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SNP linked to Gene (geneID:80762) 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): 1
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_030571.3plus strandNP_085048.1forwardNT_029289.12GRCh38.p7<- currently shown

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p7NT_029289.12NM_030571.3NP_085048.1forwardplus strand184, coding

Region Chr.
dbSNP rs#
cluster id
Validation MAF Allele
3D Linkout Function dbSNP
Amino acid
142108976218 rs1399478692 N.D. -25
142108980222 rs1044096 N.D. synonymousAAla [A]32
synonymousTAla [A]32
contig referenceGAla [A]32
142108984226 rs1308611930 N.D. missenseAThr [T]14
contig referenceGAla [A]14
142108986228 rs778333770 0.001byFreq synonymousAAla [A]34
synonymousTAla [A]34
contig referenceGAla [A]34
142108987229 rs112931038 0.001byClusterbyFreqWith1000GenomeData0.0152 missenseGVal [V]15
contig referenceTLeu [L]15
142108990232 rs900287684 N.D. missenseCPro [P]16
contig referenceGAla [A]16
142108991233 rs757966466 0.000byFreq missenseTVal [V]26
contig referenceCAla [A]26
142108992234 rs1216639160 N.D. synonymousAAla [A]36
contig referenceGAla [A]36
142108994236 rs1277315596 N.D. missenseTVal [V]27
contig referenceCAla [A]27
142108995237 rs1324251185 N.D. synonymousAAla [A]37
synonymousTAla [A]37
contig referenceGAla [A]37
142108997239 rs763990237 0.000 -29
142109000242 rs779545409 0.000byFreq missenseTVal [V]29
contig referenceCAla [A]29
142109004246 rs1367961618 N.D. synonymousTAla [A]310
contig referenceGAla [A]310
142109007249 rs746728853 0.000 synonymousTVal [V]311
contig referenceCVal [V]311
142109012254 rs917699039 N.D. missenseTLeu [L]213
contig referenceCPro [P]213
142109019261 rs1482979680 N.D. synonymousTCys [C]315
contig referenceCCys [C]315
142109020262 rs1364747253 N.D. missenseASer [S]116
contig referenceGGly [G]116
142109025267 rs1205722232 N.D. missenseGArg [R]317
contig referenceCSer [S]317
142109026268 rs1161800901 N.D. missenseGGly [G]118
synonymousAArg [R]118
contig referenceCArg [R]118
142109030272 rs1407577139 N.D. missenseGCys [C]219
contig referenceATyr [Y]219
142109034276 rs566265381 0.005byClusterbyFreqWith1000GenomeData0.0030 synonymousAGln [Q]320
contig referenceGGln [Q]320
142109035277 rs1490867039 N.D. missenseALys [K]121
contig referenceCGln [Q]121
142131810282 rs1006910888 N.D. synonymousALeu [L]322
contig referenceGLeu [L]322
142131817289 rs1363808327 N.D. -127
142131818290 rs151294679 0.000byClusterbyFreq missenseTVal [V]225
contig referenceAGlu [E]225
142131822294 rs765150163 0.000byFreq synonymousGGlu [E]326
contig referenceAGlu [E]326
142131825297 rs1254288496 N.D. synonymousAGlu [E]327
contig referenceGGlu [E]327
142131827299 rs1179630659 N.D. missenseTPhe [F]228
contig referenceCSer [S]228
142131831303 rs750396969 0.000 synonymousGGly [G]329
contig referenceAGly [G]329
142131833305 rs867733587 N.D.byCluster frame shiftGThr [T]231
contig reference-Pro [P]231
142131834306 rs1410093134 N.D. frame shiftGAla [A]331
contig reference-Pro [P]331
142131840312 rs1158778861 N.D. synonymousGGlu [E]332
contig referenceAGlu [E]332
