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SNP linked to Gene (geneID:6605) 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_003079.4minus strandNP_003070.3reverseNT_010783.16GRCh38.p2<- currently shown

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p2NT_010783.16NM_003079.4NP_003070.3reverseminus strand155, 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
406287901355 rs62622817 0.008byClusterbyFreqWith1000GenomeData0.0040 nonsenseT1411
missenseALys [K]1411
contig referenceGGlu [E]1411
406287951350 rs770346178 0.000byFreq missenseGArg [R]2409
contig referenceALys [K]2409
406288021343 rs139178605 0.000byCluster missenseAAsn [N]1407
missenseTTyr [Y]1407
contig referenceGAsp [D]1407
406288081337 rs767835921 0.000 missenseGAla [A]1405
contig referenceCPro [P]1405
406288111334 rs751165188 0.000byFreq missenseGVal [V]1404
contig referenceAIle [I]1404
406288121333 rs761485678 0.000 synonymousTPro [P]3403
contig referenceCPro [P]3403
406288351310 rs767236696 0.000byFreq missenseAMet [M]1396
contig referenceGVal [V]1396
406288441301 rs775907713 N.D. missenseGGly [G]1393
contig referenceASer [S]1393
406288481297 rs377096761 0.000byClusterbyFreq synonymousTSer [S]3391
contig referenceCSer [S]3391
406288541291 rs755995632 0.000byFreq synonymousASer [S]3389
synonymousCSer [S]3389
contig referenceGSer [S]3389
406288551290 rs376181802 0.000byCluster missenseTLeu [L]2389
contig referenceCSer [S]2389
406288561289 rs758595837 0.000byFreq missenseCPro [P]1389
contig referenceTSer [S]1389
406288571288 rs573977743 0.000With1000GenomeData0.0002 synonymousAGly [G]3388
contig referenceCGly [G]3388
406288691276 rs747192638 0.000 synonymousCAsp [D]3384
contig referenceTAsp [D]3384
406288881257 rs771281023 0.000byFreq missenseTVal [V]2378
contig referenceCAla [A]2378
406288921253 rs781353760 0.000 missenseGVal [V]1377
contig referenceAMet [M]1377
406288981247 rs746301638 0.000 missenseAAsn [N]1375
contig referenceGAsp [D]1375
406288991246 rs144057094 0.000byCluster synonymousTVal [V]3374
contig referenceCVal [V]3374
406289051240 rs370706896 N.D. synonymousAGlu [E]3372
contig referenceGGlu [E]3372
406289111234 rs146475742 0.000byCluster synonymousAGly [G]3370
contig referenceGGly [G]3370
406289201225 rs148666451 0.001byClusterbyFreqWith1000GenomeData0.0004 synonymousALys [K]3367
contig referenceGLys [K]3367
406289221223 rs768116351 0.000 missenseCGln [Q]1367
contig referenceALys [K]1367
406289261219 rs773859296 0.000byFreq missenseCAsp [D]3365
synonymousAGlu [E]3365
contig referenceGGlu [E]3365
406289321213 rs767262463 0.000 synonymousCThr [T]3363
contig referenceTThr [T]3363
406289371208 rs750183985 0.000 missenseCPro [P]1362
contig referenceTSer [S]1362
406289381207 rs760555858 0.000byFreq synonymousAThr [T]3361
contig referenceGThr [T]3361
406289391206 rs766200637 0.000 missenseTMet [M]2361
contig referenceCThr [T]2361
406289421203 rs142193069 0.001byClusterbyFreqWith1000GenomeData0.0004 missenseAAsp [D]2360
contig referenceGGly [G]2360
406289431200 rs765354113 N.D. -2359
406289541191 rs151220618 0.001byClusterbyFreq missenseGSer [S]2356
contig referenceAAsn [N]2356
406289791166 rs754993965 0.000byFreq missenseALys [K]1348
contig referenceGGlu [E]1348
406289851160 rs751700497 0.000 missenseTTyr [Y]1346
contig referenceCHis [H]1346
406307161149 rs367908836 0.000byCluster missenseGArg [R]2342
contig referenceCThr [T]2342
406307221143 rs746602244 0.000byFreq missenseCThr [T]2340
contig referenceTMet [M]2340
406307241141 rs372446330 0.000byClusterbyFreq synonymousAPro [P]3339
contig referenceGPro [P]3339
