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SNP linked to Gene (geneID:51274) 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
XM_017008279.1plus strandXP_016863768.1forwardNT_006238.12GRCh38.p7View snp on GeneModel
NM_016531.5plus strandNP_057615.3forwardNT_006238.12GRCh38.p7View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
XR_925142.1298, 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
38680627334 rs1262846340 N.D. missenseCThr [T]21
contig referenceTMet [M]21
38680630337 rs1465433180 N.D. missenseAHis [H]22
contig referenceTLeu [L]22
38680633340 rs1188143224 N.D. missenseCThr [T]23
contig referenceTMet [M]23
38680634341 rs1388578864 N.D. missenseAIle [I]33
contig referenceGMet [M]33
38680640347 rs1446786564 N.D. missenseGGlu [E]35
contig referenceCAsp [D]35
38680642349 rs542048069 0.000With1000GenomeData0.0002 missenseTLeu [L]26
contig referenceCPro [P]26
38680643350 rs561821179 0.000byFreqWith1000GenomeData0.0006 synonymousCPro [P]36
contig referenceAPro [P]36
38680644351 rs775480358 0.000byFreq missenseAIle [I]17
missenseCLeu [L]17
contig referenceGVal [V]17
38680647354 rs1456833881 N.D. frame shift-Leu [L]18
contig referenceCPro [P]18
38680650357 rs1214343824 N.D. missenseCLeu [L]19
contig referenceGVal [V]19
38680659366 rs768274115 0.000 missenseALys [K]112
missenseCGln [Q]112
contig referenceGGlu [E]112
38680661368 rs867895440 N.D.byCluster synonymousAGlu [E]312
contig referenceGGlu [E]312
38680667374 rs1385017891 N.D. missenseTIle [I]314
contig referenceGMet [M]314
38680668375 rs773927544 0.000byFreq missenseTTyr [Y]115
contig referenceGAsp [D]115
38680671378 rs1318074337 N.D. missenseAThr [T]116
contig referenceCPro [P]116
38680674381 rs1267220807 N.D. missenseCLeu [L]117
contig referenceGVal [V]117
38680675382 rs1384550081 N.D. missenseAAsp [D]217
contig referenceTVal [V]217
38680676383 rs530847522 0.000With1000GenomeData0.0002 synonymousTVal [V]317
contig referenceCVal [V]317
38680678385 rs767146040 0.000 missenseTLeu [L]218
contig referenceCSer [S]218
38680679386 rs114311199 0.001byClusterbyFreqWith1000GenomeData0.0020 synonymousGSer [S]318
contig referenceASer [S]318
38680681388 rs1296656520 N.D. missenseGGly [G]219
contig referenceTVal [V]219
38688587392 rs771521122 0.000byFreq synonymousTSer [S]320
contig referenceASer [S]320
38688591396 rs373009633 0.000 missenseTSer [S]122
contig referenceCPro [P]122
38688611416 rs772896810 0.000 synonymousTSer [S]328
contig referenceCSer [S]328
38688621426 rs760301740 0.000 missenseGAsp [D]132
contig referenceAAsn [N]132
38688625430 rs770622269 0.000 missenseGArg [R]233
contig referenceALys [K]233
38688628433 rs1334690588 N.D. missenseGCys [C]234
contig referenceATyr [Y]234
38688629434 rs767856332 N.D. synonymousCTyr [Y]334
contig referenceTTyr [Y]334
38688635440 rs377003626 0.000byClusterbyFreq synonymousTVal [V]336
contig referenceCVal [V]336
38688648453 rs369534232 0.000byCluster missenseGAla [A]141
contig referenceCPro [P]141
38688651456 rs142878615 0.000byClusterbyFreq synonymousCLeu [L]142
contig referenceTLeu [L]142
38688653458 rs1179321179 N.D. synonymousALeu [L]342
contig referenceGLeu [L]342
38688655460 rs1253090258 N.D. missenseGArg [R]243
contig referenceCPro [P]243
38688656461 rs1413667648 N.D. synonymousAPro [P]343
