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SNP linked to Gene (geneID:482) 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): 2
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_001678.4plus strandNP_001669.3forwardNT_010718.17GRCh38.p7<- currently shown
NM_001303263.1plus strandNP_001290192.1forwardNT_010718.17GRCh38.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_010718.17NM_001678.4NP_001669.3forwardplus strand209, 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
765384681 rs1483404421 N.D. missenseCLeu [L]11
contig referenceAMet [M]11
765385287 rs747095706 0.000byFreq missenseASer [S]13
missenseTCys [C]13
contig referenceCArg [R]13
765385388 rs536546994 0.000byFreqWith1000GenomeData0.0004 missenseAHis [H]23
contig referenceGArg [R]23
765385792 rs1296251259 N.D. synonymousGPro [P]34
contig referenceCPro [P]34
765386499 rs200779161 0.002 missenseALys [K]17
contig referenceGGlu [E]17
7653870105 rs781331275 0.000 missenseTPhe [F]19
contig referenceCLeu [L]19
7653873108 rs748315533 0.000 missenseCHis [H]110
contig referenceGAsp [D]110
7653877112 rs1300233467 N.D. missenseCAla [A]211
missenseGGly [G]211
contig referenceTVal [V]211
7653880115 rs770151267 0.000 missenseCThr [T]212
contig referenceTIle [I]212
7653882117 rs1235909501 N.D. missenseAIle [I]113
contig referenceGVal [V]113
7653884119 rs148306951 0.001byClusterbyFreqWith1000GenomeData0.0016 synonymousGVal [V]313
contig referenceCVal [V]313
7653886121 rs909781809 N.D. missenseGSer [S]214
contig referenceAAsn [N]214
7653887122 rs763475084 0.000byFreq missenseALys [K]314
contig referenceTAsn [N]314
7653893128 rs771392312 0.000 synonymousCSer [S]316
contig referenceTSer [S]316
7653896131 rs774891247 0.000 synonymousTAsp [D]317
contig referenceCAsp [D]317
7653897132 rs759035771 0.000byFreq missenseGAla [A]118
contig referenceAThr [T]118
7653903138 rs1051787846 N.D. missenseGGly [G]120
contig referenceASer [S]120
7653911146 rs368146020 0.000byClusterbyFreq synonymousTAsp [D]322
contig referenceCAsp [D]322
7653917152 rs1452611587 N.D. synonymousCHis [H]324
contig referenceTHis [H]324
7653922157 rs531342420 0.000byClusterbyFreq missenseGArg [R]226
missenseTLeu [L]226
contig referenceAGln [Q]226
7653929164 rs764059842 0.000 -329
7653929164 rs1409301508 N.D. synonymousTLeu [L]328
contig referenceCLeu [L]328
7653934169 rs1168318672 N.D. missenseGArg [R]230
contig referenceALys [K]230
7653938173 rs764000841 0.000 missenseGLeu [L]331
contig referenceCPhe [F]331
7653940175 rs1199955944 N.D. missenseCSer [S]232
contig referenceTLeu [L]232
7653945180 rs770644298 N.D. missenseAThr [T]134
missenseTSer [S]134
contig referenceCPro [P]134
7654056185 rs758319381 0.000 synonymousTTyr [Y]335
contig referenceCTyr [Y]335
7654057186 rs1052190576 N.D. missenseGAsp [D]136
contig referenceAAsn [N]136
7654058187 rs1002930865 N.D. missenseGSer [S]236
contig referenceAAsn [N]236
7654059188 rs767518673 0.000byFreq synonymousTAsn [N]336
contig referenceCAsn [N]336
7654060189 rs752825639 0.000 missenseAAsn [N]137
contig referenceGAsp [D]137
