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SNP linked to Gene (geneID:22829) 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): 12
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_014893.4plus strandNP_055708.3forwardNT_011875.13GRCh38.p2<- currently shown
XM_011531431.1plus strandXP_011529733.1forwardNT_011875.13GRCh38.p2View snp on GeneModel
XM_011531430.1plus strandXP_011529732.1forwardNT_011875.13GRCh38.p2View snp on GeneModel
XM_011531429.1plus strandXP_011529731.1forwardNT_011875.13GRCh38.p2View snp on GeneModel
XM_011531428.1plus strandXP_011529730.1forwardNT_011875.13GRCh38.p2View snp on GeneModel
XM_011531427.1plus strandXP_011529729.1forwardNT_011875.13GRCh38.p2View snp on GeneModel
XM_011531426.1plus strandXP_011529728.1forwardNT_011875.13GRCh38.p2View snp on GeneModel
XM_011531425.1plus strandXP_011529727.1forwardNT_011875.13GRCh38.p2View snp on GeneModel
XM_011531424.1plus strandXP_011529726.1forwardNT_011875.13GRCh38.p2View snp on GeneModel
XM_006724874.1plus strandXP_006724937.1forwardNT_011875.13GRCh38.p2View snp on GeneModel
NM_001206850.1plus strandNP_001193779.1forwardNT_011875.13GRCh38.p2View snp on GeneModel
NM_001164238.1plus strandNP_001157710.1forwardNT_011875.13GRCh38.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_011875.13NM_014893.4NP_055708.3forwardplus strand165, 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
14622126259 rs778106678 0.000byFreq missenseTCys [C]13
contig referenceCArg [R]13
14622127260 rs377144726 0.000byClusterbyFreq missenseAHis [H]23
contig referenceGArg [R]23
14622128261 rs770464263 0.000byFreq synonymousCArg [R]33
contig referenceTArg [R]33
14622158291 rs780844477 0.000byFreq missenseTPhe [F]313
contig referenceGLeu [L]313
14622166299 rs777437928 0.002byClusterWith1000GenomeData0.0008 missenseTPhe [F]216
contig referenceCSer [S]216
14622175308 rs769360907 0.000 missenseGGly [G]219
contig referenceTVal [V]219
14622185318 rs775628710 0.000byFreq synonymousTAsn [N]322
contig referenceCAsn [N]322
14622190323 rs749236818 0.000byFreq missenseGSer [S]224
contig referenceAAsn [N]224
14622198331 rs768615243 0.000byFreq missenseAMet [M]127
contig referenceCLeu [L]127
14622211344 rs201640492 N.D.byCluster missenseTVal [V]231
contig referenceCAla [A]231
14622248381 rs774270614 0.000byFreq synonymousCAla [A]343
contig referenceAAla [A]343
14622254387 rs761620881 0.000byFreq synonymousCTyr [Y]345
contig referenceTTyr [Y]345
14622269402 rs766542287 0.000byFreq synonymousTThr [T]350
contig referenceAThr [T]350
14622277410 rs776846897 0.000byFreq missenseAAsp [D]253
contig referenceGGly [G]253
14622296429 rs759549591 0.000byFreq synonymousGArg [R]359
contig referenceAArg [R]359
14622312445 rs765285048 0.000byFreq missenseALys [K]165
contig referenceGGlu [E]165
14622316449 rs749178206 0.005byClusterbyFreqWith1000GenomeData0.0024 missenseCThr [T]266
contig referenceTIle [I]266
14622317450 rs758871175 0.000byFreq synonymousAIle [I]366
contig referenceCIle [I]366
14622360493 rs764490872 0.000byFreq missenseAThr [T]181
contig referenceCPro [P]181
14622362495 rs751888394 0.000byFreq synonymousGPro [P]381
contig referenceCPro [P]381
14622375508 rs370684904 N.D. YesmissenseGGly [G]186
contig referenceAArg [R]186
14622380513 rs770621734 0.002byClusterWith1000GenomeData0.0008 synonymousAArg [R]387
contig referenceGArg [R]387
14622387520 rs780710831 0.000byFreq missenseTSer [S]190
contig referenceCPro [P]190
14622398531 rs745523147 0.000byFreq synonymousASer [S]393
contig referenceCSer [S]393
14622428561 rs755756054 0.000byFreq synonymousCAla [A]3103
contig referenceTAla [A]3103
14622431564 rs375241564 0.000byClusterbyFreq YessynonymousCThr [T]3104
contig referenceTThr [T]3104