142131843315 rs140246329 0.002byClusterbyFreqWith1000GenomeData0.0038 synonymousAGln [Q]333
contig referenceGGln [Q]333
142131846318 rs11547547 N.D. synonymousCAla [A]334
contig referenceTAla [A]334
142131847319 rs1231393348 N.D. missenseAThr [T]135
contig referenceGAla [A]135
142131848320 rs375131921 0.000byCluster missenseTVal [V]235
contig referenceCAla [A]235
142131856328 rs1157700023 N.D. missenseTSer [S]138
contig referenceGAla [A]138
142131857329 rs1028046957 N.D. missenseTVal [V]238
contig referenceCAla [A]238
142131859331 rs199586715 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTSer [S]139
contig referenceCPro [P]139
142131867339 rs751135239 0.000 synonymousAPro [P]341
contig referenceTPro [P]341
142131870342 rs775725667 0.000byFreq synonymousTTyr [Y]342
contig referenceCTyr [Y]342
142131871343 rs781355716 0.000 missenseGGly [G]143
contig referenceASer [S]143
142131874346 rs540592470 0.000With1000GenomeData0.0002 missenseGGly [G]144
contig referenceASer [S]144
142131878350 rs751447947 0.000byFreq frame shift-Leu [L]246
contig referenceTSer [S]246
142131878350 rs998717076 N.D. missenseCThr [T]245
contig referenceTIle [I]245
142131883355 rs760952836 0.000byFreq missenseTSer [S]147
contig referenceGAla [A]147
142131884356 rs778394569 0.000 missenseTVal [V]247
contig referenceCAla [A]247
142131888360 rs749835120 0.000 missenseCAsp [D]348
contig referenceGGlu [E]348
142131889361 rs968484064 N.D. missenseCArg [R]149
contig referenceASer [S]149
142131890362 rs1260644827 N.D. missenseAAsn [N]249
contig referenceGSer [S]249
142131891363 rs771094858 0.000 synonymousTSer [S]349
contig referenceCSer [S]349
142131892364 rs774492395 0.000byFreq missenseAThr [T]150
contig referenceGAla [A]150
142131893365 rs1265205543 N.D. missenseGGly [G]250
contig referenceCAla [A]250
142131894366 rs144224594 0.002byClusterbyFreqWith1000GenomeData0.0004 synonymousCAla [A]350
contig referenceAAla [A]350
142132216372 rs148437787 0.001byClusterbyFreqWith1000GenomeData0.0014 synonymousCTyr [Y]352
contig referenceTTyr [Y]352
142132217373 rs11547550 N.D. missenseCLeu [L]153
contig referenceTPhe [F]153
142132224380 rs778312948 0.000 missenseGCys [C]255
contig referenceATyr [Y]255
142132231387 rs749743492 0.000 missenseAGlu [E]357
contig referenceTAsp [D]357
142132234390 rs11547552 N.D. synonymousAGlu [E]358
contig referenceGGlu [E]358
142132235391 rs887171075 N.D. missenseCPro [P]159
contig referenceTSer [S]159
142132237393 rs1401349665 N.D. synonymousCSer [S]359
contig referenceTSer [S]359
142132240396 rs757794246 0.000 synonymousTGly [G]360
contig referenceGGly [G]360
142132252408 rs779344291 0.000 synonymousTPro [P]364
contig referenceCPro [P]364
142132255411 rs377051346 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousGPro [P]365
contig referenceAPro [P]365
142132257413 rs772080983 0.000 missenseTPhe [F]266
contig referenceCSer [S]266
142132263419 rs372736562 0.000byCluster missenseGSer [S]268
contig referenceAAsn [N]268
142132264420 rs1182380605 N.D. synonymousCAsn [N]368
contig referenceTAsn [N]368
142132270426 rs780223869 0.000byFreq synonymousCAla [A]370
contig referenceTAla [A]370
142132274430 rs1024661771 N.D. missenseGAla [A]172
