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SNP linked to Gene (geneID:4893) 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_002524.3minus strandNP_002515.1reverseNT_032977.10GRCh38.p7<- currently shown
NM_002524.4minus strandNP_002515.1reverseNT_032977.10GRCh38.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_032977.10NM_002524.3NP_002515.1reverseminus strand141, 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
114708538821 rs201471366 0.000byCluster missenseAIle [I]3189
contig referenceGMet [M]3189
114708544815 rs1392061627 N.D. synonymousAVal [V]3187
contig referenceGVal [V]3187
114708549810 rs1447630265 N.D. missenseASer [S]1186
contig referenceTCys [C]1186
114708550809 rs761356631 0.000 synonymousGPro [P]3185
contig referenceAPro [P]3185
114708557802 rs559507315 0.000byFreqWith1000GenomeData0.0002 missenseCAla [A]2183
missenseTVal [V]2183
contig referenceGGly [G]2183
114708559800 rs1215166529 N.D. missenseAIle [I]3182
contig referenceGMet [M]3182
114708560799 rs986099650 N.D. missenseCThr [T]2182
contig referenceTMet [M]2182
114708567792 rs779271866 0.000 missenseASer [S]1180
contig referenceGGly [G]1180
114708570789 rs1348956162 N.D. missenseALys [K]1179
contig referenceCGln [Q]1179
114708574785 rs1430947551 N.D. synonymousAGly [G]3177
contig referenceGGly [G]3177
114708577782 rs1445458048 N.D. missenseGGlu [E]3176
contig referenceTAsp [D]3176
114708578781 rs1286639968 N.D. missenseCAla [A]2176
contig referenceAAsp [D]2176
114708579780 rs1224664002 N.D. frame shift-Met [M]1176
contig referenceGAsp [D]1176
114708582777 rs1322008733 N.D. missenseAAsn [N]1175
contig referenceGAsp [D]1175
114708586773 rs1362360449 N.D. synonymousTSer [S]3173
contig referenceCSer [S]3173
114708591768 rs111759092 0.500 YesmissenseGAsp [D]1172
contig referenceAAsn [N]1172
114708603756 rs1212913135 N.D. missenseGVal [V]1168
contig referenceAMet [M]1168
114708614745 rs758669528 0.000 missenseAHis [H]2164
missenseTLeu [L]2164
contig referenceGArg [R]2164
114708624735 rs1237217518 N.D. missenseGGly [G]1161
contig referenceAArg [R]1161
114708630729 rs1357573899 N.D. missenseGVal [V]1159
contig referenceCLeu [L]1159
114708631728 rs778179888 0.000 synonymousTThr [T]3158
contig referenceAThr [T]3158
114708632727 rs1372376679 N.D. missenseTIle [I]2158
contig referenceCThr [T]2158
114708637722 rs1293532498 N.D. synonymousCPhe [F]3156
contig referenceTPhe [F]3156
114708640719 rs909184179 N.D. synonymousGAla [A]3155
contig referenceTAla [A]3155
114708641718 rs747080102 0.000 missenseTVal [V]2155
contig referenceCAla [A]2155
114708644713 rs775442535 0.000 -3153
114708644715 rs1429449890 N.D. missenseGGly [G]2154
contig referenceAAsp [D]2154
114708646713 rs1216736516 N.D. synonymousGGlu [E]3153
contig referenceAGlu [E]3153
114708648711 rs866005906 N.D.byCluster missenseALys [K]1153
contig referenceGGlu [E]1153
114708651708 rs757968407 N.D. missenseTPhe [F]1152
contig referenceGVal [V]1152
114709585688 rs1163400692 N.D. missenseTLeu [L]2145
contig referenceCSer [S]2145
114709587686 rs753079400 0.000byFreq synonymousTThr [T]3144
contig referenceCThr [T]3144
114709594679 rs758898839 0.000 missenseCThr [T]2142
contig referenceTIle [I]2142
114709602671 rs778126954 0.000 synonymousAIle [I]3139
contig referenceTIle [I]3139
114709604669 rs1470379709 N.D. missenseGVal [V]1139
contig referenceAIle [I]1139
