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SNP linked to Gene (geneID:6444) 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): 7
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_000337.5plus strandNP_000328.2forwardNT_023133.14GRCh38.p2<- currently shown
XM_011534621.1plus strandXP_011532923.1forwardNT_023133.14GRCh38.p2View snp on GeneModel
XM_006714911.2plus strandXP_006714974.1forwardNT_023133.14GRCh38.p2View snp on GeneModel
XM_005265967.1plus strandXP_005266024.1forwardNT_023133.14GRCh38.p2View snp on GeneModel
XM_005265966.3plus strandXP_005266023.1forwardNT_023133.14GRCh38.p2View snp on GeneModel
NM_172244.2plus strandNP_758447.1forwardNT_023133.14GRCh38.p2View snp on GeneModel
NM_001128209.1plus strandNP_001121681.1forwardNT_023133.14GRCh38.p2View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p2NT_023133.14NM_000337.5NP_000328.2forwardplus strand143, coding

Region Chr.
dbSNP rs#
cluster id
Validation MAF Allele
3D Linkout Function dbSNP
Amino acid
156329577520 rs756367674 0.000 missenseGVal [V]11
contig referenceAMet [M]11
156344496530 rs535501891 0.000With1000GenomeData0.0002 missenseCPro [P]24
contig referenceAGln [Q]24
156344500534 rs549319429 0.003byFreqWith1000GenomeData0.0014 missenseCAsp [D]35
synonymousAGlu [E]35
contig referenceGGlu [E]35
156344516550 rs566181541 0.000With1000GenomeData0.0002 missenseTTrp [W]111
contig referenceCArg [R]111
156344517551 rs752548592 0.000 missenseAGln [Q]211
contig referenceGArg [R]211
156344518552 rs756007116 0.000 synonymousAArg [R]311
contig referenceGArg [R]311
156344519553 rs367557986 0.000byCluster missenseGGly [G]112
contig referenceASer [S]112
156344539573 rs756970013 0.000 synonymousAVal [V]318
contig referenceGVal [V]318
156344541575 rs778664534 0.000 missenseAGlu [E]219
contig referenceGGly [G]219
156344544578 rs745397161 0.000 missenseTLeu [L]220
contig referenceCPro [P]220
156344546580 rs771463833 0.000 missenseALys [K]121
contig referenceCGln [Q]121
156344553587 rs776107667 0.000 missenseGCys [C]223
contig referenceATyr [Y]223
156344561595 rs769123154 0.000 missenseAArg [R]126
contig referenceGGly [G]126
156344562596 rs370189224 0.000byCluster missenseAGlu [E]226
contig referenceGGly [G]226
156344564598 rs373824540 0.000byCluster missenseGVal [V]127
contig referenceAIle [I]127
156344569603 rs1801193 0.500byClusterbyFreqWith1000GenomeData0.4854 synonymousCTyr [Y]328
contig referenceTTyr [Y]328
156344570604 rs773399590 0.000 missenseASer [S]129
contig referenceGGly [G]129
156344571605 rs763131123 0.000 missenseTVal [V]229
contig referenceGGly [G]229
156344572606 rs766362148 0.000 synonymousAGly [G]329
contig referenceCGly [G]329
156344576610 rs202223676 0.147byClusterbyFreq missenseGGly [G]131
missenseTTrp [W]131
contig referenceCArg [R]131
156344577611 rs200476861 0.000byCluster missenseAGln [Q]231
contig referenceGArg [R]231
156344579613 rs757073458 0.003 missenseGGlu [E]132
contig referenceALys [K]132
156344582616 rs778760498 0.000 nonsenseT133
contig referenceCArg [R]133
156344584618 rs745487169 0.000 synonymousTArg [R]333
contig referenceAArg [R]333
156344586620 rs757994622 0.000 missenseCSer [S]234
contig referenceGCys [C]234
156344597631 rs750206304 N.D. missenseCLeu [L]138
contig referenceTPhe [F]138
156344606640 rs769047953 0.000 missenseTPhe [F]141
contig referenceCLeu [L]141
156344610644 rs770112094 0.000 missenseCPro [P]242