missenseTSer [S]172
contig referenceAThr [T]172
142132276432 rs142910500 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousGThr [T]372
contig referenceAThr [T]372
142132280436 rs1334981401 N.D. missenseTSer [S]174
contig referenceCPro [P]174
142132283439 rs1361003625 N.D. missenseCArg [R]175
contig referenceASer [S]175
142132286442 rs1445853265 N.D. frame shiftA176
contig reference-Tyr [Y]176
142132288444 rs141536913 0.000byClusterbyFreq synonymousCTyr [Y]376
contig referenceTTyr [Y]376
142132296452 rs772998463 0.000byFreq missenseGGly [G]279
missenseTVal [V]279
contig referenceCAla [A]279
142132297453 rs183578770 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousAAla [A]379
synonymousCAla [A]379
contig referenceGAla [A]379
142132300456 rs1276674875 N.D. missenseCAsp [D]380
contig referenceGGlu [E]380
142132303459 rs1317878854 N.D. synonymousAArg [R]381
contig referenceGArg [R]381
142132304460 rs1220344829 N.D. missenseGAla [A]182
contig referenceAThr [T]182
142132306462 rs1201815353 N.D. synonymousAThr [T]382
contig referenceCThr [T]382
142132308464 rs1281281266 N.D. missenseGArg [R]283
contig referenceALys [K]283
142132310466 rs759055850 0.000 missenseAThr [T]184
contig referenceGAla [A]184
142132322478 rs145213921 0.000byClusterbyFreq missenseGVal [V]188
contig referenceAIle [I]188
142132324480 rs73287051 0.002byClusterbyFreqWith1000GenomeData0.0026 synonymousAIle [I]388
contig referenceCIle [I]388
142135730499 rs372933565 0.000byClusterbyFreq missenseAAsn [N]195
missenseTTyr [Y]195
contig referenceGAsp [D]195
142135731500 rs1446229864 N.D. missenseGGly [G]295
contig referenceAAsp [D]295
142135735504 rs1199223472 N.D. missenseCAsp [D]396
contig referenceGGlu [E]396
142135736505 rs1248452713 N.D. missenseTTyr [Y]197
contig referenceGAsp [D]197
142135737506 rs749105148 0.000 missenseGGly [G]297
contig referenceAAsp [D]297
142135742511 rs1172106707 N.D. missenseAMet [M]199
contig referenceGVal [V]199
142135745514 rs1035726195 N.D. missenseASer [S]1100
contig referenceGGly [G]1100
142135748517 rs770674685 0.000 missenseTTrp [W]1101
contig referenceCArg [R]1101
142135749518 rs774325360 0.000byFreq missenseAGln [Q]2101
contig referenceGArg [R]2101
142135752521 rs759422482 0.000 missenseGGly [G]2102
contig referenceAAsp [D]2102
142135758527 rs1448938486 N.D. missenseCSer [S]2104
contig referenceTPhe [F]2104
142135759528 rs200859133 N.D.With1000GenomeData synonymousCPhe [F]3104
contig referenceTPhe [F]3104
142135761530 rs376165756 0.000byCluster missenseGGly [G]2105
contig referenceAAsp [D]2105
142135764533 rs1332174460 N.D. missenseGGly [G]2106
contig referenceAAsp [D]2106
142135765534 rs1387771323 N.D. synonymousCAsp [D]3106
contig referenceTAsp [D]3106
142135766535 rs1325922810 N.D. missenseTSer [S]1107
contig referenceGAla [A]1107
142135767536 rs574308964 N.D.byCluster missenseTVal [V]2107
contig referenceCAla [A]2107
142135772541 rs11547548 N.D. missenseALys [K]1109
contig referenceCGln [Q]1109
142135777546 rs775153755 0.000 synonymousCLeu [L]3110
contig referenceGLeu [L]3110
142135780549 rs1214302486 N.D. synonymousAArg [R]3111
contig referenceGArg [R]3111
