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SNP linked to Gene (geneID:8398) 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): 8
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_003560.2minus strandNP_003551.2reverseNT_011520.13GRCh38<- currently shown
XM_006724332.1minus strandXP_006724395.1reverseNT_011520.13GRCh38View snp on GeneModel
XM_005261771.2minus strandXP_005261828.1reverseNT_011520.13GRCh38View snp on GeneModel
XM_005261766.1minus strandXP_005261823.1reverseNT_011520.13GRCh38View snp on GeneModel
XM_005261765.1minus strandXP_005261822.1reverseNT_011520.13GRCh38View snp on GeneModel
XM_005261764.1minus strandXP_005261821.1reverseNT_011520.13GRCh38View snp on GeneModel
NM_001199562.1minus strandNP_001186491.1reverseNT_011520.13GRCh38View snp on GeneModel
NM_001004426.1minus strandNP_001004426.1reverseNT_011520.13GRCh38View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38NT_011520.13NM_003560.2NP_003551.2reverseminus strand191, 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
381121642554 rs35537874 N.D. frame shift-Glu [E]3807
contig referenceC3807
381121652553 rs140758033 N.D.0.0030 missenseGArg [R]2806
contig referenceCPro [P]2806
381122042514 rs530351387 N.D.0.0002 missenseTLeu [L]2793
contig referenceGArg [R]2793
381122132505 rs149605475 N.D. missenseGCys [C]2790
contig referenceATyr [Y]2790
381122152503 rs150093048 N.D.0.0002 synonymousTIle [I]3789
contig referenceCIle [I]3789
381122272491 rs146591896 N.D.0.0004 synonymousTThr [T]3785
contig referenceCThr [T]3785
381122402478 rs376089103 N.D. missenseGGly [G]2781
contig referenceCAla [A]2781
381122412477 rs139093920 0.000 missenseAThr [T]1781
contig referenceGAla [A]1781
381122422476 rs138683183 N.D.0.0040 synonymousTAsn [N]3780
contig referenceCAsn [N]3780
381122612457 rs34184838 0.498byClusterbyFreq missenseCThr [T]2774
contig referenceGSer [S]2774
381122852433 rs201208246 0.002 missenseTMet [M]2766
contig referenceCThr [T]2766
381122952423 rs373493102 N.D. nonsenseT1763
contig referenceCGln [Q]1763
381125272389 rs544263173 N.D.0.0002 synonymousAGlu [E]3751
contig referenceGGlu [E]3751
381125402376 rs376144077 N.D. missenseAGln [Q]2747
contig referenceGArg [R]2747
381125442372 rs563222818 N.D.0.0002 missenseTSer [S]1746
contig referenceGAla [A]1746
381125462370 rs368514303 N.D. missenseAGln [Q]2745
contig referenceGArg [R]2745
381125592357 rs530348521 N.D.0.0002 missenseTTrp [W]1741
contig referenceCArg [R]1741
381125632353 rs548439730 N.D.0.0002 synonymousTAsp [D]3739
contig referenceCAsp [D]3739
381135152310 rs368468197 N.D. missenseGArg [R]2725
contig referenceALys [K]2725
381135372288 rs371872005 N.D. missenseAThr [T]1718
contig referenceGAla [A]1718
381135572268 rs199784053 N.D.0.0002 missenseGArg [R]2711
contig referenceCPro [P]2711
381135602265 rs147455037 0.000 missenseAHis [H]2710
contig referenceGArg [R]2710
381135842241 rs375566643 N.D. missenseGArg [R]2702
contig referenceCPro [P]2702
381135852240 rs546061827 N.D.0.0002 missenseTSer [S]1702
contig referenceCPro [P]1702
381135862239 rs369816711 N.D. synonymousAVal [V]3701
contig referenceGVal [V]3701
381136002225 rs148494213 0.000 missenseTTrp [W]1697
contig referenceAArg [R]1697
381136212204 rs141777179 N.D.0.0002 missenseAIle [I]1690
contig referenceGVal [V]1690
381136372188 rs531895866 N.D.0.0002 synonymousAVal [V]3684
contig referenceGVal [V]3684
381136402185 rs201346537 N.D.0.0002 missenseCAsn [N]3683
contig referenceGLys [K]3683