contig referenceTLeu [L]242
156344626660 rs773487589 0.000 synonymousALeu [L]347
contig referenceGLeu [L]347
156344627661 rs556208970 0.000With1000GenomeData0.0002 missenseTLeu [L]148
contig referenceGVal [V]148
156344635669 rs774295723 0.000 synonymousALeu [L]350
contig referenceGLeu [L]350
156344645679 rs200671745 0.000byClusterWith1000GenomeData0.0002 missenseGVal [V]154
contig referenceAIle [I]154
156344664698 rs764153825 0.000 missenseCThr [T]260
contig referenceTMet [M]260
156344675709 rs753808210 0.000 missenseGVal [V]164
contig referenceAIle [I]164
156344676710 rs376780156 0.000byCluster missenseCThr [T]264
contig referenceTIle [I]264
156508602713 rs769883857 0.000 missenseGGly [G]265
contig referenceAAsp [D]265
156508611722 rs773178043 0.000 missenseCAla [A]268
contig referenceGGly [G]268
156508620731 rs776240936 0.000byCluster missenseCThr [T]271
contig referenceGArg [R]271
156508634745 rs376659221 0.000byCluster missenseCArg [R]176
missenseTCys [C]176
contig referenceGGly [G]176
156508645756 rs759198194 0.000 synonymousGLeu [L]379
contig referenceALeu [L]379
156508651762 rs779825787 0.000 synonymousGGly [G]381
contig referenceAGly [G]381
156508663774 rs529830918 0.000With1000GenomeData0.0002 synonymousTPhe [F]385
contig referenceCPhe [F]385
156508666777 rs755568661 0.000 synonymousGLeu [L]386
contig referenceALeu [L]386
156508672783 rs201071631 0.000byClusterWith1000GenomeData0.0002 synonymousAPro [P]388
contig referenceTPro [P]388
156508673784 rs754342073 0.000 missenseGVal [V]189
contig referenceCLeu [L]189
156508675786 rs61742484 0.480byFreq synonymousTLeu [L]389
contig referenceCLeu [L]389
156508678789 rs749273088 0.000 synonymousTTyr [Y]390
contig referenceCTyr [Y]390
156508678789 rs756724874 0.000 -391
156508679790 rs768114319 N.D. missenseAThr [T]191
contig referenceGAla [A]191
156508690801 rs779325208 0.000 synonymousTIle [I]394
contig referenceCIle [I]394
156508696807 rs746179885 0.000 synonymousASer [S]396
contig referenceCSer [S]396
156508697808 rs758700138 0.000 nonsenseT197
contig referenceCArg [R]197
156508698809 rs45559835 0.037byClusterbyFreqWith1000GenomeData0.0190 missenseAGln [Q]297
contig referenceGArg [R]297
156589236819 rs747229389 0.000 synonymousCAsn [N]3100
contig referenceTAsn [N]3100
156589245828 rs1134822 N.D. synonymousTTyr [Y]3103
contig referenceCTyr [Y]3103
156589267850 rs755068992 0.000 missenseTSer [S]1111
contig referenceAThr [T]1111
156589276859 rs760206240 0.000 missenseGVal [V]1114
contig referenceAIle [I]1114
156589288871 rs748107425 0.000 missenseGGlu [E]1118
contig referenceCGln [Q]1118
156589290873 rs770930747 0.000 missenseTHis [H]3118
contig referenceGGln [Q]3118
156589298881 rs778769190 0.000 missenseGGly [G]2121
contig referenceTVal [V]2121
156589306889 rs745708013 0.000 nonsenseT1124
contig referenceCGln [Q]1124
156589314897 rs771827103 0.000 missenseGMet [M]3126
contig referenceAIle [I]3126
156594932902 rs756122536 0.000 missenseAAsp [D]2128
contig referenceGGly [G]2128
156594933903 rs778865364 0.000 synonymousCGly [G]3128
contig referenceTGly [G]3128
156594935905 rs75282125 N.D.byCluster missenseAGln [Q]2129
contig referenceCPro [P]2129
156594936906 rs80066854 0.500 synonymousCPro [P]3129
contig referenceAPro [P]3129
156594946916 rs746717495 0.000 missenseCGln [Q]1133
contig referenceGGlu [E]1133
156594948918 rs768389032 0.000 missenseCAsp [D]3133