142135795564 rs760319323 0.000 synonymousAGly [G]3116
contig referenceGGly [G]3116
142135801570 rs556266228 0.000byClusterbyFreq synonymousTPhe [F]3118
contig referenceCPhe [F]3118
142135802571 rs753581749 0.000 missenseGVal [V]1119
contig referenceAMet [M]1119
142135807576 rs1377027831 N.D. missenseCPhe [F]3120
contig referenceALeu [L]3120
142135809578 rs762213329 0.000 missenseTIle [I]2121
contig referenceCThr [T]2121
142135814583 rs1370895958 N.D. missenseCLeu [L]1123
contig referenceTPhe [F]1123
142135817586 rs1241612582 N.D. missenseGVal [V]1124
contig referenceAMet [M]1124
142137740593 rs1456469574 N.D. missenseGCys [C]2126
contig referenceTPhe [F]2126
142137744597 rs1257529925 N.D. synonymousTLeu [L]3127
contig referenceCLeu [L]3127
142137752605 rs755263226 0.000 frame shift-2130
contig referenceGTrp [W]2130
142137753606 rs775634740 0.000 missenseCCys [C]3130
contig referenceGTrp [W]3130
142137759612 rs41290615 N.D. synonymousCGly [G]3132
contig referenceGGly [G]3132
142137765618 rs1459022384 N.D. synonymousTPhe [F]3134
contig referenceCPhe [F]3134
142137770623 rs374512925 0.000byCluster missenseGCys [C]2136
contig referenceCSer [S]2136
142137771624 rs377512386 0.000byClusterWith1000GenomeData0.0002 synonymousASer [S]3136
contig referenceTSer [S]3136
142137775628 rs1424435953 N.D. missenseGGly [G]1138
contig referenceTCys [C]1138
142137781634 rs1189909547 N.D. missenseGAla [A]1140
contig referenceAThr [T]1140
142137783636 rs1291209733 N.D. synonymousAThr [T]3140
contig referenceCThr [T]3140
142137789642 rs200462618 0.002byCluster synonymousGSer [S]3142
contig referenceASer [S]3142
142137792645 rs1317569405 N.D. synonymousCAla [A]3143
contig referenceTAla [A]3143
142137795648 rs776295914 0.000 synonymousGAla [A]3144
contig referenceAAla [A]3144
142137800653 rs887977516 N.D. missenseALys [K]2146
contig referenceGArg [R]2146
142137803656 rs1373584258 N.D. missenseGCys [C]2147
contig referenceATyr [Y]2147
142137804657 rs1280972978 N.D. synonymousCTyr [Y]3147
contig referenceTTyr [Y]3147
142137810663 rs761400676 0.000 synonymousTAla [A]3149
contig referenceCAla [A]3149
142137819672 rs1439605638 N.D. synonymousTGly [G]3152
contig referenceAGly [G]3152
142137832685 rs1375448185 N.D. synonymousTLeu [L]1157
contig referenceCLeu [L]1157
142137834687 rs1403158927 N.D. synonymousGLeu [L]3157
contig referenceALeu [L]3157
142137835688 rs765574098 0.000 missenseGVal [V]1158
contig referenceAIle [I]1158
142137840693 rs773466226 0.000 synonymousGLys [K]3159
contig referenceALys [K]3159
142137846699 rs1462360313 N.D. synonymousTIle [I]3161
contig referenceCIle [I]3161
142137858711 rs1395172448 N.D. synonymousAArg [R]3165
contig referenceGArg [R]3165
142140568717 rs1325766395 N.D. synonymousTSer [S]3167
contig referenceCSer [S]3167
142140573722 rs747780964 0.000 missenseGCys [C]2169
contig referenceATyr [Y]2169
142140576725 rs1312697697 N.D. missenseATyr [Y]2170
contig referenceTPhe [F]2170
142140577726 rs149477556 0.002byClusterbyFreqWith1000GenomeData0.0014 synonymousTPhe [F]3170
contig referenceCPhe [F]3170
142140578727 rs1366100654 N.D. missenseAThr [T]1171
contig referenceCPro [P]1171
142140580729 rs1254308578 N.D. synonymousCPro [P]3171