contig referenceTPro [P]343
38688659464 rs1189588775 N.D. missenseCAsp [D]344
contig referenceGGlu [E]344
38688660465 rs753246595 0.000 missenseGGlu [E]145
contig referenceALys [K]145
38688664469 rs1180730740 N.D. missenseCSer [S]246
contig referenceTPhe [F]246
38688675480 rs1482413031 N.D. missenseTSer [S]150
contig referenceCPro [P]150
38688677482 rs763068318 0.000byFreq synonymousGPro [P]350
contig referenceAPro [P]350
38688680485 rs764142693 0.000byClusterbyFreq synonymousGGlu [E]351
contig referenceAGlu [E]351
38688688493 rs144262675 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTLeu [L]254
contig referenceCSer [S]254
38688689494 rs944703440 N.D. synonymousASer [S]354
synonymousCSer [S]354
synonymousTSer [S]354
contig referenceGSer [S]354
38688691496 rs757351497 0.000 missenseGArg [R]255
contig referenceAHis [H]255
38688692497 rs1308426929 N.D. synonymousTHis [H]355
contig referenceCHis [H]355
38688693498 rs200524146 N.D.byCluster missenseAArg [R]156
contig referenceGGly [G]156
38688697502 rs1040395293 N.D. missenseALys [K]257
contig referenceTIle [I]257
38688701506 rs1407920553 N.D. missenseTHis [H]358
contig referenceGGln [Q]358
38688704509 rs781573258 0.000 missenseAIle [I]359
contig referenceGMet [M]359
38688707512 rs148740827 0.000byClusterbyFreq synonymousAGlu [E]360
contig referenceGGlu [E]360
38688722527 rs373502495 0.000byClusterbyFreq synonymousAThr [T]365
contig referenceGThr [T]365
38688723528 rs1300765519 N.D. missenseAMet [M]166
contig referenceGVal [V]166
38688728533 rs1310677506 N.D. synonymousTAsn [N]367
contig referenceCAsn [N]367
38688732537 rs778961008 0.000 missenseTTrp [W]169
contig referenceCArg [R]169
38688733538 rs748083085 0.000byClusterbyFreq missenseAGln [Q]269
contig referenceGArg [R]269
38688734539 rs771597394 0.000 synonymousTArg [R]369
contig referenceGArg [R]369
38688735540 rs201836837 0.000byClusterbyFreq missenseTCys [C]170
contig referenceASer [S]170
38688735540 rs758507634 0.000 frame shiftTMet [M]170
contig reference-Ser [S]170
38688740545 rs746543079 0.000 synonymousCSer [S]371
synonymousGSer [S]371
synonymousTSer [S]371
contig referenceASer [S]371
38688743548 rs377495024 0.000byClusterbyFreq synonymousTPro [P]372
contig referenceCPro [P]372
38688744549 rs375331147 0.000byClusterbyFreq missenseAThr [T]173
missenseGAla [A]173
missenseTSer [S]173
contig referenceCPro [P]173
38688747552 rs775966171 0.000 missenseAThr [T]174
contig referenceTSer [S]174
38688748553 rs150818202 0.000byClusterbyFreq nonsenseA274
missenseGTrp [W]274
missenseTLeu [L]274
contig referenceCSer [S]274
38688749554 rs569064361 0.000byFreqWith1000GenomeData0.0004 synonymousASer [S]374
contig referenceGSer [S]374
38688750555 rs1362678424 N.D. missenseAThr [T]175
contig referenceGAla [A]175
38688754559 rs1168915953 N.D. missenseTVal [V]276
contig referenceGGly [G]276
38688757562 rs372969202 0.000byClusterbyFreq missenseGSer [S]277
contig referenceAAsn [N]277
38688759564 rs767805661 0.000 missenseCPro [P]178
contig referenceTSer [S]178
38688760565 rs369311053 0.000byClusterbyFreq missenseTLeu [L]278
contig referenceCSer [S]278
38688761566 rs754796742 0.000byFreq synonymousASer [S]378
contig referenceGSer [S]378
38688762567 rs1437210747 N.D. missenseGAla [A]179