381136502175 rs199950260 N.D.0.0002 missenseGArg [R]2680
contig referenceAGln [Q]2680
381155312166 rs369038599 N.D. missenseTLeu [L]2677
contig referenceGArg [R]2677
381155332164 rs561645994 N.D.0.0002 missenseGMet [M]3676
contig referenceCIle [I]3676
381155462151 rs369680655 N.D. missenseGSer [S]2672
contig referenceAAsn [N]2672
381155632134 rs183446770 N.D.0.0002 synonymousTThr [T]3666
contig referenceCThr [T]3666
381155722125 rs376610322 N.D. synonymousCAsp [D]3663
contig referenceTAsp [D]3663
381155772120 rs12627857 N.D.withHapMapFreq synonymousTLeu [L]1662
contig referenceCLeu [L]1662
381155782119 rs150572286 0.001byFreq synonymousAThr [T]3661
contig referenceGThr [T]3661
381155822115 rs547175863 N.D.0.0002 missenseGArg [R]2660
contig referenceCPro [P]2660
381155842113 rs201727354 N.D.0.0002 synonymousTAsn [N]3659
contig referenceCAsn [N]3659
381156352062 rs533490649 N.D.0.0002 synonymousAThr [T]3642
contig referenceTThr [T]3642
381156592038 rs377488420 N.D. synonymousGAla [A]3634
contig referenceCAla [A]3634
381156622035 rs200280060 N.D.0.0002 synonymousAAla [A]3633
contig referenceGAla [A]3633
381156632034 rs201657455 N.D. missenseGGly [G]2633
contig referenceCAla [A]2633
381156662031 rs370975770 N.D. missenseAGln [Q]2632
contig referenceGArg [R]2632
381161051985 rs139579057 N.D. missenseAIle [I]1617
contig referenceGVal [V]1617
381161081981 rs34112430 N.D. frame shiftT3616
contig reference-Asn [N]3616
381161191971 rs200117092 N.D.byCluster missenseTLeu [L]2612
contig referenceGArg [R]2612
381161291961 rs199540781 N.D. missenseTTrp [W]1609
contig referenceCArg [R]1609
381161551935 rs149712244 0.000byCluster missenseAGln [Q]2600
contig referenceGArg [R]2600
381161561934 rs368008077 N.D. missenseTTrp [W]1600
contig referenceCArg [R]1600
381162081882 rs146697329 0.000 synonymousAVal [V]3582
contig referenceGVal [V]3582
381207691868 rs139186982 0.000 missenseGGly [G]1578
contig referenceAArg [R]1578
381207731864 rs564308214 N.D.0.0002 synonymousTAsp [D]3576
contig referenceCAsp [D]3576
381207761861 rs200599704 N.D.0.0004 synonymousAThr [T]3575
contig referenceGThr [T]3575
381207771860 rs144012369 0.002byFreq missenseTMet [M]2575
contig referenceCThr [T]2575
381207841853 rs369470098 N.D. missenseGGlu [E]1573
contig referenceALys [K]1573
381208051832 rs549902731 N.D.0.0002 missenseTTrp [W]1566
contig referenceCArg [R]1566
381208121825 rs146415291 0.000 missenseGLeu [L]3563
contig referenceCPhe [F]3563
381208181819 rs149015861 0.000 synonymousAGlu [E]3561
contig referenceGGlu [E]3561
381208511786 rs374315286 N.D. synonymousAArg [R]3550
contig referenceGArg [R]3550
381208521785 rs376051062 N.D. missenseAGln [Q]2550
contig referenceGArg [R]2550
381208811756 rs527807604 N.D. missenseAIle [I]3540
contig referenceGMet [M]3540
381208861751 rs143826762 N.D.0.0006 missenseASer [S]1539
contig referenceGGly [G]1539
381208871750 rs373930150 N.D. synonymousTArg [R]3538
contig referenceCArg [R]3538
381208881749 rs535486098 N.D.0.0002 missenseAHis [H]2538
contig referenceGArg [R]2538
381208891748 rs370691849 N.D. missenseTCys [C]1538
contig referenceCArg [R]1538
381208931744 rs183978140 N.D.0.0002 synonymousTTyr [Y]3536
contig referenceCTyr [Y]3536
381231391683 rs151108668 N.D.0.0004 missenseTVal [V]2516
contig referenceCAla [A]2516
381231741648 rs201161254 N.D.0.0002 synonymousASer [S]3504
contig referenceGSer [S]3504
381231911631 rs141045127 0.001 missenseAThr [T]1499
contig referenceGAla [A]1499