114709607666 rs751774011 0.000 missenseAArg [R]1138
contig referenceGGly [G]1138
114709608665 rs368813470 0.000byClusterbyFreq YessynonymousTTyr [Y]3137
contig referenceCTyr [Y]3137
114709609664 rs1433700836 N.D. missenseGCys [C]2137
contig referenceATyr [Y]2137
114709615658 rs781289233 0.000 missenseGArg [R]2135
contig referenceALys [K]2135
114709625648 rs1456325880 N.D. missenseALys [K]1132
contig referenceGGlu [E]1132
114709626647 rs745954671 0.000byFreq synonymousTHis [H]3131
contig referenceCHis [H]3131
114709635638 rs766756901 0.000byFreq synonymousGLys [K]3128
contig referenceALys [K]3128
114709639634 rs779899354 0.000 missenseGArg [R]2127
contig referenceCThr [T]2127
114709641632 rs749081013 0.000 synonymousCAsp [D]3126
contig referenceTAsp [D]3126
114709646627 rs768500865 0.000 missenseAIle [I]1125
contig referenceGVal [V]1125
114709647626 rs774149383 0.000 synonymousGThr [T]3124
contig referenceAThr [T]3124
114709649624 rs747732620 0.000byFreq missenseCPro [P]1124
missenseGAla [A]1124
contig referenceAThr [T]1124
114709655618 rs772731110 0.000 missenseGAla [A]1122
missenseTSer [S]1122
contig referenceAThr [T]1122
114709663610 rs754428086 N.D. missenseGGly [G]2119
contig referenceAAsp [D]2119
114709686587 rs1198714974 N.D. missenseTIle [I]3111
contig referenceGMet [M]3111
114709688585 rs776195467 0.000byFreq missenseGVal [V]1111
contig referenceAMet [M]1111
114709689584 rs1483302300 N.D. synonymousCPro [P]3110
contig referenceTPro [P]3110
114709700573 rs895898932 N.D. missenseAAsn [N]1107
contig referenceGAsp [D]1107
114709701572 rs373254040 0.000byCluster YessynonymousASer [S]3106
contig referenceGSer [S]3106
114709704569 rs752000303 0.000 synonymousTAsp [D]3105
contig referenceCAsp [D]3105
114709719554 rs575693594 0.000byFreqWith1000GenomeData0.0002 synonymousAIle [I]3100
contig referenceTIle [I]3100
114709720553 rs1428145562 N.D. missenseCThr [T]2100
contig referenceTIle [I]2100
114709722551 rs941246661 N.D. missenseTHis [H]399
contig referenceGGln [Q]399
114713807537 rs1171006685 N.D. missenseTPhe [F]195
contig referenceCLeu [L]195
114713810534 rs764718441 0.000byFreq missenseCHis [H]194
contig referenceAAsn [N]194
114713817527 rs1429502684 N.D. synonymousAAla [A]391
contig referenceGAla [A]391
114713818526 rs774832953 0.000byClusterbyFreq missenseGGly [G]291
missenseTVal [V]291
contig referenceCAla [A]291
114713822522 rs1393160852 N.D. missenseCLeu [L]190
contig referenceTPhe [F]190
114713830514 rs1385254281 N.D. missenseAAsn [N]287
contig referenceGSer [S]287
114713836508 rs114636410 0.000byClusterWith1000GenomeData0.0002 YesmissenseGSer [S]285
contig referenceAAsn [N]285
114713838506 rs1365997556 N.D. missenseGMet [M]384
contig referenceCIle [I]384
114713840504 rs376177995 0.000byClusterbyFreq YesmissenseGVal [V]184
contig referenceAIle [I]184
114713841503 rs750670729 0.000 synonymousTAla [A]383
contig referenceCAla [A]383
114713847497 rs756373499 0.000 synonymousGVal [V]381
contig referenceAVal [V]381
114713862482 rs766379874 0.000byFreq synonymousGGlu [E]376
contig referenceAGlu [E]376
114713864480 rs753954415 0.000byFreq missenseALys [K]176
contig referenceGGlu [E]176
114713865479 rs142739534 0.001byClusterbyFreqWith1000GenomeData0.0008 YessynonymousTGly [G]375
contig referenceCGly [G]375
114713868476 rs778873511 0.000byFreq synonymousGThr [T]374
contig referenceAThr [T]374
114713888456 rs1365635887 N.D. missenseGGly [G]168