contig referenceCPro [P]179
38688764569 rs765180141 0.000byFreq synonymousAPro [P]379
contig referenceCPro [P]379
38688766571 rs117461542 0.000byClusterWith1000GenomeData0.0002 missenseTPhe [F]280
contig referenceCSer [S]280
38688767572 rs1365663326 N.D. synonymousGSer [S]380
synonymousTSer [S]380
contig referenceCSer [S]380
38688769574 rs1230844627 N.D. missenseTPhe [F]281
contig referenceCSer [S]281
38688771576 rs375983014 0.000byClusterbyFreq synonymousTLeu [L]182
contig referenceCLeu [L]182
38688781586 rs17857398 0.000byClusterbyFreq missenseTLeu [L]285
contig referenceCPro [P]285
38688782587 rs756476726 N.D.byCluster synonymousAPro [P]385
contig referenceGPro [P]385
38688783588 rs766215913 0.000byFreq -187
38688787592 rs1226691328 N.D. missenseTLeu [L]287
contig referenceCSer [S]287
38688789594 rs374324359 0.000byClusterbyFreq missenseTTyr [Y]188
contig referenceCHis [H]188
38688791596 rs1311600709 N.D. missenseGGln [Q]388
contig referenceCHis [H]388
38688793598 rs761153626 0.000byFreq missenseAGln [Q]289
contig referenceGArg [R]289
38688794599 rs1376942556 N.D. synonymousAArg [R]389
contig referenceGArg [R]389
38688796601 rs1221557465 N.D. missenseCThr [T]290
contig referenceGArg [R]290
38688799604 rs780803803 0.000 missenseTVal [V]291
contig referenceCAla [A]291
38688800605 rs1486587049 N.D. synonymousTAla [A]391
contig referenceCAla [A]391
38688801606 rs745581332 0.000byFreq missenseAThr [T]192
contig referenceTSer [S]192
38688802607 rs368422949 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseTLeu [L]292
contig referenceCSer [S]292
38688803608 rs577513330 0.000byFreqWith1000GenomeData0.0006 synonymousASer [S]392
synonymousTSer [S]392
contig referenceGSer [S]392
38688808613 rs768992554 0.000 missenseAGlu [E]294
contig referenceGGly [G]294
38688818623 rs1350078258 N.D. missenseAIle [I]397
contig referenceGMet [M]397
38688819624 rs1166360331 N.D. missenseTSer [S]198
contig referenceCPro [P]198
38688827632 rs145278110 0.000byClusterbyFreq synonymousTSer [S]3100
contig referenceCSer [S]3100
38688828633 rs1413745939 N.D. missenseGGly [G]1101
contig referenceASer [S]1101
38688829634 rs200788104 0.000byClusterWith1000GenomeData0.0002 missenseTIle [I]2101
contig referenceGSer [S]2101
38688836641 rs761766407 0.000byFreq synonymousAPro [P]3103
contig referenceGPro [P]3103
38688838643 rs1321548436 N.D. missenseCThr [T]2104
contig referenceTIle [I]2104
38688839644 rs767752575 0.000 missenseGMet [M]3104
synonymousTIle [I]3104
contig referenceAIle [I]3104
38688849654 rs553313192 0.000With1000GenomeData0.0002 missenseCPro [P]1108
contig referenceTSer [S]1108
38688852657 rs371074043 0.000byCluster missenseTSer [S]1109
contig referenceCPro [P]1109
38688853658 rs766713070 0.000 missenseTLeu [L]2109
contig referenceCPro [P]2109
38688857662 rs1002536838 N.D. synonymousCPro [P]3110
contig referenceTPro [P]3110
38688858663 rs752385388 0.000byFreq missenseCPro [P]1111
contig referenceTSer [S]1111
38688864669 rs374745533 0.000byCluster missenseCArg [R]1113
contig referenceGGly [G]1113
38688866671 rs548049272 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTGly [G]3113
contig referenceCGly [G]3113
38688867672 rs200138091 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAMet [M]1114