381232001622 rs368487831 N.D. missenseTPhe [F]1496
contig referenceCLeu [L]1496
381232041618 rs573146214 N.D.0.0002 synonymousTIle [I]3494
contig referenceCIle [I]3494
381263711563 rs146684391 0.001byClusterbyFreq missenseTIle [I]2476
contig referenceCThr [T]2476
381263741560 rs139184008 0.000byCluster missenseAGln [Q]2475
contig referenceGArg [R]2475
381263821552 rs199714835 N.D.0.0002 synonymousTAsp [D]3472
contig referenceCAsp [D]3472
381263841550 rs375874092 N.D. missenseAAsn [N]1472
contig referenceGAsp [D]1472
381263901544 rs201801144 N.D.0.0002 missenseGVal [V]1470
contig referenceAMet [M]1470
381264071527 rs376801641 N.D. missenseTVal [V]2464
contig referenceCAla [A]2464
381264161518 rs541466301 N.D.0.0002 missenseAGln [Q]2461
contig referenceGArg [R]2461
381264171517 rs76718524 N.D.0.0002 missenseTTrp [W]1461
contig referenceCArg [R]1461
381264261508 rs147043645 0.000 missenseCPro [P]1458
contig referenceTSer [S]1458
381264271507 rs138139283 0.000 synonymousTIle [I]3457
contig referenceCIle [I]3457
381264411493 rs533352113 N.D.0.0002 missenseAAsn [N]1453
contig referenceGAsp [D]1453
381282891464 rs375740918 N.D. missenseTLeu [L]2443
contig referenceCPro [P]2443
381283301423 rs183891529 N.D.0.0002 synonymousAAla [A]3429
contig referenceGAla [A]3429
381283311422 rs188895903 N.D.0.0002 missenseTVal [V]2429
contig referenceCAla [A]2429
381283491404 rs199636953 N.D.byCluster YesmissenseTVal [V]2423
contig referenceCAla [A]2423
381283511402 rs202123423 0.002byCluster YessynonymousTPro [P]3422
contig referenceCPro [P]3422
381283541399 rs375896475 N.D. YessynonymousTVal [V]3421
contig referenceCVal [V]3421
381283621391 rs370873601 N.D. YesmissenseTTyr [Y]1419
contig referenceCHis [H]1419
381283831370 rs575880571 N.D. missenseALys [K]1412
contig referenceGGlu [E]1412
381283921361 rs375131619 N.D. missenseAMet [M]1409
contig referenceGVal [V]1409
381294611315 rs575898460 N.D. synonymousTIle [I]3393
contig referenceCIle [I]3393
381294901286 rs371593013 N.D. YesmissenseALys [K]1384
contig referenceGGlu [E]1384
381295041272 rs570834054 N.D.0.0002 missenseTLeu [L]2379
contig referenceCPro [P]2379
381295241252 rs538112875 N.D.0.0002 synonymousTPhe [F]3372
contig referenceCPhe [F]3372
381295321244 rs556727891 N.D.0.0002 missenseGVal [V]1370
contig referenceAIle [I]1370
381295371239 rs376497527 N.D. YesmissenseGGly [G]2368
contig referenceCAla [A]2368
381295451231 rs149554238 0.000 YesmissenseTIle [I]3365
contig referenceGMet [M]3365
381295531223 rs144168978 0.000 YesmissenseAMet [M]1363
contig referenceGVal [V]1363
381295541222 rs2413502 N.D.0.0635 YessynonymousTAsn [N]3362
contig referenceCAsn [N]3362
381328311213 rs368497893 N.D. YessynonymousASer [S]3359
contig referenceGSer [S]3359
381328491195 rs574201303 N.D.0.0002 synonymousAPro [P]3353
contig referenceGPro [P]3353
381328811163 rs11570680 N.D.0.0056 YesmissenseAThr [T]1343
contig referenceGAla [A]1343
381329061138 rs116030378 N.D.0.0002 YesmissenseGMet [M]3334
contig referenceAIle [I]3334
381329181126 rs146241431 N.D.0.0002 YessynonymousTPhe [F]3330
contig referenceCPhe [F]3330
381329361108 rs147755372 N.D.0.0012 YessynonymousAAla [A]3324
contig referenceGAla [A]3324
381329421102 rs144033740 0.002byFreq YessynonymousTHis [H]3322
contig referenceCHis [H]3322
381329451099 rs150948379 0.001 YessynonymousALeu [L]3321
contig referenceGLeu [L]3321
381329511093 rs11570679 N.D.0.0639 YessynonymousAThr [T]3319
contig referenceGThr [T]3319