7654063192 rs1406666979 N.D. missenseGAla [A]138
contig referenceTSer [S]138
7654076205 rs34745087 0.006byClusterbyFreqWith1000GenomeData0.0098 missenseGArg [R]242
missenseGArg [R]242
missenseTLeu [L]242
missenseTLeu [L]242
contig referenceAGln [Q]242
contig referenceAGln [Q]242
7654080209 rs749499489 0.000 missenseTAsn [N]343
contig referenceGLys [K]343
7654082211 rs1186877401 N.D. -245
7654087216 rs1255131087 N.D. missenseAIle [I]146
contig referenceGVal [V]146
7654092221 rs1325510367 N.D. synonymousTCys [C]347
contig referenceCCys [C]347
7654093222 rs757566775 0.000byFreq missenseTCys [C]148
contig referenceCArg [R]148
7654094223 rs779294665 0.000byFreq missenseAHis [H]248
contig referenceGArg [R]248
7654095224 rs1406848501 N.D. synonymousTArg [R]348
contig referenceCArg [R]348
7654096225 rs746382385 0.000byFreq missenseAThr [T]149
missenseTSer [S]149
contig referenceCPro [P]149
7654099228 rs772681954 0.000 missenseCArg [R]150
contig referenceGGly [G]150
7654100229 rs776106709 0.000byFreq missenseAGlu [E]250
contig referenceGGly [G]250
7654101230 rs1642763 0.353byClusterbyFreqwith2hitWith1000GenomeData0.2101 synonymousGGly [G]350
contig referenceAGly [G]350
7654102231 rs768263993 0.000 missenseTCys [C]151
contig referenceCArg [R]151
7654103232 rs1467435395 N.D. missenseAHis [H]251
contig referenceGArg [R]251
7654109238 rs1270535489 N.D. missenseGCys [C]253
contig referenceATyr [Y]253
7654110239 rs1209948984 N.D. synonymousTTyr [Y]353
contig referenceCTyr [Y]353
7654111240 rs139562417 0.000byClusterbyFreq missenseALys [K]154
contig referenceGGlu [E]154
7654112241 rs761465658 0.000 missenseCAla [A]254
contig referenceAGlu [E]254
7654114243 rs764974809 0.000 nonsenseT155
contig referenceCGln [Q]155
7654116245 rs759813372 N.D. missenseCHis [H]355
contig referenceGGln [Q]355
7654120249 rs1221150973 N.D. missenseTTyr [Y]157
contig referenceGAsp [D]157
7654124253 rs1350259616 N.D. missenseGSer [S]258
contig referenceAAsn [N]258
7654128257 rs773014135 0.000 synonymousTGly [G]359
contig referenceAGly [G]359
7654131260 rs144189143 0.000 synonymousTVal [V]360
contig referenceCVal [V]360
7654136265 rs904747577 N.D. missenseGSer [S]262
contig referenceAAsn [N]262
7654137266 rs1354592166 N.D. synonymousTAsn [N]362
contig referenceCAsn [N]362
7654143272 rs762635037 0.000 synonymousGPro [P]364
synonymousTPro [P]364
contig referenceCPro [P]364
7654147276 rs145660136 0.000byClusterbyFreq missenseASer [S]166
missenseTCys [C]166
contig referenceCArg [R]166
7654148277 rs148893862 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAHis [H]266
missenseCPro [P]266
contig referenceGArg [R]266
7654149278 rs754089848 0.000 synonymousAArg [R]366
contig referenceTArg [R]366
7654157286 rs757450339 0.000byFreq missenseGArg [R]269
contig referenceAGln [Q]269
7654158287 rs1468282275 N.D. missenseTHis [H]369
contig referenceAGln [Q]369
7654161290 rs372215828 0.000byClusterbyFreq synonymousTPhe [F]370
contig referenceCPhe [F]370
7654164293 rs376750521 0.000byClusterbyFreq missenseGLys [K]371
contig referenceCAsn [N]371
7654165294 rs758682764 0.000 missenseTTrp [W]172