contig referenceAArg [R]168
114713900444 rs752508313 0.000 missenseGAsp [D]164
contig referenceTTyr [Y]164
114713921423 rs1465850103 N.D. missenseAAsn [N]157
contig referenceGAsp [D]157
114713924420 rs758182152 0.000 synonymousTLeu [L]156
contig referenceCLeu [L]156
114713926418 rs1246727247 N.D. missenseGArg [R]255
contig referenceTIle [I]255
114713928416 rs1428377920 N.D. synonymousTAsp [D]354
contig referenceCAsp [D]354
114713931413 rs114668710 0.000byClusterbyFreqWith1000GenomeData0.0002 YessynonymousALeu [L]353
contig referenceGLeu [L]353
114713933411 rs1207807641 N.D. synonymousCLeu [L]153
contig referenceTLeu [L]153
114713943401 rs1370520807 N.D. synonymousGGlu [E]349
contig referenceAGlu [E]349
114713945399 rs746572499 0.000 missenseALys [K]149
contig referenceGGlu [E]149
114713948396 rs1444063606 N.D. missenseASer [S]148
contig referenceGGly [G]148
114713949395 rs901561299 N.D. synonymousCAsp [D]347
contig referenceTAsp [D]347
114713950394 rs1383166562 N.D. missenseCAla [A]247
contig referenceAAsp [D]247
114713952392 rs770739171 0.000 synonymousCIle [I]346
contig referenceAIle [I]346
114713954390 rs976902496 N.D. missenseGVal [V]146
contig referenceAIle [I]146
114713958386 rs1437377780 N.D. synonymousAVal [V]344
contig referenceGVal [V]344
114713973371 rs780800228 0.000 synonymousGSer [S]339
contig referenceTSer [S]339
114713974370 rs139287106 N.D. YesmissenseTPhe [F]239
contig referenceCSer [S]239
114716057358 rs1482529842 N.D. missenseTIle [I]235
contig referenceCThr [T]235
114716059356 rs1210648980 N.D. synonymousGPro [P]334
contig referenceCPro [P]334
114716065350 rs1466940118 N.D. synonymousCTyr [Y]332
contig referenceTTyr [Y]332
114716068347 rs1274842204 N.D. synonymousGGlu [E]331
contig referenceAGlu [E]331
114716074341 rs748537067 0.000 synonymousGVal [V]329
contig referenceAVal [V]329
114716076339 rs772665803 0.000 missenseAIle [I]129
contig referenceGVal [V]129
114716077338 rs1328445116 N.D. synonymousCPhe [F]328
contig referenceTPhe [F]328
114716084331 rs773404559 0.000 missenseGSer [S]226
contig referenceAAsn [N]226
114716086329 rs570328042 0.000With1000GenomeData0.0002 synonymousAGln [Q]325
contig referenceGGln [Q]325
114716092323 rs771113899 0.000 synonymousGLeu [L]323
contig referenceALeu [L]323
114716095320 rs868515153 N.D. synonymousAGln [Q]322
contig referenceGGln [Q]322
114716097318 rs1178238823 N.D. nonsenseT122
contig referenceCGln [Q]122
114716111304 rs1357368437 N.D. frame shift-Thr [T]217
contig referenceGSer [S]217
114716116299 rs769226183 N.D. synonymousCGly [G]315
contig referenceGGly [G]315
114716119295 rs867298971 N.D.byCluster frame shift(16bp)Leu [L]215
contig reference-Gly [G]215
114716119296 rs1433972399 N.D. synonymousCVal [V]314
contig referenceTVal [V]314
114716120295 rs1308441238 N.D. missenseGGly [G]214
contig referenceTVal [V]214
114716120294 rs1364217427 N.D. frame shift(16bp)Gly [G]114
contig reference-Val [V]114
114716125290 rs759764705 0.000byFreq synonymousGGly [G]312
contig referenceTGly [G]312
114716130285 rs1367788342 N.D. missenseAThr [T]111
contig referenceGAla [A]111
114716135278 rs751917429 0.000byFreq -39
114716152263 rs559229605 0.000With1000GenomeData0.0002 synonymousAGlu [E]33
contig referenceGGlu [E]33
114716156258 rs755334563 0.000 TGAMet [M]11
114716157258 rs1310992906 N.D. missenseTSer [S]12
contig referenceAThr [T]12