14622460593 rs749291981 0.000byFreq missenseCPro [P]2114
contig referenceTLeu [L]2114
14622466599 rs768737534 0.000byFreq missenseGGly [G]2116
contig referenceAGlu [E]2116
14622468601 rs774305228 0.000byFreq missenseGGly [G]1117
contig referenceAArg [R]1117
14622489622 rs747902486 0.000 synonymousTLeu [L]1124
contig referenceCLeu [L]1124
14622537670 rs771844654 0.000 nonsenseT1140
contig referenceCGln [Q]1140
14622561694 rs776773899 0.000byFreq missenseAAsn [N]1148
contig referenceTTyr [Y]1148
14622591724 rs201827942 0.000byClusterbyFreq YesmissenseAAsn [N]1158
contig referenceGAsp [D]1158
14723127735 rs764735537 0.003byClusterbyFreqWith1000GenomeData0.0016 synonymousGGlu [E]3161
contig referenceAGlu [E]3161
14723148756 rs748839702 0.000byFreq synonymousCVal [V]3168
contig referenceTVal [V]3168
14723168776 rs754471791 0.000byFreq missenseTVal [V]2175
contig referenceGGly [G]2175
14723195803 rs778730844 0.000byFreq missenseCThr [T]2184
contig referenceTMet [M]2184
14723243851 rs748104792 0.000byFreq missenseTIle [I]2200
contig referenceCThr [T]2200
14723262870 rs771827636 0.001byFreq synonymousTGly [G]3206
contig referenceAGly [G]3206
14824197887 rs780170994 N.D. missenseAAsn [N]2212
contig referenceGSer [S]2212
14824201891 rs35394227 0.005byClusterbyFreqWith1000GenomeData0.0024 YessynonymousTThr [T]3213
contig referenceCThr [T]3213
14824205895 rs752615966 0.000 missenseAAsn [N]1215
contig referenceGAsp [D]1215
14824214904 rs758333597 0.000byFreq missenseAThr [T]1218
contig referenceGAla [A]1218
14824255945 rs777521989 0.000byFreq synonymousALeu [L]3231
contig referenceGLeu [L]3231
14824267957 rs368891956 0.000byClusterbyFreq YessynonymousAGlu [E]3235
contig referenceGGlu [E]3235
14824276966 rs372147378 0.000byClusterbyFreq YessynonymousTVal [V]3238
contig referenceCVal [V]3238
14824295985 rs752868113 0.002byClusterWith1000GenomeData0.0008 missenseTSer [S]1245
contig referenceCPro [P]1245
148243211011 rs749495741 0.000 synonymousASer [S]3253
contig referenceGSer [S]3253
148243361026 rs768661445 0.000byFreq synonymousTSer [S]3258
contig referenceCSer [S]3258
148297571091 rs759193934 0.000byFreq missenseAAsn [N]2280
contig referenceGSer [S]2280
148297641098 rs764702116 0.000byFreq synonymousCThr [T]3282
contig referenceTThr [T]3282
148297851119 rs752273385 0.000byFreq synonymousCVal [V]3289
contig referenceGVal [V]3289
148297881122 rs373751747 N.D. YessynonymousTAsn [N]3290
contig referenceCAsn [N]3290
148298111145 rs113700959 0.500 YesmissenseAGln [Q]2298
contig referenceGArg [R]2298
148298421176 rs796991900 N.D. missenseTIle [I]3308
contig referenceGMet [M]3308
148298471181 rs757806118 0.000byFreq missenseCAla [A]2310
contig referenceAAsp [D]2310
148298511185 rs61741752 0.229byFreq YessynonymousTThr [T]3311
contig referenceCThr [T]3311
148298631197 rs777767436 0.000byFreq synonymousGVal [V]3315
contig referenceAVal [V]3315
148299101244 rs367666938 0.000byClusterbyFreq YesmissenseCThr [T]2331
contig referenceTIle [I]2331
148299111245 rs757099537 0.000byFreq synonymousAIle [I]3331
contig referenceCIle [I]3331
148299131247 rs780936740 0.001byFreq missenseAAsn [N]2332
contig referenceCThr [T]2332
148299341268 rs371774177 N.D. YesmissenseAAsp [D]2339
contig referenceCAla [A]2339
148299381272 rs374907688 0.001byClusterbyFreq YessynonymousCPhe [F]3340
contig referenceTPhe [F]3340
148299421276 rs755254044 0.000 missenseTSer [S]1342
contig referenceCPro [P]1342
148299561290 rs778967683 0.000byFreq synonymousTGly [G]3346
contig referenceCGly [G]3346
148299981332 rs748268237 0.000byFreq synonymousAGly [G]3360
contig referenceCGly [G]3360
148300131347 rs771991339 0.000byFreq synonymousTTyr [Y]3365
contig referenceCTyr [Y]3365
148300161350 rs773917207 0.000byFreq synonymousTAsp [D]3366
