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SNP linked to Gene (geneID:9217) 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_004738.4plus strandNP_004729.1forwardNT_011362.11GRCh38.p7<- currently shown
NM_001195677.1plus strandNP_001182606.1forwardNT_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
GRCh38.p7NT_011362.11NM_004738.4NP_004729.1forwardplus strand200, 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
58389461343 rs1306638662 N.D. missenseCThr [T]21
contig referenceTMet [M]21
58389465347 rs747504079 0.000 synonymousAAla [A]32
contig referenceGAla [A]32
58389466348 rs1410987061 N.D. missenseGGlu [E]13
contig referenceALys [K]13
58389469351 rs768972128 0.000 missenseAMet [M]14
contig referenceGVal [V]14
58389471353 rs897250387 N.D. synonymousAVal [V]34
contig referenceGVal [V]34
58389472354 rs777026649 0.000 missenseALys [K]15
contig referenceGGlu [E]15
58389473355 rs748371538 0.000 missenseGGly [G]25
contig referenceAGlu [E]25
58389475357 rs770013348 0.000 nonsenseT16
contig referenceCGln [Q]16
58389476358 rs773426656 0.000 missenseCPro [P]26
contig referenceAGln [Q]26
58389480362 rs763066492 0.000 synonymousGVal [V]37
synonymousTVal [V]37
contig referenceCVal [V]37
58389481363 rs1482571088 N.D. synonymousTLeu [L]18
contig referenceCLeu [L]18
58389484366 rs766551604 0.000byCluster missenseGGly [G]19
contig referenceASer [S]19
58389492374 rs775634499 0.000 synonymousAGlu [E]311
contig referenceGGlu [E]311
58389493375 rs1431840351 N.D. missenseTSer [S]112
contig referenceCPro [P]112
58389497379 rs760656837 0.000 missenseGArg [R]213
contig referenceAGln [Q]213
58389498380 rs1369098871 N.D. synonymousAGln [Q]313
contig referenceGGln [Q]313
58389502384 rs886340297 N.D. missenseALys [K]115
contig referenceGGlu [E]115
58389508390 rs763843795 0.000byFreq missenseGGlu [E]117
contig referenceALys [K]117
58389509391 rs1370343198 N.D. missenseGArg [R]217
contig referenceALys [K]217
58389515397 rs1430759621 N.D. missenseTLeu [L]219
contig referenceGArg [R]219
58389516398 rs1300446112 N.D. synonymousCArg [R]319
contig referenceAArg [R]319
58418215404 rs1211879173 N.D. synonymousTPro [P]321
contig referenceCPro [P]321
58418218407 rs1465571636 N.D. synonymousTPhe [F]322
contig referenceCPhe [F]322
58418219408 rs1188496875 N.D. missenseGAla [A]123
contig referenceAThr [T]123
58418220409 rs113533827 0.500 YesmissenseTIle [I]223
contig referenceCThr [T]223
58418221410 rs750114578 0.000byFreq synonymousTThr [T]323
contig referenceCThr [T]323
58418222411 rs758038085 0.000byFreq missenseAAsn [N]124
contig referenceGAsp [D]124
58418227416 rs1218199617 N.D. synonymousAVal [V]325
contig referenceTVal [V]325
58418229418 rs1306018183 N.D. missenseCAla [A]226
contig referenceTVal [V]226
58418238427 rs1293144080 N.D. missenseCThr [T]229
contig referenceAAsn [N]229
58418245434 rs989909629 N.D. missenseTAsn [N]331
contig referenceGLys [K]331
58418251440 rs1432018354 N.D. synonymousTGly [G]333
contig referenceCGly [G]333
58418255444 rs1325217602 N.D. missenseTSer [S]135
contig referenceCPro [P]135
58418256445 rs1456089445 N.D. missenseTLeu [L]235
contig referenceCPro [P]235
58418257446 rs141383583 0.000byClusterbyFreqWith1000GenomeData0.0008 YessynonymousAPro [P]335
contig referenceGPro [P]335
58418261450 rs376628127 0.000byCluster YesmissenseCHis [H]137
contig referenceGAsp [D]137
58418262451 rs755474083 0.000 missenseCAla [A]237
contig referenceAAsp [D]237