contig referenceCArg [R]172
7654166295 rs780761413 0.000byFreq missenseAGln [Q]272
contig referenceGArg [R]272
7654169298 rs1037909144 N.D. missenseTIle [I]273
contig referenceCThr [T]273
7654170299 rs1255492435 N.D. synonymousGThr [T]373
synonymousTThr [T]373
contig referenceCThr [T]373
7654173302 rs747456774 0.000 missenseCHis [H]374
synonymousAGln [Q]374
contig referenceGGln [Q]374
7654174303 rs899452039 N.D. missenseGVal [V]175
contig referenceCLeu [L]175
7654177306 rs542414922 0.000byFreqWith1000GenomeData0.0002 missenseASer [S]176
contig referenceGGly [G]176
7654179308 rs1440286590 N.D. synonymousTGly [G]376
contig referenceCGly [G]376
7654188317 rs201606347 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousASer [S]379
synonymousTSer [S]379
contig referenceCSer [S]379
7654189318 rs1377716852 N.D. missenseASer [S]180
contig referenceGGly [G]180
7654193322 rs142627831 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseCThr [T]281
contig referenceTIle [I]281
7654201330 rs1278056069 N.D. missenseAThr [T]184
contig referenceTSer [S]184
7654206335 rs772711589 0.000byFreq synonymousGThr [T]385
synonymousTThr [T]385
contig referenceCThr [T]385
7654209338 rs200669756 0.001byClusterbyFreqWith1000GenomeData0.0004 missenseGGln [Q]386
synonymousTHis [H]386
contig referenceCHis [H]386
7654212341 rs1272015664 N.D. synonymousCTyr [Y]387
contig referenceTTyr [Y]387
7654219348 rs774286082 0.000byFreq missenseGGly [G]190
contig referenceASer [S]190
7654221350 rs1312878695 N.D. synonymousTSer [S]390
contig referenceCSer [S]390
7654222351 rs759427489 0.000 missenseGAla [A]191
contig referenceAThr [T]191
7654224353 rs1017362714 N.D. synonymousCThr [T]391
contig referenceTThr [T]391
7654226355 rs1238448664 N.D. missenseTVal [V]292
contig referenceGGly [G]292
7654243372 rs764180280 0.000 missenseCLeu [L]198
contig referenceAIle [I]198
7654247376 rs753998361 0.000byClusterbyFreq missenseGArg [R]299
contig referenceALys [K]299
7654251380 rs761764774 0.000byFreq missenseAIle [I]3100
contig referenceGMet [M]3100
7654256385 rs765559894 0.000 missenseAGln [Q]2102
contig referenceGArg [R]2102
7654631390 rs1260870200 N.D. missenseGVal [V]1104
contig referenceAIle [I]1104
7654633392 rs370795225 0.000 synonymousTIle [I]3104
contig referenceCIle [I]3104
7654635394 rs574876886 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseCThr [T]2105
missenseGSer [S]2105
contig referenceAAsn [N]2105
7654637396 rs1320985931 N.D. missenseGVal [V]1106
contig referenceTPhe [F]1106
7654638397 rs954560605 N.D. missenseATyr [Y]2106
contig referenceTPhe [F]2106
7654639398 rs762007551 0.000 missenseALeu [L]3106
contig referenceCPhe [F]3106
7654641400 rs765168793 0.000 missenseGCys [C]2107
contig referenceATyr [Y]2107
7654644403 rs375777999 0.000byClusterbyFreq missenseGGly [G]2108
contig referenceCAla [A]2108
7654656415 rs1314700810 N.D. missenseGArg [R]2112
contig referenceAGln [Q]2112
7654664423 rs1302980065 N.D. missenseGAsp [D]1115
contig referenceAAsn [N]1115
7654670429 rs2227866 0.180byClusterbyFreq missenseGAla [A]1117
contig referenceAThr [T]1117