contig referenceGVal [V]1114
38688869674 rs955759740 N.D. synonymousAVal [V]3114
contig referenceGVal [V]3114
38688873678 rs1357582353 N.D. missenseTSer [S]1116
contig referenceCPro [P]1116
38688874679 rs17854688 N.D. missenseAHis [H]2116
contig referenceCPro [P]2116
38688875680 rs562428356 0.000byFreqWith1000GenomeData0.0002 synonymousTPro [P]3116
contig referenceCPro [P]3116
38688878683 rs531970339 0.000byFreqWith1000GenomeData0.0002 synonymousTPhe [F]3117
contig referenceCPhe [F]3117
38688879684 rs780750739 0.000 missenseASer [S]1118
missenseTCys [C]1118
contig referenceGGly [G]1118
38688881686 rs1208812123 N.D. synonymousTGly [G]3118
contig referenceCGly [G]3118
38688882687 rs745389848 0.000byFreq missenseAMet [M]1119
missenseTLeu [L]1119
contig referenceGVal [V]1119
38688884689 rs1463257478 N.D. synonymousAVal [V]3119
synonymousTVal [V]3119
contig referenceGVal [V]3119
38688887692 rs201591446 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousAPro [P]3120
contig referenceGPro [P]3120
38688890695 rs376365975 0.000byCluster synonymousCLeu [L]3121
contig referenceGLeu [L]3121
38688891696 rs1472371597 N.D. missenseCPro [P]1122
contig referenceTSer [S]1122
38688894699 rs199559194 0.000byClusterbyFreq missenseGVal [V]1123
contig referenceAMet [M]1123
38688895700 rs1410111741 N.D. missenseCThr [T]2123
contig referenceTMet [M]2123
38688896701 rs1294884647 N.D. missenseCIle [I]3123
contig referenceGMet [M]3123
38688897702 rs1433685012 N.D. missenseGAla [A]1124
contig referenceCPro [P]1124
38688900705 rs1458828739 N.D. missenseTSer [S]1125
contig referenceCPro [P]1125
38688902707 rs986351832 N.D. synonymousGPro [P]3125
contig referenceAPro [P]3125
38688903708 rs769102407 0.000 missenseAMet [M]1126
contig referenceGVal [V]1126
38688909714 rs372172237 0.000byCluster missenseAThr [T]1128
contig referenceGAla [A]1128
38688910715 rs1336448449 N.D. missenseTVal [V]2128
contig referenceCAla [A]2128
38688911716 rs748721232 0.000byFreq synonymousCAla [A]3128
synonymousGAla [A]3128
contig referenceAAla [A]3128
38688912717 rs1432238621 N.D. missenseTSer [S]1129
contig referenceGAla [A]1129
38688921726 rs1447795767 N.D. missenseGAla [A]1132
contig referenceTSer [S]1132
38688922727 rs773358983 0.000byFreq missenseGTrp [W]2132
missenseTLeu [L]2132
contig referenceCSer [S]2132
38688923728 rs147620606 0.000byClusterbyFreq synonymousASer [S]3132
contig referenceGSer [S]3132
38688925730 rs35098477 0.000byClusterbyFreq missenseAGln [Q]2133
contig referenceGArg [R]2133
38688930735 rs919273371 N.D. missenseAArg [R]1135
contig referenceGGly [G]1135
38688931736 rs1266930334 N.D. missenseTVal [V]2135
contig referenceGGly [G]2135
38688935740 rs762635083 0.000 missenseGMet [M]3136
contig referenceAIle [I]3136
38688936741 rs764010396 0.000byFreq missenseTTrp [W]1137
contig referenceCArg [R]1137
38688937742 rs751450178 0.000 missenseAGln [Q]2137
contig referenceGArg [R]2137
38688940745 rs376784680 0.000byClusterbyFreq missenseCThr [T]2138
contig referenceGSer [S]2138
38688944749 rs751251974 0.000 frame shift-Ser [S]3141
contig referenceGIle [I]3141
38688944749 rs767459861 0.000byFreq synonymousAPro [P]3139
contig referenceGPro [P]3139
38688947752 rs929385270 N.D. synonymousTGly [G]3140
contig referenceGGly [G]3140