58418263452 rs781691837 0.000 missenseAGlu [E]337
contig referenceCAsp [D]337
58418265454 rs745902026 0.000 frame shift-Val [V]239
contig referenceGAAATAsn [N]239
58418265454 rs995683399 N.D. missenseAGln [Q]238
contig referenceGArg [R]238
58418269458 rs748583918 0.000 missenseALys [K]339
synonymousCAsn [N]339
contig referenceTAsn [N]339
58418270459 rs1325638209 N.D. missenseAMet [M]140
contig referenceGVal [V]140
58418271460 rs1461137391 N.D. missenseCAla [A]240
contig referenceTVal [V]240
58418277466 rs1157908324 N.D. missenseCSer [S]242
contig referenceTPhe [F]242
58418278467 rs1226496628 N.D. synonymousCPhe [F]342
contig referenceTPhe [F]342
58418295484 rs756543452 0.000byFreq missenseTVal [V]248
contig referenceCAla [A]248
58418297486 rs1371025436 N.D. missenseTSer [S]149
contig referenceCPro [P]149
58418301490 rs778280109 0.000byFreq missenseAHis [H]250
contig referenceGArg [R]250
58418308497 rs749580878 0.000byFreq synonymousTTyr [Y]352
contig referenceCTyr [Y]352
58418310499 rs779138687 0.000 missenseTPhe [F]253
contig referenceGCys [C]253
58418315504 rs150761013 0.000byCluster YessynonymousCArg [R]155
contig referenceAArg [R]155
58418326515 rs139149560 0.000byClusterbyFreqWith1000GenomeData0.0008 YessynonymousTSer [S]358
contig referenceCSer [S]358
58418335524 rs776678595 0.000 synonymousTIle [I]361
contig referenceCIle [I]361
58418336525 rs574481743 0.000byFreqWith1000GenomeData0.0002 missenseAAsn [N]162
contig referenceGAsp [D]162
58418337526 rs1410589275 N.D. missenseTVal [V]262
contig referenceAAsp [D]262
58418344533 rs1365638117 N.D. synonymousAGly [G]364
contig referenceGGly [G]364
58418345534 rs1400743434 N.D. missenseAThr [T]165
contig referenceGAla [A]165
58418349538 rs769640841 0.000 nonsenseG266
contig referenceCSer [S]266
58418350539 rs976091097 N.D. synonymousGSer [S]366
contig referenceASer [S]366
58418350539 rs1160867744 N.D. frame shift-Met [M]367
contig referenceAATTIle [I]367
58418351540 rs772975721 0.000 missenseGVal [V]167
contig referenceAIle [I]167
58418358547 rs1303604452 N.D. missenseGGly [G]269
contig referenceTVal [V]269
58418361550 rs762603323 0.000 missenseGCys [C]270
contig referenceCSer [S]270
58418362551 rs1407931167 N.D. synonymousCSer [S]370
contig referenceTSer [S]370
58434604555 rs1378516349 N.D. missenseTLeu [L]172
contig referenceAMet [M]172
58434609560 rs144027663 0.000byCluster YessynonymousGLeu [L]373
contig referenceALeu [L]373
58434612563 rs925692617 N.D. synonymousAGln [Q]374
contig referenceGGln [Q]374
58434618569 rs548727806 0.000byFreqWith1000GenomeData0.0002 missenseGLeu [L]376
synonymousTPhe [F]376
contig referenceCPhe [F]376
58434619570 rs200276908 0.000byCluster YesmissenseAAsn [N]177
contig referenceGAsp [D]177
58434623574 rs1475473253 N.D. missenseGCys [C]278
contig referenceATyr [Y]278
58434624575 rs1256194666 N.D. synonymousCTyr [Y]378
contig referenceTTyr [Y]378
58434637588 rs1204954764 N.D. missenseGGlu [E]183
contig referenceALys [K]183
58434648599 rs759109378 0.000 synonymousTHis [H]386
contig referenceCHis [H]386
58434651602 rs1440120095 N.D. synonymousALys [K]387
contig referenceGLys [K]387
58434655606 rs1244452129 N.D. missenseTLeu [L]189
contig referenceAMet [M]189
58434658609 rs1208617952 N.D. missenseAIle [I]190
contig referenceGVal [V]190
58434663614 rs1235253799 N.D. synonymousAGln [Q]391
contig referenceGGln [Q]391
58434667618 rs1443403362 N.D. missenseGVal [V]193