contig referenceAGlu [E]3133
156594950920 rs776098396 0.000 missenseTVal [V]2134
contig referenceCAla [A]2134
156594951921 rs190935424 0.002byClusterbyFreqWith1000GenomeData0.0010 synonymousCAla [A]3134
contig referenceTAla [A]3134
156594954924 rs569852808 0.000byClusterWith1000GenomeData0.0002 synonymousCTyr [Y]3135
contig referenceTTyr [Y]3135
156594994964 rs773913280 0.000 missenseGVal [V]1149
contig referenceCLeu [L]1149
156595001971 rs766924806 0.000 missenseTPhe [F]2151
contig referenceCSer [S]2151
156595007977 rs752000538 0.000 missenseGGly [G]2153
contig referenceAAsp [D]2153
156595010980 rs759767804 0.000 missenseGSer [S]2154
contig referenceAAsn [N]2154
156595017987 rs767826496 0.000 missenseCAsp [D]3156
contig referenceAGlu [E]3156
156595021991 rs752828581 0.000 missenseAIle [I]1158
contig referenceGVal [V]1158
156595024994 rs370327314 N.D. missenseAIle [I]1159
contig referenceGVal [V]1159
156595026996 rs756287798 0.000 synonymousGVal [V]3159
contig referenceAVal [V]3159
1565950371007 rs777821711 0.000 missenseTIle [I]2163
contig referenceGArg [R]2163
1566474681026 rs10071079 0.014byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0070 synonymousAAla [A]3169
contig referenceGAla [A]3169
1566474711029 rs368838376 0.001byClusterbyFreqWith1000GenomeData0.0006 synonymousAGlu [E]3170
contig referenceGGlu [E]3170
1566474721030 rs764237334 0.000 missenseASer [S]1171
contig referenceGGly [G]1171
1566474771035 rs753952200 0.000 synonymousGThr [T]3172
contig referenceAThr [T]3172
1566474811039 rs778724633 0.000 frame shift-Ser [S]1174
contig referenceTPhe [F]1174
1566474941052 rs757279786 0.000 missenseCThr [T]2178
contig referenceTIle [I]2178
1566475041062 rs200451694 0.000byClusterWith1000GenomeData0.0002 synonymousGPro [P]3181
contig referenceTPro [P]3181
1566475081066 rs751421543 0.000 missenseAIle [I]1183
contig referenceGVal [V]1183
1566475201078 rs769250018 N.D. missenseAThr [T]1187
contig referenceCPro [P]1187
1566475271085 rs538002169 0.000With1000GenomeData0.0002 missenseGArg [R]2189
contig referenceALys [K]2189
1566475341092 rs780862246 0.000 synonymousGLeu [L]3191
contig referenceALeu [L]3191
1567575821096 rs776813977 0.000 synonymousCLeu [L]1193
contig referenceTLeu [L]1193
1567575871101 rs761921165 0.000 synonymousAGlu [E]3194
contig referenceGGlu [E]3194
1567575901104 rs765228244 0.000 synonymousTSer [S]3195
contig referenceCSer [S]3195
1567575971111 rs561825515 0.000With1000GenomeData0.0002 synonymousAArg [R]1198
contig referenceCArg [R]1198
1567575981112 rs750459196 0.000 missenseAGln [Q]2198
contig referenceGArg [R]2198
1567575991113 rs754875886 0.000 synonymousTArg [R]3198
contig referenceGArg [R]3198
1567576061120 rs35375939 N.D. frame shift-1201
contig referenceGVal [V]1201
1567576141128 rs767446654 0.000 synonymousAGlu [E]3203
contig referenceGGlu [E]3203
1567576271141 rs752456672 0.000 missenseAMet [M]1208
contig referenceGVal [V]1208
1567576321146 rs755948768 0.000 missenseTAsp [D]3209
contig referenceAGlu [E]3209
1567576351149 rs763051644 0.000 synonymousTIle [I]3210
contig referenceCIle [I]3210
1567576361150 rs527801800 0.000With1000GenomeData0.0002 missenseCHis [H]1211
contig referenceAAsn [N]1211
1567576381152 rs756882037 0.000 missenseGLys [K]3211
contig referenceTAsn [N]3211
1567576471161 rs778303434 0.000 synonymousCAla [A]3214
contig referenceTAla [A]3214