406307281137 rs776552071 0.000 missenseCThr [T]2338
contig referenceTIle [I]2338
406307291136 rs759470808 0.000 missenseGVal [V]1338
contig referenceAIle [I]1338
406307311134 rs765235194 0.000 missenseGSer [S]2337
contig referenceAAsn [N]2337
406307351130 rs377136485 0.000byClusterbyFreq missenseALys [K]1336
missenseCGln [Q]1336
contig referenceGGlu [E]1336
406307381127 rs767569116 0.000 missenseAAsn [N]1335
contig referenceGAsp [D]1335
406307391126 rs750483952 0.000byFreq synonymousTAsp [D]3334
contig referenceCAsp [D]3334
406307421123 rs372423633 0.000byClusterWith1000GenomeData0.0002 synonymousGLys [K]3333
contig referenceALys [K]3333
406307461119 rs766656583 0.000 missenseCThr [T]2332
contig referenceALys [K]2332
406307481115 rs748967613 0.000 -1331
406307511114 rs754175611 0.000 synonymousAGlu [E]3330
contig referenceGGlu [E]3330
406307531112 rs755389218 0.000byFreq missenseALys [K]1330
contig referenceGGlu [E]1330
406307541111 rs779268474 0.000 synonymousTGly [G]3329
contig referenceCGly [G]3329
406307781087 rs753203502 0.000byFreq synonymousAGlu [E]3321
contig referenceGGlu [E]3321
406307851080 rs758831830 0.000byFreq missenseCAla [A]2319
contig referenceTVal [V]2319
406307861079 rs140414666 0.001byClusterbyFreqWith1000GenomeData0.0006 missenseAIle [I]1319
contig referenceGVal [V]1319
406307871078 rs376628666 0.000byClusterbyFreq synonymousTIle [I]3318
contig referenceCIle [I]3318
406307891076 rs770612142 0.000 missenseGVal [V]1318
contig referenceAIle [I]1318
406308031062 rs201577008 0.000byClusterbyFreq missenseAHis [H]2313
missenseTLeu [L]2313
contig referenceGArg [R]2313
406308041061 rs769672368 0.000 missenseTCys [C]1313
contig referenceCArg [R]1313
406308051060 rs576652667 0.000With1000GenomeData0.0002 synonymousAGlu [E]3312
contig referenceGGlu [E]3312
406308081057 rs141470385 0.000byClusterWith1000GenomeData0.0002 synonymousCAla [A]3311
synonymousGAla [A]3311
contig referenceTAla [A]3311
406308091056 rs768536854 0.000byFreq missenseTVal [V]2311
contig referenceCAla [A]2311
406308191046 rs372988818 0.000byClusterbyFreq missenseAThr [T]1308
contig referenceGAla [A]1308
406308261037 rs770456331 0.000byFreq -1305
406308351030 rs760713355 0.000 missenseCAsp [D]3302
contig referenceAGlu [E]3302
406308421023 rs766568737 0.000 missenseGArg [R]2300
contig referenceAGln [Q]2300
406308441021 rs754006294 0.000 synonymousAArg [R]3299
contig referenceGArg [R]3299
406308471018 rs759780963 0.000byFreq synonymousGLys [K]3298
contig referenceALys [K]3298
406308521013 rs562702157 0.000With1000GenomeData0.0002 missenseTCys [C]1297
contig referenceCArg [R]1297
406308591006 rs753014603 0.000 synonymousGGlu [E]3294
contig referenceAGlu [E]3294
406308651000 rs188037270 0.000With1000GenomeData0.0002 synonymousGAla [A]3292
contig referenceAAla [A]3292
40630872993 rs758923998 0.000 missenseTVal [V]2290
contig referenceCAla [A]2290
40630881984 rs201158885 0.000byClusterWith1000GenomeData0.0002 missenseGGly [G]2287
contig referenceCAla [A]2287
40630885980 rs751048883 0.000 missenseAThr [T]1286
contig referenceGAla [A]1286
40630894971 rs147883949 0.000byCluster missenseCGln [Q]1283
contig referenceGGlu [E]1283
40630910955 rs780880269 0.000 missenseCAsn [N]3277
contig referenceALys [K]3277
40630918947 rs745448272 0.000byFreq missenseASer [S]1275
contig referenceGGly [G]1275
40630919946 rs769584665 0.000byFreq synonymousTCys [C]3274
contig referenceCCys [C]3274
40631593939 rs767080034 0.000 missenseALys [K]2272
contig referenceGArg [R]2272
40631598934 rs750013337 0.000 synonymousGLeu [L]3270