contig referenceAMet [M]193
58434668619 rs570273544 0.000byFreqWith1000GenomeData0.0006 missenseCThr [T]293
contig referenceTMet [M]293
58434673624 rs1386657676 N.D. missenseTSer [S]195
contig referenceGAla [A]195
58434674625 rs371392481 0.000byCluster YesmissenseTVal [V]295
contig referenceCAla [A]295
58434678629 rs1447264007 N.D. synonymousTPro [P]396
contig referenceAPro [P]396
58434679630 rs752091117 0.000byFreq missenseGAla [A]197
contig referenceAThr [T]197
58434686637 rs761270333 0.000 missenseAAsn [N]299
contig referenceCThr [T]299
58434691642 rs764656858 0.000 missenseCHis [H]1101
missenseTTyr [Y]1101
contig referenceGAsp [D]1101
58434694645 rs1332045270 N.D. missenseGVal [V]1102
contig referenceAMet [M]1102
58434695646 rs754277338 0.000 missenseCThr [T]2102
contig referenceTMet [M]2102
58434699650 rs1358658543 N.D. synonymousGGlu [E]3103
contig referenceAGlu [E]3103
58434700651 rs1295445556 N.D. missenseAThr [T]1104
contig referenceGAla [A]1104
58434703654 rs892229610 N.D. missenseAIle [I]1105
contig referenceGVal [V]1105
58434705656 rs757744162 0.000byCluster synonymousGVal [V]3105
contig referenceAVal [V]3105
58438947659 rs1381873650 N.D. nonsenseA3106
contig referenceGTrp [W]3106
58438961673 rs777316448 0.000byFreq missenseTLeu [L]2111
contig referenceCPro [P]2111
58438962674 rs762402998 0.000byFreq synonymousAPro [P]3111
contig referenceGPro [P]3111
58438964676 rs562837579 0.000With1000GenomeData0.0002 missenseCAla [A]2112
contig referenceAGlu [E]2112
58438968680 rs750693191 0.000 missenseGGlu [E]3113
contig referenceCAsp [D]3113
58438969681 rs377121820 0.000byClusterbyFreq YesmissenseGVal [V]1114
contig referenceCLeu [L]1114
58438971683 rs766468222 0.000 synonymousALeu [L]3114
contig referenceTLeu [L]3114
58438977689 rs751762415 0.000 synonymousCAsp [D]3116
contig referenceTAsp [D]3116
58438980692 rs1326390893 N.D. synonymousGSer [S]3117
contig referenceASer [S]3117
58438987699 rs939423518 N.D. missenseGGly [G]1120
contig referenceAArg [R]1120
58438989701 rs1308944501 N.D. synonymousGArg [R]3120
contig referenceAArg [R]3120
58438993705 rs1315548059 N.D. missenseAMet [M]1122
contig referenceGVal [V]1122
58439002714 rs755094802 0.000byFreq missenseAMet [M]1125
contig referenceTLeu [L]1125
58439007719 rs981564507 N.D. synonymousGPro [P]3126
contig referenceAPro [P]3126
58439013725 rs781247972 0.000 synonymousAGlu [E]3128
contig referenceGGlu [E]3128
58439015727 rs1248787151 N.D. missenseGSer [S]2129
contig referenceAAsn [N]2129
58439016728 rs1298716622 N.D. synonymousCAsn [N]3129
contig referenceTAsn [N]3129
58439019731 rs146459055 0.003byClusterbyFreqWith1000GenomeData0.0010 missenseGGlu [E]3130
contig referenceTAsp [D]3130
58439025737 rs757130440 0.000 synonymousGPro [P]3132
contig referenceAPro [P]3132
58440910741 rs778667587 0.000byFreq missenseAAsn [N]1134
contig referenceGAsp [D]1134
58440921752 rs1306743589 N.D. missenseGMet [M]3137
contig referenceAIle [I]3137
58440930761 rs1396461803 N.D. synonymousAIle [I]3140
contig referenceTIle [I]3140
58440931762 rs1392475929 N.D. missenseGVal [V]1141
contig referenceAIle [I]1141
58440941772 rs367896794 0.000byClusterbyFreq missenseTIle [I]2144
contig referenceCThr [T]2144
58440944775 rs925000894 N.D. missenseTVal [V]2145
contig referenceCAla [A]2145
58440947778 rs1336955800 N.D. missenseTLeu [L]2146
contig referenceCSer [S]2146
58440948779 rs936346375 N.D. synonymousGSer [S]3146