1567576551169 rs745321598 0.000 missenseCThr [T]2217
contig referenceTMet [M]2217
1567576741188 rs772491019 0.000 synonymousGThr [T]3223
contig referenceAThr [T]3223
1567576861200 rs748188247 0.000 frame shift-Asn [N]3228
contig referenceGGlu [E]3228
1567576991213 rs780562365 0.000 missenseAArg [R]1232
contig referenceGGly [G]1232
1567577001214 rs747423822 0.000 missenseAGlu [E]2232
contig referenceGGly [G]2232
1567577021216 rs768979513 0.000 missenseALys [K]1233
contig referenceGGlu [E]1233
1567592251227 rs761623268 0.000 synonymousGLeu [L]3236
contig referenceALeu [L]3236
1567592321234 rs373871327 N.D. missenseAThr [T]1239
contig referenceGAla [A]1239
1567592331235 rs377153196 0.000byCluster missenseTVal [V]2239
contig referenceCAla [A]2239
1567592341236 rs145430692 0.000byClusterWith1000GenomeData synonymousAAla [A]3239
contig referenceGAla [A]3239
1567592381240 rs757914401 0.000 missenseGVal [V]1241
contig referenceAIle [I]1241
1567592431245 rs765862745 0.000 missenseCSer [S]3242
contig referenceGArg [R]3242
1567592451247 rs773477845 0.000 ACCPro [P]2244
1567592591261 rs755509278 0.000 missenseTTyr [Y]1248
contig referenceCHis [H]1248
1567592661268 rs781628137 0.000 missenseTPhe [F]2250
contig referenceCSer [S]2250
1567592721274 rs199520526 0.000byCluster missenseTMet [M]2252
contig referenceCThr [T]2252
1567592731275 rs756467431 0.000 synonymousAThr [T]3252
contig referenceGThr [T]3252
1567592781280 rs372607729 0.000byCluster missenseTIle [I]2254
contig referenceCThr [T]2254
1567592841286 rs578056399 0.000With1000GenomeData0.0002 missenseTMet [M]2256
contig referenceCThr [T]2256
1567592851287 rs376141942 0.000byCluster synonymousAThr [T]3256
contig referenceGThr [T]3256
1567592881290 rs774579663 0.000 synonymousAArg [R]3257
contig referenceGArg [R]3257
1567592971299 rs745905613 0.000 synonymousGVal [V]3260
contig referenceCVal [V]3260
1567593001302 rs768741617 0.000 synonymousTPhe [F]3261
contig referenceCPhe [F]3261
1567593091311 rs367616773 0.000byCluster synonymousTCys [C]3264
contig referenceCCys [C]3264
1567593101312 rs772185467 0.000byCluster missenseAIle [I]1265
contig referenceGVal [V]1265
1567593151317 rs371850230 0.000byCluster synonymousTCys [C]3266
contig referenceCCys [C]3266
1567593161318 rs772799792 0.000 missenseAThr [T]1267
contig referenceGAla [A]1267
1567593201322 rs762681488 0.000 missenseGSer [S]2268
contig referenceAAsn [N]2268
1567593341336 rs375029639 0.000byClusterWith1000GenomeData0.0002 synonymousTLeu [L]1273
contig referenceCLeu [L]1273
1567593351337 rs751089534 0.000 missenseAGln [Q]2273
contig referenceTLeu [L]2273
1567593361338 rs563686455 0.000With1000GenomeData0.0002 synonymousTLeu [L]3273
contig referenceGLeu [L]3273
1567593381340 rs768051118 0.000 missenseTPhe [F]2274
contig referenceCSer [S]2274
1567593491351 rs753240054 0.000 missenseAThr [T]1278
missenseTSer [S]1278
contig referenceGAla [A]1278
1567593521354 rs778210302 0.000 missenseAArg [R]1279
contig referenceGGly [G]1279
1567593581360 rs369434183 0.000byCluster missenseGAla [A]1281
contig referenceAThr [T]1281
1567593671369 rs745997663 0.000 missenseTLeu [L]1284
contig referenceAIle [I]1284
1567593681370 rs772247898 0.000 missenseCThr [T]2284
contig referenceTIle [I]2284
1567593691371 rs767778336 N.D. missenseGMet [M]3284
contig referenceAIle [I]3284

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