7654676435 rs1317502410 N.D. missenseTSer [S]1119
contig referenceGAla [A]1119
7654678437 rs763231074 0.000 synonymousCAla [A]3119
synonymousGAla [A]3119
contig referenceTAla [A]3119
7654680439 rs1229262766 N.D. missenseTVal [V]2120
contig referenceGGly [G]2120
7654681440 rs979600862 N.D. synonymousAGly [G]3120
contig referenceGGly [G]3120
7654682441 rs1278615160 N.D. missenseGGlu [E]1121
contig referenceALys [K]1121
7654684443 rs766875847 0.000 synonymousALys [K]3121
contig referenceGLys [K]3121
7655527444 rs1381953550 N.D. nonsenseT1122
contig referenceCArg [R]1122
7655528445 rs1477805724 N.D. missenseAGln [Q]2122
contig referenceGArg [R]2122
7655529446 rs1171842029 N.D. synonymousGArg [R]3122
contig referenceAArg [R]3122
7655530447 rs1276707149 N.D. missenseAAsn [N]1123
contig referenceGAsp [D]1123
7655539456 rs750102798 0.000 missenseAThr [T]1126
contig referenceGAla [A]1126
7655540457 rs375329674 0.000byClusterbyFreq missenseGGly [G]2126
missenseTVal [V]2126
contig referenceCAla [A]2126
7655542459 rs779739337 0.000 missenseALys [K]1127
contig referenceGGlu [E]1127
7655550467 rs751353863 0.000byFreq synonymousTLeu [L]3129
contig referenceCLeu [L]3129
7655551468 rs754801136 0.000byFreq missenseASer [S]1130
contig referenceGGly [G]1130
7655552469 rs1247152743 N.D. missenseAAsp [D]2130
contig referenceGGly [G]2130
7655555472 rs781337919 0.000byClusterbyFreq missenseGSer [S]2131
contig referenceAAsn [N]2131
7655557474 rs748042725 0.000 missenseCLeu [L]1132
contig referenceTPhe [F]1132
7655559476 rs771139830 0.000 synonymousTPhe [F]3132
contig referenceCPhe [F]3132
7655560477 rs779097579 0.000byFreq missenseAIle [I]1133
contig referenceGVal [V]1133
7655564481 rs745920008 0.000 missenseCThr [T]2134
contig referenceTMet [M]2134
7655568485 rs772222418 0.000 missenseALeu [L]3135
contig referenceCPhe [F]3135
7655571488 rs35919584 N.D. frame shiftCArg [R]3137
contig reference-Ala [A]3137
7655571488 rs574358752 0.000byCluster synonymousTPro [P]3136
contig referenceCPro [P]3136
7655572489 rs761002067 0.000 missenseAThr [T]1137
contig referenceGAla [A]1137
7655576493 rs769004384 0.000 missenseGSer [S]2138
contig referenceAAsn [N]2138
7655577494 rs117613045 0.039byClusterbyFreqWith1000GenomeData0.0074 synonymousTAsn [N]3138
contig referenceCAsn [N]3138
7655578495 rs762264628 0.000byFreq missenseASer [S]1139
contig referenceGGly [G]1139
7655580497 rs1342731036 N.D. synonymousAGly [G]3139
contig referenceCGly [G]3139
7655586503 rs764745784 0.000byFreq missenseGMet [M]3141
synonymousTIle [I]3141
contig referenceCIle [I]3141
7655587504 rs529731078 0.000With1000GenomeData0.0002 missenseAAsn [N]1142
missenseCHis [H]1142
contig referenceGAsp [D]1142
7655590507 rs1377260559 N.D. missenseTPhe [F]1143
contig referenceCLeu [L]1143
7655592509 rs762497585 0.000 synonymousTLeu [L]3143
contig referenceCLeu [L]3143
7655594511 rs150919258 0.000byClusterWith1000GenomeData0.0002 missenseCThr [T]2144
contig referenceTMet [M]2144
7655598515 rs1316471962 N.D. synonymousTTyr [Y]3145
contig referenceCTyr [Y]3145
7655601518 rs751214466 0.000 synonymousTPhe [F]3146