contig referenceTLeu [L]3270
40631619913 rs572351725 0.000With1000GenomeData0.0002 synonymousGThr [T]3263
contig referenceAThr [T]3263
40631639891 rs769002311 0.000 -2256
40631641891 rs542193901 0.000With1000GenomeData0.0002 missenseGArg [R]2256
contig referenceALys [K]2256
40631643889 rs749090821 0.000 synonymousALys [K]3255
contig referenceGLys [K]3255
40631646886 rs374977780 0.000byClusterbyFreq synonymousAGlu [E]3254
contig referenceGGlu [E]3254
40631656876 rs778796615 0.000 missenseAGln [Q]2251
contig referenceGArg [R]2251
40631661871 rs748008985 0.000 synonymousAGlu [E]3249
contig referenceGGlu [E]3249
40631685847 rs747447517 N.D. synonymousGLeu [L]3241
contig referenceALeu [L]3241
40631686846 rs772007304 0.000 missenseCPro [P]2241
contig referenceTLeu [L]2241
40632203830 rs745924628 0.000 missenseAIle [I]1236
contig referenceGVal [V]1236
40632209824 rs769712849 0.000 synonymousCLeu [L]1234
contig referenceTLeu [L]1234
40632213820 rs2293417 0.000byClusterbyFreq synonymousAGln [Q]3232
contig referenceGGln [Q]3232
40632217816 rs749414590 0.006byFreq missenseGGly [G]2231
contig referenceTVal [V]2231
40632223810 rs768981981 0.000 missenseAGln [Q]2229
contig referenceGArg [R]2229
40632224809 rs141619224 0.000 missenseTTrp [W]1229
contig referenceCArg [R]1229
40632234799 rs774853486 0.000byFreq synonymousAGln [Q]3225
contig referenceGGln [Q]3225
40632266767 rs376327613 0.000byClusterbyFreq missenseAIle [I]1215
contig referenceGVal [V]1215
40632267766 rs186493032 0.001byClusterbyFreqWith1000GenomeData0.0004 synonymousTAsp [D]3214
contig referenceCAsp [D]3214
40632279754 rs773810706 0.000 missenseAArg [R]3210
contig referenceTSer [S]3210
40632307726 rs761299232 0.000byFreq missenseAHis [H]2201
contig referenceGArg [R]2201
40632316717 rs75329866 N.D.byCluster missenseALys [K]2198
contig referenceGArg [R]2198
40632327706 rs765736374 0.000byFreq synonymousTAla [A]3194
contig referenceCAla [A]3194
40632329704 rs753397709 0.000 missenseAThr [T]1194
contig referenceGAla [A]1194
40632330703 rs201484943 0.000byClusterWith1000GenomeData0.0002 synonymousTThr [T]3193
contig referenceCThr [T]3193
40632347686 rs765003978 0.000byFreq missenseGVal [V]1188
contig referenceAMet [M]1188
40632360673 rs752455835 0.000 synonymousCAsp [D]3183
contig referenceTAsp [D]3183
40632364669 rs758236381 0.000 missenseTPhe [F]2182
contig referenceATyr [Y]2182
40635941655 rs377424178 0.000byClusterbyFreq synonymousGGlu [E]3177
contig referenceAGlu [E]3177
40635947649 rs773720929 0.000 synonymousCPro [P]3175
contig referenceTPro [P]3175
40635950646 rs761026520 0.000 synonymousAGln [Q]3174
contig referenceGGln [Q]3174
40635956640 rs771523560 0.000byFreq synonymousTSer [S]3172
contig referenceCSer [S]3172
40635965631 rs768018632 N.D. synonymousAPro [P]3169
contig referenceGPro [P]3169
40635966630 rs775997908 0.000byFreq missenseTLeu [L]2169
contig referenceCPro [P]2169
40635971625 rs759123413 0.000 synonymousGGly [G]3167
contig referenceAGly [G]3167
40635973623 rs764773654 0.000 missenseCArg [R]1167
contig referenceGGly [G]1167
40635982614 rs752296357 0.000byFreq missenseGVal [V]1164
contig referenceAMet [M]1164
40635984612 rs762623799 0.000byFreq missenseAHis [H]2163
missenseTLeu [L]2163
contig referenceGArg [R]2163
40635985611 rs190432371 0.000byClusterWith1000GenomeData0.0002 missenseTCys [C]1163
contig referenceCArg [R]1163
40635999597 rs757138170 0.000 missenseAGln [Q]2158
contig referenceGArg [R]2158
40636017579 rs781231331 0.000 missenseTVal [V]2152
contig referenceCAla [A]2152
40636019577 rs534177014 0.000With1000GenomeData0.0002 synonymousCAla [A]3151