38688953758 rs1181457936 N.D. synonymousALeu [L]3142
contig referenceGLeu [L]3142
38688956761 rs140456976 0.000byCluster synonymousAPro [P]3143
synonymousTPro [P]3143
contig referenceCPro [P]3143
38688957762 rs755648642 0.000 missenseAIle [I]1144
contig referenceGVal [V]1144
38688964769 rs1252716275 N.D. missenseGArg [R]2146
contig referenceAGln [Q]2146
38688965770 rs1174491078 N.D. missenseCHis [H]3146
contig referenceGGln [Q]3146
38688968773 rs779539175 0.000byFreq synonymousAPro [P]3147
contig referenceGPro [P]3147
38688974779 rs1344292048 N.D. synonymousTVal [V]3149
contig referenceGVal [V]3149
38688976781 rs753574203 0.000 missenseGGly [G]2150
contig referenceTVal [V]2150
38688983788 rs755283435 0.000 synonymousTPro [P]3152
contig referenceCPro [P]3152
38688984789 rs149694821 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAIle [I]1153
contig referenceGVal [V]1153
38688994799 rs1410941224 N.D. missenseCThr [T]2156
contig referenceTMet [M]2156
38688998803 rs748527189 0.000 synonymousTTyr [Y]3157
contig referenceCTyr [Y]3157
38689002807 rs754576910 N.D. missenseGGly [G]1159
contig referenceASer [S]1159
38689005810 rs772649026 0.000 missenseTTyr [Y]1160
contig referenceCHis [H]1160
38689007812 rs527946421 0.001byFreqWith1000GenomeData0.0002 synonymousTHis [H]3160
contig referenceCHis [H]3160
38689008813 rs1013156821 N.D. missenseTPhe [F]1161
contig referenceCLeu [L]1161
38689012817 rs747055477 0.000 missenseGArg [R]2162
contig referenceAGln [Q]2162
38689017822 rs1198432819 N.D. missenseGAla [A]1164
contig referenceCPro [P]1164
38689018823 rs1473024062 N.D. missenseTLeu [L]2164
contig referenceCPro [P]2164
38689021826 rs771094199 0.000 missenseCPro [P]2165
missenseGArg [R]2165
contig referenceTLeu [L]2165
38689023828 rs1033155676 N.D. missenseGVal [V]1166
contig referenceAMet [M]1166
38689024829 rs1483285175 N.D. missenseCThr [T]2166
contig referenceTMet [M]2166
38689026831 rs145534981 0.000byClusterbyFreq missenseAIle [I]1167
contig referenceGVal [V]1167
38689027832 rs1249562475 N.D. missenseCAla [A]2167
contig referenceTVal [V]2167
38689028833 rs1417321797 N.D. synonymousTVal [V]3167
contig referenceCVal [V]3167
38689029834 rs1293934980 N.D. missenseCPro [P]1168
contig referenceTSer [S]1168
38689036841 rs547830183 0.000With1000GenomeData0.0002 missenseTLeu [L]2170
contig referenceCSer [S]2170
38689037842 rs759871541 0.000byFreq synonymousASer [S]3170
contig referenceGSer [S]3170
38689041846 rs780386000 0.000byClusterbyFreq missenseALys [K]1172
contig referenceGGlu [E]1172
38689056861 rs148849961 0.001byClusterbyFreq missenseTCys [C]1177
contig referenceASer [S]1177
38689058863 rs761622672 0.000byFreq missenseGArg [R]3177
synonymousCSer [S]3177
contig referenceTSer [S]3177
38689061866 rs1011292900 N.D. synonymousCSer [S]3178
contig referenceTSer [S]3178
38689063868 rs767398463 0.000 missenseAAsn [N]2179
missenseCThr [T]2179
contig referenceGSer [S]2179
38689065870 rs750396918 0.000 missenseGVal [V]1180
contig referenceAMet [M]1180
38689066871 rs760078799 0.000 missenseCThr [T]2180
contig referenceTMet [M]2180
38689067872 rs765969641 0.000 missenseTIle [I]3180
contig referenceGMet [M]3180
38689730878 rs1156376462 N.D. synonymousGVal [V]3182
contig referenceAVal [V]3182