contig referenceCPhe [F]3146
7655606523 rs754744851 0.000 missenseGCys [C]2148
contig referenceATyr [Y]2148
7655608525 rs1488472156 N.D. missenseCHis [H]1149
contig referenceTTyr [Y]1149
7655611528 rs1186987545 N.D. missenseASer [S]1150
contig referenceGGly [G]1150
7655612529 rs1363370341 N.D. missenseAAsp [D]2150
contig referenceGGly [G]2150
7655613530 rs781070046 0.000 synonymousGGly [G]3150
contig referenceCGly [G]3150
7655619536 rs189871284 0.000byClusterWith1000GenomeData0.0002 synonymousALys [K]3152
contig referenceGLys [K]3152
7655622539 rs1324511807 N.D. synonymousTPhe [F]3153
contig referenceCPhe [F]3153
7655625542 rs1182156441 N.D. synonymousTHis [H]3154
contig referenceCHis [H]3154
7655732544 rs773609058 0.000 missenseCAla [A]2155
contig referenceTVal [V]2155
7655733545 rs1333459181 N.D. synonymousAVal [V]3155
contig referenceGVal [V]3155
7655743555 rs113495677 0.500 nonsenseT1159
contig referenceCGln [Q]1159
7655746558 rs1031593909 N.D. missenseTSer [S]1160
contig referenceCPro [P]1160
7655748560 rs749738030 0.000 synonymousTPro [P]3160
contig referenceCPro [P]3160
7655751563 rs781608500 0.000 frame shift-Trp [W]3162
contig referenceGVal [V]3162
7655752564 rs1374681727 N.D. missenseAMet [M]1162
contig referenceGVal [V]1162
7655764576 rs1050531 N.D. missenseCLeu [L]1166
contig referenceTPhe [F]1166
7655771583 rs1273044577 N.D. missenseTIle [I]2168
contig referenceAAsn [N]2168
7655777589 rs770378678 0.000byFreq missenseAAsn [N]2170
contig referenceCThr [T]2170
7655780592 rs773864970 0.000byFreq missenseGArg [R]2171
missenseTLeu [L]2171
contig referenceCPro [P]2171
7655783595 rs376154666 0.000byCluster missenseGSer [S]2172
contig referenceAAsn [N]2172
7655784596 rs775266720 0.000byFreq synonymousTAsn [N]3172
contig referenceCAsn [N]3172
7655785597 rs754719418 0.000 missenseAMet [M]1173
contig referenceGVal [V]1173
7655788600 rs1238248891 N.D. missenseALys [K]1174
contig referenceGGlu [E]1174
7655791603 rs535576969 0.000With1000GenomeData0.0002 missenseTLeu [L]1175
contig referenceGVal [V]1175
7655794606 rs1467672775 N.D. missenseGAsp [D]1176
contig referenceAAsn [N]1176
7655795607 rs763914736 0.000byFreq missenseGSer [S]2176
contig referenceAAsn [N]2176
7655796608 rs1046241748 N.D. synonymousCAsn [N]3176
contig referenceTAsn [N]3176
7655805617 rs753746251 0.000 synonymousCCys [C]3179
contig referenceTCys [C]3179
7655806618 rs757165975 0.000byFreq missenseTCys [C]1180
contig referenceCArg [R]1180
7655807619 rs765060572 0.000 missenseAHis [H]2180
missenseTLeu [L]2180
contig referenceGArg [R]2180
7655809621 rs142076161 0.000byClusterbyFreq missenseGVal [V]1181
contig referenceAIle [I]1181
7655813625 rs1464248878 N.D. missenseGSer [S]2182
contig referenceAAsn [N]2182
7655814626 rs755048231 0.000byFreq synonymousTAsn [N]3182
contig referenceCAsn [N]3182
7655815627 rs532742015 0.000byCluster missenseAThr [T]1183
contig referenceGAla [A]1183
7655816628 rs1440320602 N.D. missenseAAsp [D]2183
contig referenceCAla [A]2183
7655817629 rs780723133 0.000byFreq synonymousTAla [A]3183