contig referenceASer [S]3146
58440952783 rs1243321032 N.D. missenseCPro [P]1148
contig referenceAThr [T]1148
58440965796 rs372101774 0.000byCluster missenseCThr [T]2152
contig referenceTIle [I]2152
58440967798 rs1362788253 N.D. missenseAMet [M]1153
missenseTLeu [L]1153
contig referenceGVal [V]1153
58440970801 rs1439697961 N.D. frame shift-Glu [E]1155
contig reference(8bp)Lys [K]1155
58440975806 rs779988555 0.000byFreq synonymousALys [K]3155
contig referenceGLys [K]3155
58440979810 rs1359912035 N.D. missenseGVal [V]1157
contig referenceCLeu [L]1157
58440982813 rs773800478 N.D.byCluster missenseCArg [R]1158
contig referenceASer [S]1158
58440984815 rs566283411 0.003byClusterbyFreqWith1000GenomeData0.0010 -3160
58440986817 rs746716055 0.000 missenseTPhe [F]2159
contig referenceCSer [S]2159
58440995826 rs768362290 0.000 missenseTVal [V]2162
contig referenceAAsp [D]2162
58440996827 rs780851496 0.000byFreq missenseAGlu [E]3162
contig referenceTAsp [D]3162
58440997828 rs892724485 N.D. missenseAAsn [N]1163
contig referenceGAsp [D]1163
58441001832 rs747617543 0.000byFreq missenseTIle [I]2164
contig referenceCThr [T]2164
58441002833 rs139884809 0.000byClusterbyFreq synonymousTThr [T]3164
contig referenceCThr [T]3164
58441003834 rs772254840 0.000 missenseALys [K]1165
contig referenceGGlu [E]1165
58441006837 rs538630783 0.000byClusterbyFreq missenseAIle [I]1166
contig referenceGVal [V]1166
58441009840 rs771259731 0.000 missenseGGlu [E]1167
contig referenceALys [K]1167
58441010841 rs1450637787 N.D. missenseGArg [R]2167
contig referenceALys [K]2167
58441012843 rs774643393 0.000 missenseGGlu [E]1168
contig referenceALys [K]1168
58441013844 rs889196220 N.D. missenseTMet [M]2168
contig referenceALys [K]2168
58441015846 rs759760356 0.000byCluster missenseAIle [I]1169
missenseTPhe [F]1169
contig referenceGVal [V]1169
58441020851 rs143144050 0.003byClusterbyFreqWith1000GenomeData0.0010 missenseAIle [I]3170
contig referenceGMet [M]3170
58441022853 rs574879541 N.D. missenseTVal [V]2171
contig referenceAGlu [E]2171
58441024855 rs1300346512 N.D. missenseALys [K]1172
contig referenceGGlu [E]1172
58441034865 rs1279505552 N.D. missenseALys [K]2175
contig referenceGArg [R]2175
58441035866 rs1398045840 N.D. synonymousAArg [R]3175
contig referenceGArg [R]3175
58441038869 rs199921117 0.002byClusterbyFreqWith1000GenomeData0.0002 synonymousALeu [L]3176
synonymousCLeu [L]3176
contig referenceGLeu [L]3176
58441042873 rs1039112226 N.D. missenseASer [S]1178
contig referenceGGly [G]1178
58441046877 rs1335460635 N.D. missenseTVal [V]2179
contig referenceAGlu [E]2179
58441052883 rs760717241 0.000byClusterbyFreq missenseGArg [R]2181
contig referenceAGln [Q]2181
58441057888 rs374376908 0.000byCluster synonymousTLeu [L]1183
contig referenceCLeu [L]1183
58441058889 rs1419422675 N.D. missenseCPro [P]2183
contig referenceTLeu [L]2183
58441060891 rs750394268 0.000byFreq missenseTTrp [W]1184
contig referenceCArg [R]1184
58441061892 rs145483046 0.000byClusterbyFreq missenseAGln [Q]2184
missenseTLeu [L]2184
contig referenceGArg [R]2184
58441067898 rs1462436927 N.D. missenseGGly [G]2186
contig referenceAGlu [E]2186
58441071902 rs1413230152 N.D. synonymousTAsn [N]3187
contig referenceCAsn [N]3187
58441073904 rs1228073172 N.D. missenseCThr [T]2188
missenseGArg [R]2188
contig referenceALys [K]2188
58441074905 rs1252962552 N.D. synonymousALys [K]3188
contig referenceGLys [K]3188
58441082913 rs1478963107 N.D. missenseCThr [T]2191