contig referenceTAla [A]3151
40636029567 rs755039445 0.000byFreq missenseAHis [H]2148
contig referenceGArg [R]2148
40636030566 rs147065057 0.000 missenseTCys [C]1148
contig referenceCArg [R]1148
40636032564 rs779169160 0.000 missenseAAsn [N]2147
contig referenceGSer [S]2147
40636035561 rs748318573 0.000 missenseGArg [R]2146
contig referenceALys [K]2146
40636045551 rs772432672 0.000 missenseGVal [V]1143
contig referenceAIle [I]1143
40636058538 rs555651762 0.000With1000GenomeData0.0002 synonymousAAla [A]3138
synonymousTAla [A]3138
contig referenceGAla [A]3138
40636059537 rs747470831 0.000 missenseTVal [V]2138
contig referenceCAla [A]2138
40636060536 rs771308672 0.000byFreq missenseAThr [T]1138
contig referenceGAla [A]1138
40636061535 rs777241499 0.000byFreq synonymousTPro [P]3137
contig referenceCPro [P]3137
40636066530 rs538476076 N.D. missenseGAla [A]1136
contig referenceTSer [S]1136
40636085511 rs746386326 0.000 synonymousCSer [S]3129
contig referenceTSer [S]3129
40636086510 rs769255223 0.000byFreq missenseATyr [Y]2129
contig referenceCSer [S]2129
40636091505 rs574039127 0.000With1000GenomeData0.0002 synonymousCAsn [N]3127
contig referenceTAsn [N]3127
40636099497 rs762580699 0.000 missenseCGln [Q]1125
contig referenceGGlu [E]1125
40636395493 rs746320191 0.000byFreq synonymousALys [K]3123
contig referenceGLys [K]3123
40636407481 rs770298495 0.000byFreq synonymousTTyr [Y]3119
contig referenceCTyr [Y]3119
40636413475 rs149613910 0.001byClusterbyFreqWith1000GenomeData0.0004 YessynonymousTAsn [N]3117
contig referenceCAsn [N]3117
40636434454 rs372964610 0.000byCluster YesmissenseCAsp [D]3110
contig referenceAGlu [E]3110
40636464424 rs143363725 0.000byClusterWith1000GenomeData0.0002 YessynonymousAIle [I]3100
contig referenceTIle [I]3100
40636491397 rs774003279 0.000 synonymousGLeu [L]391
contig referenceALeu [L]391
40636500388 rs761400708 0.000 synonymousTAsn [N]388
contig referenceCAsn [N]388
40636503385 rs767272636 0.000 synonymousTSer [S]387
contig referenceCSer [S]387
40637512341 rs62066644 N.D. YesmissenseCHis [H]173
contig referenceTTyr [Y]173
40637522331 rs373563447 0.000byClusterbyFreq synonymousAPro [P]369
synonymousTPro [P]369
contig referenceGPro [P]369
40637537316 rs747774987 0.000 synonymousALys [K]364
contig referenceGLys [K]364
40637546307 rs12103928 N.D.byClusterwithHapMapFreq missenseCAsn [N]361
contig referenceALys [K]361
40637555298 rs201976136 0.002byCluster synonymousAThr [T]358
contig referenceGThr [T]358
40637561292 rs773059312 0.000byFreq synonymousCGly [G]356
contig referenceTGly [G]356
40642475260 rs11548762 N.D. missenseASer [S]146
contig referenceGGly [G]146
40642476259 rs148373393 0.001byClusterbyFreq synonymousAPro [P]345
contig referenceGPro [P]345
40642479256 rs570462841 0.000With1000GenomeData0.0002 synonymousTAsn [N]344
contig referenceCAsn [N]344
40642480255 rs761846539 0.000 missenseCThr [T]244
contig referenceAAsn [N]244
40642504231 rs767656838 0.000 missenseGCys [C]236
contig referenceATyr [Y]236
40642516203 rs777302865 0.000 frame shift-Ser [S]127
contig reference(17bp)Gly [G]127
40642521214 rs750602675 0.000 synonymousTPro [P]330
contig referenceAPro [P]330
40642525210 rs760888905 0.000 missenseGSer [S]229
contig referenceAAsn [N]229
40642542193 rs766668916 0.000 synonymousGPro [P]323
contig referenceAPro [P]323
40642551184 rs754255521 0.000 synonymousAPro [P]320
contig referenceCPro [P]320
40642554181 rs142279746 0.000byCluster missenseTIle [I]319
contig referenceGMet [M]319

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