contig referenceCAla [A]3183
7655818630 rs1321470106 N.D. missenseAThr [T]1184
missenseTSer [S]1184
contig referenceGAla [A]1184
7655823635 rs756476653 0.000 missenseGLys [K]3185
contig referenceCAsn [N]3185
7655824636 rs778160814 0.000 missenseGVal [V]1186
missenseTPhe [F]1186
contig referenceAIle [I]1186
7655826638 rs368978805 0.001byClusterbyFreqWith1000GenomeData0.0008 synonymousTIle [I]3186
contig referenceCIle [I]3186
7655827639 rs771519448 0.000byFreq missenseAThr [T]1187
contig referenceGAla [A]1187
7655828640 rs199505611 0.002byCluster missenseTVal [V]2187
contig referenceCAla [A]2187
7655830642 rs575661803 0.000byFreqWith1000GenomeData0.0002 missenseGAla [A]1188
contig referenceAThr [T]1188
7655831643 rs745426143 0.000 missenseALys [K]2188
missenseTIle [I]2188
contig referenceCThr [T]2188
7655832644 rs771650685 0.000 synonymousGThr [T]3188
contig referenceAThr [T]3188
7655834646 rs1265802301 N.D. missenseGGly [G]2189
contig referenceAAsp [D]2189
7655835647 rs775285199 0.000byFreq synonymousTAsp [D]3189
contig referenceCAsp [D]3189
7655836648 rs373212937 0.000byClusterbyFreq missenseCHis [H]1190
contig referenceGAsp [D]1190
7655842654 rs1262914096 N.D. nonsenseT1192
synonymousAArg [R]1192
contig referenceCArg [R]1192
7655843655 rs200249927 0.000byClusterbyFreq missenseAGln [Q]2192
contig referenceGArg [R]2192
7655847659 rs1175723600 N.D. missenseAGlu [E]3193
contig referenceCAsp [D]3193
7655849661 rs1004651883 N.D. missenseTMet [M]2194
contig referenceALys [K]2194
7655850662 rs1196084771 N.D. synonymousALys [K]3194
contig referenceGLys [K]3194
7655853665 rs370052173 0.000byClusterbyFreq synonymousTPhe [F]3195
contig referenceCPhe [F]3195
7655854666 rs1250404262 N.D. missenseTSer [S]1196
contig referenceGAla [A]1196
7655856668 rs377624994 0.000byCluster synonymousTAla [A]3196
contig referenceCAla [A]3196
7655857669 rs1161553196 N.D. missenseASer [S]1197
contig referenceGGly [G]1197
7655860672 rs921830582 N.D. missenseTCys [C]1198
contig referenceCArg [R]1198
7655861673 rs765289769 0.000byFreq missenseAHis [H]2198
contig referenceGArg [R]2198
7655862674 rs73979527 0.004byClusterbyFreqWith1000GenomeData0.0062 synonymousTArg [R]3198
synonymousTArg [R]3198
contig referenceCArg [R]3198
contig referenceCArg [R]3198
7655863675 rs1028561873 N.D. missenseAMet [M]1199
contig referenceGVal [V]1199
7655875687 rs759629798 0.000 missenseTPhe [F]1203
contig referenceCLeu [L]1203
7655878690 rs200828135 0.000byClusterbyFreq missenseGGly [G]1204
missenseTCys [C]1204
contig referenceCArg [R]1204
7655879691 rs756280593 0.000byFreq missenseAHis [H]2204
missenseTLeu [L]2204
contig referenceGArg [R]2204
7655880692 rs138720789 0.000byCluster synonymousTArg [R]3204
contig referenceCArg [R]3204
7655885697 rs375236929 0.000byClusterbyFreq missenseGSer [S]2206
missenseTIle [I]2206
contig referenceAAsn [N]2206
7655891703 rs1266682207 N.D. missenseTIle [I]2208
contig referenceCThr [T]2208
76564471259 rs1286324994 N.D. -
76568331645 rs1456888711 N.D. -
76568361648 rs1160780659 N.D. -
76572962108 rs1362297277 N.D. -
76574892301 rs1180557491 N.D. -