381329521092 rs149653983 N.D.0.0002 YesmissenseTMet [M]2319
contig referenceCThr [T]2319
381329631081 rs145413099 0.001 YessynonymousTSer [S]3315
contig referenceCSer [S]3315
381329701074 rs561100484 N.D.0.0002 missenseTIle [I]2313
contig referenceCThr [T]2313
381329911053 rs374007706 N.D. YesmissenseAGln [Q]2306
contig referenceGArg [R]2306
381330071037 rs367854265 N.D. YesmissenseTCys [C]1301
contig referenceCArg [R]1301
381330101034 rs528966598 N.D.0.0006 missenseAThr [T]1300
contig referenceGAla [A]1300
381349941024 rs201078358 0.002byCluster YessynonymousTAsn [N]3296
contig referenceCAsn [N]3296
381350131005 rs369017644 N.D. YesmissenseTLeu [L]2290
contig referenceCPro [P]2290
38135021997 rs571061407 N.D.0.0002 synonymousTGly [G]3287
contig referenceAGly [G]3287
38135028990 rs372511574 N.D. YesmissenseAHis [H]2285
contig referenceGArg [R]2285
38135029989 rs201190836 N.D.0.0002 YesmissenseTCys [C]1285
contig referenceCArg [R]1285
38135033985 rs556692860 N.D.0.0002 synonymousTAsp [D]3283
contig referenceCAsp [D]3283
38135050968 rs575417206 N.D.0.0002 nonsenseT1278
contig referenceCGln [Q]1278
38135078940 rs149216110 N.D. YessynonymousAAla [A]3268
contig referenceGAla [A]3268
38139983932 rs146865427 0.001 YesmissenseAArg [R]1266
contig referenceGGly [G]1266
38139987928 rs528258431 N.D.0.0002 synonymousAGln [Q]3264
contig referenceGGln [Q]3264
38139993922 rs546742857 N.D.0.0002 synonymousTPhe [F]3262
contig referenceCPhe [F]3262
38140005910 rs565259549 N.D.0.0002 synonymousASer [S]3258
contig referenceGSer [S]3258
38140006909 rs147924368 N.D.0.0004 YesmissenseTLeu [L]2258
contig referenceCSer [S]2258
38140042873 rs550573268 N.D.0.0002 missenseATyr [Y]2246
contig referenceGCys [C]2246
38140046869 rs141685950 0.000 YesmissenseTTrp [W]1245
contig referenceCArg [R]1245
38140056859 rs377363906 N.D. YessynonymousCLeu [L]3241
contig referenceGLeu [L]3241
38140065850 rs370906628 N.D. YessynonymousAVal [V]3238
contig referenceGVal [V]3238
38140069846 rs147066967 0.001byClusterbyFreq YesmissenseAHis [H]2237
contig referenceGArg [R]2237
38140142773 rs148106655 0.000 YesmissenseGVal [V]1213
contig referenceCLeu [L]1213
38140147768 rs568900605 N.D.0.0002 missenseGGly [G]2211
contig referenceCAla [A]2211
38140154761 rs140938545 0.000 YesmissenseAThr [T]1209
contig referenceGAla [A]1209
38140155760 rs536593896 N.D.0.0002 synonymousTAsn [N]3208
contig referenceCAsn [N]3208
38143113737 rs559649646 N.D.0.0002 missenseTLeu [L]1201
contig referenceGVal [V]1201
38143114736 rs568988726 N.D. synonymousAGln [Q]3200
contig referenceGGln [Q]3200
38143150700 rs185396488 N.D.0.0006 YessynonymousTThr [T]3188
contig referenceCThr [T]3188
38143153697 rs201800359 N.D.0.0002 YessynonymousAGlu [E]3187
contig referenceGGlu [E]3187
38143157693 rs373868871 N.D. YesmissenseAGlu [E]2186
contig referenceGGly [G]2186
38143167683 rs11570646 N.D. missenseAAsn [N]1183
contig referenceGAsp [D]1183
38143179671 rs537416522 N.D. missenseGVal [V]1179
contig referenceAMet [M]1179
38143219631 rs150190277 N.D.0.0048 synonymousCGly [G]3165
contig referenceGGly [G]3165
38143267583 rs368631309 N.D. YessynonymousTAsn [N]3149
contig referenceCAsn [N]3149
38143273577 rs371920697 N.D. YessynonymousAAla [A]3147
contig referenceGAla [A]3147
38143275575 rs138672490 N.D.0.0002 YesmissenseAThr [T]1147
contig referenceGAla [A]1147
38143280570 rs531976631 N.D. missenseGSer [S]2145
contig referenceAAsn [N]2145
38145438561 rs12157473 0.014byClusterbyFreqwithHapMapFreq YesmissenseTIle [I]2142