contig referenceTPro [P]3171
142140581730 rs1347481471 N.D. missenseCArg [R]1172
contig referenceGGly [G]1172
142140584733 rs1217649053 N.D. missenseAAsn [N]1173
contig referenceTTyr [Y]1173
142140592741 rs146378852 0.006byClusterbyFreqWith1000GenomeData0.0096 synonymousCAsp [D]3175
contig referenceTAsp [D]3175
142140604753 rs1418817641 N.D. nonsenseA3179
contig referenceGTrp [W]3179
142140607756 rs763273653 0.000 synonymousGLeu [L]3180
synonymousTLeu [L]3180
contig referenceCLeu [L]3180
142140623772 rs1186287389 N.D. missenseAIle [I]1186
contig referenceGVal [V]1186
142140628777 rs766779149 0.000 missenseCPhe [F]3187
contig referenceALeu [L]3187
142144572780 rs1288507188 N.D. synonymousTGly [G]3188
contig referenceCGly [G]3188
142144578786 rs1346839490 N.D. synonymousGLeu [L]3190
contig referenceCLeu [L]3190
142144579787 rs1351765355 N.D. synonymousTLeu [L]1191
contig referenceCLeu [L]1191
142144585793 rs751473019 0.000 missenseGVal [V]1193
contig referenceCLeu [L]1193
142144587795 rs754983410 0.000 synonymousGLeu [L]3193
synonymousTLeu [L]3193
contig referenceCLeu [L]3193
142144592800 rs781251520 0.000 missenseAGlu [E]2195
contig referenceGGly [G]2195
142144597805 rs747610907 0.000 missenseGVal [V]1197
contig referenceAIle [I]1197
142144598806 rs769386774 0.000 missenseCThr [T]2197
contig referenceTIle [I]2197
142144601809 rs777268951 0.000 missenseTIle [I]2198
contig referenceAAsn [N]2198
142144604812 rs748963546 0.000 missenseTPhe [F]2199
contig referenceATyr [Y]2199
142144605813 rs771246690 0.000 synonymousCTyr [Y]3199
contig referenceTTyr [Y]3199
142144607815 rs1381843700 N.D. missenseTVal [V]2200
contig referenceCAla [A]2200
142144608816 rs1016467398 N.D. synonymousGAla [A]3200
contig referenceAAla [A]3200
142144609817 rs1416917285 N.D. missenseGGlu [E]1201
contig referenceALys [K]1201
142144615823 rs1395497845 N.D. missenseGGly [G]1203
missenseTTrp [W]1203
contig referenceCArg [R]1203
142144616824 rs774710593 0.000byFreq missenseAGln [Q]2203
missenseTLeu [L]2203
contig referenceGArg [R]2203
142144623831 rs1350286442 N.D. missenseAIle [I]3205
contig referenceGMet [M]3205
142144632840 rs1459197534 N.D. synonymousCThr [T]3208
contig referenceTThr [T]3208
142144640848 rs1323810470 N.D. missenseGSer [S]2211
contig referenceAAsn [N]2211
142144641849 rs759950322 0.000byFreq synonymousCAsn [N]3211
contig referenceTAsn [N]3211
142144644852 rs1447686297 N.D. synonymousTLeu [L]3212
contig referenceCLeu [L]3212
142144651859 rs772452771 0.000 missenseCPro [P]1215
missenseGAla [A]1215
contig referenceAThr [T]1215
142144652860 rs1286010106 N.D. missenseGSer [S]2215
contig referenceCThr [T]2215
142144653861 rs201452768 0.002byCluster synonymousGThr [T]3215
synonymousTThr [T]3215
contig referenceCThr [T]3215
1421519891143 rs1192945049 N.D. -
1421524651619 rs1327659585 N.D. -
1421524841638 rs1361532846 N.D. -
1421524851639 rs201854303 0.010byClusterbyFreqWith1000GenomeData0.0050 -
1421524851639 rs1439618826 N.D. -
1421532352389 rs1435571865 N.D. -
1421532442398 rs1203199837 N.D. -
1421540463200 rs1242974296 N.D. -
1421543023456 rs1318942969 N.D. -
1421544373591 rs1227044570 N.D. -