38689734882 rs1399575727 N.D. missenseAIle [I]1184
contig referenceGVal [V]1184
38689735883 rs1322097109 N.D. missenseAGlu [E]2184
contig referenceTVal [V]2184
38689741889 rs758824666 0.000 missenseGGly [G]2186
contig referenceAGlu [E]2186
38689745893 rs748441499 0.000 synonymousGSer [S]3187
contig referenceASer [S]3187
38689746894 rs1165447195 N.D. missenseCHis [H]1188
contig referenceTTyr [Y]1188
38689749897 rs997635288 N.D. missenseALys [K]1189
contig referenceGGlu [E]1189
38689758906 rs1295121505 N.D. missenseGVal [V]1192
contig referenceAIle [I]1192
38689773921 rs751979944 0.000byFreq missenseGVal [V]1197
contig referenceAIle [I]1197
38689775923 rs1245397890 N.D. missenseGMet [M]3197
contig referenceTIle [I]3197
38689779927 rs757728554 0.000byFreq missenseCLeu [L]1199
contig referenceAIle [I]1199
38689781929 rs781576441 0.000 missenseGMet [M]3199
contig referenceAIle [I]3199
38689791939 rs1242996264 N.D. missenseTPhe [F]1203
contig referenceAIle [I]1203
38689793941 rs1026504285 N.D. synonymousTIle [I]3203
contig referenceCIle [I]3203
38689794942 rs377705302 0.000byClusterbyFreq missenseALys [K]1204
contig referenceGGlu [E]1204
38689797945 rs143460542 0.001byClusterbyFreqWith1000GenomeData0.0004 missenseTSer [S]1205
contig referenceCPro [P]1205
38689803951 rs780223899 0.000 missenseGGly [G]1207
contig referenceAArg [R]1207
38689805953 rs17616226 0.004byCluster missenseCSer [S]3207
contig referenceGArg [R]3207
38689816964 rs1016654265 N.D. missenseGCys [C]2211
contig referenceATyr [Y]2211
38689830978 rs761224497 N.D. missenseCPro [P]1216
contig referenceTSer [S]1216
38689833981 rs749567089 0.000 missenseTSer [S]1217
contig referenceCPro [P]1217
38689833981 rs1260051731 N.D. frame shift-1219
contig referenceCLeu [L]1219
38689837985 rs771847684 0.000 missenseTLeu [L]2218
contig referenceCPro [P]2218
38689841989 rs1368432957 N.D. missenseCPhe [F]3219
contig referenceALeu [L]3219
38689842990 rs1240522172 N.D. missenseGVal [V]1220
contig referenceAMet [M]1220
38689843991 rs1459359026 N.D. missenseGArg [R]2220
contig referenceTMet [M]2220
38689847995 rs1160720178 N.D. synonymousTAsn [N]3221
contig referenceCAsn [N]3221
386898551003 rs1388814184 N.D. missenseGCys [C]2224
contig referenceCSer [S]2224
386898591007 rs772922863 0.000byFreq synonymousGPro [P]3225
synonymousTPro [P]3225
contig referenceCPro [P]3225
386898611009 rs746791511 0.000byFreq missenseGArg [R]2226
missenseTLeu [L]2226
contig referenceCPro [P]2226
386898621010 rs61750339 0.000byClusterbyFreq synonymousAPro [P]3226
synonymousTPro [P]3226
contig referenceGPro [P]3226
386898641012 rs759063951 0.000byCluster missenseCPro [P]2227
contig referenceAGln [Q]2227
386898651013 rs1311869814 N.D. synonymousGGln [Q]3227
contig referenceAGln [Q]3227
386898661014 rs1338650901 N.D. missenseAThr [T]1228
contig referenceGAla [A]1228
386898671015 rs764897827 0.000 missenseTVal [V]2228
contig referenceCAla [A]2228
386898681016 rs140727500 0.000byClusterbyFreq synonymousGAla [A]3228
contig referenceAAla [A]3228
386898691017 rs375893630 0.000byClusterbyFreq synonymousCLeu [L]1229
contig referenceTLeu [L]1229
386898751023 rs763849495 0.000 missenseALys [K]1231
contig referenceCGln [Q]1231
386947461028 rs767831619 0.000 synonymousAGlu [E]3232
contig referenceGGlu [E]3232