contig referenceGSer [S]2142
38145447552 rs141825182 0.001byClusterbyFreq YesmissenseAHis [H]2139
contig referenceGArg [R]2139
38145448551 rs369811878 N.D. YesmissenseTCys [C]1139
contig referenceCArg [R]1139
38145453546 rs200831061 N.D. YesmissenseCPro [P]2137
contig referenceAHis [H]2137
38145456543 rs201339748 N.D.0.0002 YesmissenseGArg [R]2136
missenseTLeu [L]2136
contig referenceAHis [H]2136
38145457542 rs566979554 N.D. missenseTTyr [Y]1136
contig referenceCHis [H]1136
38145461538 rs200522242 N.D.0.0004 YessynonymousTCys [C]3134
contig referenceCCys [C]3134
38145465534 rs534704447 N.D.0.0002 missenseGGly [G]2133
contig referenceAGlu [E]2133
38145466533 rs552737662 N.D.0.0002 missenseALys [K]1133
contig referenceGGlu [E]1133
38145467532 rs146252218 0.001byFreq YessynonymousTArg [R]3132
contig referenceCArg [R]3132
38145477522 rs374746113 N.D. YesmissenseCPro [P]2129
contig referenceTLeu [L]2129
38145514485 rs368912554 N.D. missenseTTyr [Y]1117
contig referenceCHis [H]1117
38145519480 rs138040351 0.000 missenseAHis [H]2115
contig referenceGArg [R]2115
38145529470 rs373450648 N.D. missenseAAsn [N]1112
contig referenceGAsp [D]1112
38145538461 rs142530390 N.D.0.0002 missenseGAsp [D]1109
contig referenceCHis [H]1109
38145581418 rs57170315 N.D. missenseALeu [L]394
contig referenceCPhe [F]394
38145597402 rs142715413 N.D.0.0008 missenseATyr [Y]289
contig referenceCSer [S]289
38145626373 rs143953199 0.001byFreq synonymousTAsp [D]379
contig referenceCAsp [D]379
38145637362 rs201134327 0.002 synonymousCLeu [L]176
contig referenceTLeu [L]176
38169218345 rs11570607 N.D. missenseAGln [Q]270
contig referenceGArg [R]270
38169240323 rs11570606 N.D.0.0036 missenseGGly [G]163
contig referenceAArg [R]163
38169242321 rs377025797 N.D. missenseTLeu [L]262
contig referenceCPro [P]262
38169255308 rs11570605 N.D.0.0124 missenseAIle [I]158
contig referenceGVal [V]158
38169256307 rs150718378 N.D.0.0006 synonymousTCys [C]357
contig referenceCCys [C]357
38169269294 rs141050017 N.D.0.0002 missenseAHis [H]253
missenseTLeu [L]253
contig referenceGArg [R]253
38169270293 rs370151752 N.D. missenseTCys [C]153
contig referenceCArg [R]153
38169273290 rs374865010 N.D. missenseGAsp [D]152
contig referenceAAsn [N]152
38169281282 rs149307023 N.D.0.0002 missenseGSer [S]249
contig referenceAAsn [N]249
38169298265 rs555601622 N.D.0.0002 missenseCHis [H]343
contig referenceGGln [Q]343
38169311252 rs144910769 0.000byCluster missenseAGln [Q]239
contig referenceGArg [R]239
38169317246 rs374310914 N.D.0.0002 missenseAGln [Q]237
contig referenceGArg [R]237
38169323240 rs200683835 0.002 missenseAAsn [N]235
contig referenceGSer [S]235
38169326237 rs147948449 N.D.0.0002 missenseTLeu [L]234
contig referenceCSer [S]234
38169329234 rs141776757 0.000 missenseTIle [I]233
contig referenceCThr [T]233
38169336227 rs150024227 N.D.0.0004 missenseAAsn [N]131
contig referenceGAsp [D]131
38169340223 rs2267369 N.D.0.0974 synonymousAVal [V]329
contig referenceGVal [V]329
38169359203 rs34482513 N.D. frame shiftCPro [P]123
contig reference-Arg [R]123
38169359204 rs372291638 N.D. missenseAGln [Q]223
contig referenceGArg [R]223
38169388175 rs201497785 N.D.0.0002 synonymousTGly [G]313
contig referenceCGly [G]313
38169401162 rs149163431 0.000 missenseGSer [S]29
contig referenceAAsn [N]29
38169411152 rs143250889 0.001byClusterbyFreq missenseTCys [C]16
contig referenceCArg [R]16

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