I]186
contig referenceGVal [V]186
31721968862 rs754557633 0.000 missenseTVal [V]284
contig referenceCAla [A]284
31721976854 rs778508953 0.000 synonymousAIle [I]381
contig referenceCIle [I]381
31721983847 rs1296280144 N.D. missenseTVal [V]279
contig referenceAGlu [E]279
31721984846 rs1375774824 N.D. missenseCGln [Q]179
contig referenceGGlu [E]179
31721986844 rs747807022 0.000byFreq missenseCPro [P]278
contig referenceGArg [R]278
31721987843 rs374460634 0.000byCluster YesmissenseTTrp [W]178
contig referenceCArg [R]178
31721989841 rs776915418 0.000 missenseTVal [V]277
contig referenceCAla [A]277
31721990840 rs746218159 0.000 missenseAThr [T]177
contig referenceGAla [A]177
31721993837 rs138364013 0.000byClusterbyFreq YesmissenseAAsn [N]176
contig referenceGAsp [D]176
31722005825 rs1021301074 N.D. missenseCArg [R]172
contig referenceASer [S]172
31722012818 rs1437797332 N.D. synonymousCThr [T]369
contig referenceTThr [T]369
31722013817 rs776091690 0.000 missenseTIle [I]269
contig referenceCThr [T]269
31722019811 rs763397770 0.000 missenseTVal [V]267
contig referenceGGly [G]267
31722022808 rs764167805 0.000 missenseTIle [I]266
contig referenceAAsn [N]266
31722026804 rs774413044 0.000byClusterbyFreq missenseAMet [M]165
contig referenceGVal [V]165
31722027803 rs762082702 0.000byFreq synonymousAAla [A]364
synonymousTAla [A]364
contig referenceGAla [A]364
31722029801 rs11550473 0.000 YesmissenseAThr [T]164
contig referenceGAla [A]164
31722030800 rs755970249 0.000byFreq synonymousTPro [P]363
contig referenceCPro [P]363
31722033797 rs1385752892 N.D. missenseAArg [R]362
contig referenceCSer [S]362
31722035795 rs766040914 0.000byFreq missenseGGly [G]162
contig referenceASer [S]162
31722036794 rs1168000429 N.D. missenseGGlu [E]361
contig referenceCAsp [D]361
31722037793 rs753840929 0.000 missenseGGly [G]261
contig referenceAAsp [D]261
31722040790 rs754896628 0.000 missenseTVal [V]260
contig referenceCAla [A]260
31722043787 rs778631817 0.000 missenseGArg [R]259
contig referenceTLeu [L]259
31722044786 rs1380940068 N.D. missenseGVal [V]159
synonymousTLeu [L]159
contig referenceCLeu [L]159
31722045785 rs918140042 N.D. missenseGGln [Q]358
contig referenceCHis [H]358
31722054776 rs970888461 N.D. synonymousGPro [P]355
contig referenceAPro [P]355
31722056774 rs752239780 0.000 missenseTSer [S]155
contig referenceCPro [P]155
31722058772 rs980933909 N.D. missenseGSer [S]254
contig referenceAAsn [N]254
31722061769 rs758032919 0.000byFreq missenseAAsp [D]253
contig referenceGGly [G]253
31722062768 rs1339243134 N.D. missenseTCys [C]153
contig referenceGGly [G]153
31722064766 rs1187252281 N.D. missenseGSer [S]252
contig referenceAAsn [N]252
31722066764 rs368700316 0.000 YessynonymousTIle [I]351
contig referenceCIle [I]351
31722067763 rs1213362070 N.D. missenseAAsn [N]251
contig referenceTIle [I]251
31722068762 rs777448557 0.000 missenseGVal [V]151
contig referenceAIle [I]151
31722074755 rs1308464449 N.D. frame shiftCGln [Q]349
contig reference-Ser [S]349
31722077753 rs376431497 0.000byCluster YesmissenseTSer [S]148
contig referenceCPro [P]148
31722087743 rs770213331 0.000 missenseCAsp [D]344
contig referenceGGlu [E]344
31722090740 rs11550476 0.000byFreqWith1000GenomeData0.0002 YessynonymousASer [S]343
contig referenceGSer [S]343
31722091739 rs145910874 0.000byClusterbyFreq YesmissenseTLeu [L]243
contig referenceCSer [S]243
31722093737 rs1237575319 N.D. synonymousGGlu [E]342
contig referenceAGlu [E]342
31722100730 rs769141052 0.000byFreq missenseAGlu [E]240
contig referenceGGly [G]240
31722101729 rs774465563 0.000 missenseAArg [R]140
contig referenceGGly [G]140
31722102728 rs761851595 0.000 synonymousGGlu [E]339
contig referenceAGlu [E]339
31722104726 rs1379893911 N.D. missenseALys [K]139
contig referenceGGlu [E]139
31722107723 rs1410318896 N.D. missenseGAla [A]138
contig referenceCPro [P]138
31722109721 rs1175487979 N.D. missenseAAsp [D]237
contig referenceCAla [A]237
31722111719 rs772005799 0.000byFreq synonymousAGlu [E]336
contig referenceGGlu [E]336
31722118712 rs773505559 N.D. missenseCThr [T]234
contig referenceGArg [R]234
31722119709 rs752845959 0.000byFreq -233
31722123707 rs760750448 0.000byFreq missenseCAsp [D]332
contig referenceGGlu [E]332
31722124706 rs766199813 0.000 missenseGGly [G]232
contig referenceAGlu [E]232
31722126704 rs1409340420 N.D. synonymousGGlu [E]331
contig referenceAGlu [E]331
31722132698 rs1293982067 N.D. missenseGGlu [E]329
contig referenceTAsp [D]329
31722134696 rs1325938235 N.D. missenseAAsn [N]129
contig referenceGAsp [D]129
31722137693 rs753681012 0.000 missenseCArg [R]128
contig referenceASer [S]128
31722154676 rs1296172344 N.D. missenseGCys [C]222
contig referenceATyr [Y]222
31722156674 rs1383470049 N.D. synonymousTGly [G]321
contig referenceAGly [G]321
31722168662 rs976570241 N.D. synonymousGLeu [L]317
contig referenceTLeu [L]317
31722172658 rs1272422177 N.D. missenseGArg [R]216
contig referenceALys [K]216
31722176654 rs759603556 0.000 missenseCHis [H]115
contig referenceTTyr [Y]115
31722177653 rs1287956797 N.D. synonymousTSer [S]314
contig referenceCSer [S]314
31722180650 rs11550474 0.000 YessynonymousTLeu [L]313
contig referenceCLeu [L]313
31722183646 rs1452829095 N.D. frame shift-Ser [S]212
contig referenceTTPhe [F]212
31722186644 rs1449707624 N.D. synonymousTAsp [D]311
contig referenceCAsp [D]311
31722191639 rs752292810 0.000 missenseAIle [I]110
contig referenceGVal [V]110
31722200630 rs1320914743 N.D. missenseALys [K]17
contig referenceGGlu [E]17
31722202628 rs148274815 0.001byClusterbyFreqWith1000GenomeData0.0002 YesmissenseAGln [Q]26
missenseTLeu [L]26
contig referenceGArg [R]26
31722203627 rs373119323 0.000byClusterbyFreq YesmissenseGGly [G]16
missenseTTrp [W]16
contig referenceCArg [R]16