missenseGArg [R]2191
contig referenceALys [K]2191
58444079917 rs1344290136 N.D. missenseTAsp [D]3192
contig referenceAGlu [E]3192
58444090928 rs1252954619 N.D. missenseCPro [P]2196
contig referenceTLeu [L]2196
58444092930 rs371134278 0.000 missenseTTrp [W]1197
contig referenceCArg [R]1197
58444095933 rs777156361 0.000 missenseGVal [V]1198
contig referenceAMet [M]1198
58444100938 rs748793394 0.000byFreq synonymousAArg [R]3199
contig referenceGArg [R]3199
58444104942 rs757786343 0.000 missenseGAla [A]1201
missenseTSer [S]1201
contig referenceAThr [T]1201
58444105943 rs996848558 N.D. missenseTIle [I]2201
contig referenceCThr [T]2201
58444106944 rs779445781 0.000 synonymousGThr [T]3201
contig referenceAThr [T]3201
58444111949 rs746344958 0.000byFreq missenseGArg [R]2203
missenseTLeu [L]2203
contig referenceAGln [Q]2203
58444117955 rs775909784 0.000 missenseGSer [S]2205
contig referenceAAsn [N]2205
58444121959 rs747208140 0.000byFreq synonymousTSer [S]3206
contig referenceCSer [S]3206
58444122960 rs1317822478 N.D. missenseTSer [S]1207
contig referenceCPro [P]1207
58444123961 rs1218196719 N.D. missenseGArg [R]2207
contig referenceCPro [P]2207
58444125963 rs376121617 0.000byCluster missenseGVal [V]1208
contig referenceAIle [I]1208
58444130968 rs776602075 0.000byFreq synonymousGSer [S]3209
contig referenceASer [S]3209
58444133971 rs377763768 0.000byCluster synonymousGAla [A]3210
contig referenceAAla [A]3210
58444143981 rs761901183 0.000byFreq missenseGAla [A]1214
contig referenceAThr [T]1214
58444144982 rs1271622919 N.D. missenseTIle [I]2214
contig referenceCThr [T]2214
58444146984 rs765382321 0.000byFreq missenseAArg [R]1215
missenseCArg [R]1215
contig referenceGGly [G]1215
58444151989 rs759536312 0.000 synonymousALys [K]3216
contig referenceGLys [K]3216
58444154992 rs767437818 0.000byFreq synonymousGGlu [E]3217
contig referenceAGlu [E]3217
58444161999 rs142370781 0.000 missenseTPhe [F]1220
contig referenceCLeu [L]1220
584441691007 rs1363518989 N.D. synonymousAThr [T]3222
contig referenceCThr [T]3222
584441701008 rs144718603 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTTrp [W]1223
synonymousAArg [R]1223
contig referenceCArg [R]1223
584441711009 rs763755820 0.000 missenseAGln [Q]2223
missenseCPro [P]2223
contig referenceGArg [R]2223
584441731011 rs753411071 0.000 missenseTPhe [F]1224
contig referenceCLeu [L]1224
584441751013 rs1352137271 N.D. synonymousTLeu [L]3224
contig referenceCLeu [L]3224
584441771015 rs1439925669 N.D. missenseCSer [S]2225
contig referenceTLeu [L]2225
584441791017 rs756801275 0.000 missenseAThr [T]1226
contig referenceGAla [A]1226
584441841022 rs778389082 0.000byFreq synonymousALeu [L]3227
contig referenceGLeu [L]3227
584441851023 rs1409196940 N.D. missenseTLeu [L]1228
contig referenceGVal [V]1228
584441941032 rs1225692453 N.D. missenseCLeu [L]1231
contig referenceTPhe [F]1231
584442021040 rs372088559 0.000byClusterbyFreq synonymousTIle [I]3233
contig referenceCIle [I]3233
584442031041 rs149215094 0.000byClusterbyFreq missenseAIle [I]1234
contig referenceGVal [V]1234
584442041042 rs780285597 0.000 missenseCAla [A]2234
contig referenceTVal [V]2234
584442141052 rs747355144 0.000 synonymousAIle [I]3237
contig referenceTIle [I]3237
584442221060 rs547047347 0.000With1000GenomeData0.0002 missenseGArg [R]2240
contig referenceALys [K]2240
584442251063 rs961882650 N.D. missenseCThr [T]2241
contig referenceTIle [I]2241