386947471029 rs200642404 0.002 missenseGAsp [D]1233
contig referenceAAsn [N]1233
386947481030 rs145874381 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseCThr [T]2233
contig referenceAAsn [N]2233
386947571039 rs761105610 0.000byFreq missenseTLeu [L]2236
contig referenceCSer [S]2236
386947581040 rs138417483 0.001byClusterbyFreqWith1000GenomeData0.0004 synonymousASer [S]3236
synonymousCSer [S]3236
synonymousTSer [S]3236
contig referenceGSer [S]3236
386947621044 rs1433376572 N.D. missenseCLeu [L]1238
contig referenceAIle [I]1238
386947641046 rs142916199 0.002byClusterbyFreqWith1000GenomeData0.0004 synonymousTIle [I]3238
contig referenceCIle [I]3238
386947651047 rs201522223 0.000byClusterbyFreq missenseAMet [M]1239
contig referenceGVal [V]1239
386947681050 rs150243974 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseGGlu [E]1240
contig referenceCGln [Q]1240
386947761058 rs780782440 0.000 synonymousAGly [G]3242
contig referenceGGly [G]3242
386947791061 rs745668753 0.000 synonymousALys [K]3243
contig referenceGLys [K]3243
386947811063 rs769802252 0.000 missenseALys [K]2244
contig referenceGArg [R]2244
386947831065 rs1296496275 N.D. missenseAThr [T]1245
contig referenceCPro [P]1245
386947851067 rs367783706 0.000byCluster synonymousCPro [P]3245
contig referenceTPro [P]3245
386947861068 rs1220024579 N.D. synonymousCLeu [L]1246
contig referenceTLeu [L]1246
386948021084 rs920094929 N.D. missenseTLeu [L]2251
contig referenceCPro [P]2251
386948031085 rs138833065 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousAPro [P]3251
contig referenceGPro [P]3251
386948111093 rs748087861 0.000 frame shift-Arg [R]2254
contig referenceAAAGGln [Q]2254
386948171099 rs768335434 0.000 missenseGArg [R]2256
contig referenceALys [K]2256
386948181100 rs774043856 0.000 synonymousALys [K]3256
contig referenceGLys [K]3256
386948201102 rs183262895 0.000byClusterWith1000GenomeData0.0002 YesmissenseAGln [Q]2257
contig referenceGArg [R]2257
386948331115 rs771762932 0.000 synonymousGArg [R]3261
contig referenceAArg [R]3261
386948441126 rs773394208 0.000byFreq missenseGGly [G]2265
contig referenceAAsp [D]2265
386948531135 rs1190212199 N.D. missenseCThr [T]2268
contig referenceAAsn [N]2268
386948581140 rs372657986 0.000byCluster YesmissenseAMet [M]1270
contig referenceGVal [V]1270
386948591141 rs985226995 N.D. missenseGGly [G]2270
contig referenceTVal [V]2270
386948601142 rs766832315 0.000 synonymousAVal [V]3270
contig referenceGVal [V]3270
386948661148 rs1389373491 N.D. synonymousGThr [T]3272
contig referenceTThr [T]3272
386948721154 rs754382386 0.000 synonymousTSer [S]3274
contig referenceCSer [S]3274
386948781160 rs1447173648 N.D. synonymousTHis [H]3276
contig referenceCHis [H]3276
386949021184 rs1166903748 N.D. synonymousTHis [H]3284
contig referenceCHis [H]3284
386970891196 rs775380955 0.000 synonymousGLys [K]3288
contig referenceALys [K]3288
386970981205 rs867682741 N.D. synonymousGLys [K]3291
contig referenceALys [K]3291
386971021209 rs763121021 0.000byFreq missenseGAla [A]1293
contig referenceAThr [T]1293
386971031210 rs1283128420 N.D. (21bp) [CKKCVR]2294
386971041211 rs1010293037 N.D. synonymousGThr [T]3293
contig referenceAThr [T]3293
386971061213 rs1180798237 N.D. nonsenseA2294
contig referenceGTrp [W]2294
386971111218 rs764187784 0.000 missenseAArg [R]1296
contig referenceGGly [G]1296
386971131220 rs751875595 0.000 synonymousTGly [G]3296
contig referenceGGly [G]3296
386971171224 rs376533805 0.000 YesmissenseGAla [A]1298
contig referenceAThr [T]1298
386971191226 rs569719212 0.001byFreqWith1000GenomeData0.0010 synonymousCThr [T]3298
synonymousGThr [T]3298
contig referenceAThr [T]3298
386971241231 rs1323916572 N.D. missenseGArg [R]2300
contig referenceALys [K]2300
386971321239 rs1472409063 N.D. missenseTTrp [W]1303
contig referenceCArg [R]1303
386971331240 rs1185801175 N.D. missenseAGln [Q]2303
missenseCPro [P]2303
contig referenceGArg [R]2303
386971521259 rs199503755 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousGArg [R]3309
contig referenceAArg [R]3309
386971591266 rs1473620454 N.D. nonsenseT1312
contig referenceCArg [R]1312
386971611268 rs149372373 0.000byCluster YessynonymousGArg [R]3312
contig referenceAArg [R]3312
386971641271 rs1384560903 N.D. missenseCAsn [N]3313
contig referenceALys [K]3313
386971651272 rs778933698 0.000 missenseGAsp [D]1314
contig referenceCHis [H]1314
386971671274 rs747572188 0.000 synonymousCHis [H]3314
contig referenceTHis [H]3314
386971691276 rs757967760 0.000byFreq missenseGSer [S]2315
contig referenceCThr [T]2315
386971761283 rs777382745 0.000 missenseGMet [M]3317
contig referenceCIle [I]3317
386971821289 rs746731270 0.000 synonymousCPro [P]3319
contig referenceTPro [P]3319
386971881295 rs770574210 0.000 synonymousAGln [Q]3321
contig referenceGGln [Q]3321
386971921299 rs773018621 0.000byClusterbyFreq missenseTSer [S]1323
contig referenceCPro [P]1323
386971931300 rs766351747 0.000byFreq missenseGArg [R]2323
missenseTLeu [L]2323
contig referenceCPro [P]2323
386971941301 rs770157784 0.000byFreq synonymousAPro [P]3323
synonymousCPro [P]3323
synonymousTPro [P]3323
contig referenceGPro [P]3323
386972051312 rs1017488009 N.D. missenseAHis [H]2327
contig referenceGArg [R]2327
386972091316 rs899772655 N.D. synonymousTSer [S]3328
contig referenceCSer [S]3328
386972391346 rs776101807 0.000byFreq synonymousCHis [H]3338
contig referenceTHis [H]3338
386972441351 rs1279063455 N.D. missenseGArg [R]2340
contig referenceALys [K]2340
386972461353 rs900327687 N.D. missenseTCys [C]1341
contig referenceCArg [R]1341
386972511358 rs762915564 0.000 synonymousTHis [H]3342
contig referenceCHis [H]3342
386972521359 rs764287640 0.000byFreq missenseGVal [V]1343
contig referenceAMet [M]1343
386972531360 rs774714439 0.000 missenseCThr [T]2343
contig referenceTMet [M]2343
386972541361 rs1183012335 N.D. missenseAIle [I]3343
contig referenceGMet [M]3343
386972551362 rs747271415 0.000 frame shift(14bp)Leu [L]1344
contig reference-Leu [L]1344
386972591366 rs762063698 0.000byFreq missenseCAla [A]2345
contig referenceTVal [V]2345
386979322039 rs1297543314 N.D. -
386988202927 rs1424058493 N.D. -
386988642971 rs1287572267 N.D. -
386989283035 rs1169749259 N.D. -
386990373144 rs1416782547 N.D. -
386991923299 rs1050606949 N.D. -
386992873394 rs1339864649 N.D. -
386996243731 rs1015415298 N.D. -
387001774284 rs1187135658 N.D. -
387002774384 rs1168673828 N.D. -
387006344741 rs1358781273 N.D. -
387006524759 rs1454624639 N.D. -
387010155122 rs1472750186 N.D. -
387010195126 rs1042408604 N.D. -