contig referenceCAsp [D]3366
148300341368 rs747517236 0.000byFreq synonymousTAsn [N]3372
contig referenceCAsn [N]3372
148300391373 rs771460676 0.000byFreq missenseAGlu [E]2374
contig referenceGGly [G]2374
148300411375 rs777110179 0.000byFreq missenseCGln [Q]1375
contig referenceGGlu [E]1375
148300531387 rs759767514 0.000byFreq missenseAIle [I]1379
contig referenceTPhe [F]1379
148300831417 rs764970438 0.000byFreq missenseCArg [R]1389
contig referenceGGly [G]1389
148301001434 rs774938699 0.000byFreq missenseAGlu [E]3394
contig referenceCAsp [D]3394
148301251459 rs762538034 0.000 missenseAMet [M]1403
contig referenceGVal [V]1403
148301331467 rs763580497 0.000byFreq missenseALys [K]3405
contig referenceCAsn [N]3405
148301341468 rs751563403 0.000byFreq missenseAIle [I]1406
missenseTPhe [F]1406
contig referenceCLeu [L]1406
148301451479 rs767394434 0.000byFreq nonsenseA3409
contig referenceCTyr [Y]3409
148301461480 rs750249883 0.000byFreq missenseTSer [S]1410
contig referenceCPro [P]1410
148301571491 rs755798677 0.000byFreq synonymousGLys [K]3413
contig referenceALys [K]3413
148301581492 rs779212908 0.000byFreq missenseAAsn [N]1414
contig referenceGAsp [D]1414
148301991533 rs748308140 0.000byFreq missenseCCys [C]3427
contig referenceGTrp [W]3427
148302171551 rs758573848 0.000byFreq synonymousAPro [P]3433
contig referenceGPro [P]3433
148302241558 rs777972303 0.000 missenseTTrp [W]1436
contig referenceCArg [R]1436
148302251559 rs747564656 0.000 missenseAGln [Q]2436
contig referenceGArg [R]2436
148302471581 rs771583695 0.000byFreq synonymousTLeu [L]3443
contig referenceCLeu [L]3443
148302591593 rs777234513 0.001byFreq synonymousCHis [H]3447
contig referenceTHis [H]3447
148302751609 rs746244413 0.000byFreq missenseTSer [S]1453
contig referenceGAla [A]1453
148302771611 rs757047074 N.D. synonymousTAla [A]3453
contig referenceCAla [A]3453
148302781612 rs769995669 0.000byFreq missenseAMet [M]1454
contig referenceGVal [V]1454
148303061640 rs775269923 0.000byFreq missenseGCys [C]2463
contig referenceATyr [Y]2463
148303161650 rs762506704 0.000byFreq synonymousAPro [P]3466
contig referenceCPro [P]3466
148303171651 rs763631916 0.003byFreq missenseCPro [P]1467
contig referenceAThr [T]1467
148303671701 rs773875576 0.000byFreq missenseAArg [R]3483
contig referenceCSer [S]3483
148303791713 rs761273208 0.000byFreq synonymousASer [S]3487
contig referenceGSer [S]3487
148303881722 rs767447455 0.000byFreq synonymousTGly [G]3490
contig referenceCGly [G]3490
148303941728 rs750273940 0.000byFreq synonymousGGlu [E]3492
contig referenceAGlu [E]3492
148304171751 rs755998919 0.000 missenseTLeu [L]2500
contig referenceCPro [P]2500
148304331767 rs766086173 0.000byFreq synonymousCThr [T]3505
contig referenceAThr [T]3505
148304731807 rs369710665 N.D. YesmissenseAIle [I]1519
contig referenceCLeu [L]1519
148304871821 rs753006927 0.000byFreq synonymousCVal [V]3523
contig referenceGVal [V]3523
148305171851 rs72625367 N.D.byCluster YessynonymousCThr [T]3533
contig referenceTThr [T]3533
148404221863 rs760501959 0.000byFreq synonymousTAsn [N]3537
contig referenceCAsn [N]3537
148404431884 rs766248562 0.000byFreq synonymousTThr [T]3544
contig referenceCThr [T]3544
148404551896 rs753595702 0.002byFreq synonymousCHis [H]3548
contig referenceTHis [H]3548
148404601901 rs759362278 0.000 missenseCThr [T]2550
contig referenceALys [K]2550
148404671908 rs764411802 0.103byFreq synonymousCAsn [N]3552
contig referenceTAsn [N]3552
148404811922 rs751769941 0.000byFreq missenseCAla [A]2557
contig referenceTVal [V]2557
148404841925 rs757469761 0.000byFreq missenseAAsp [D]2558
contig referenceCAla [A]2558
148405031944 rs781127709 0.000byFreq synonymousGPro [P]3564
contig referenceCPro [P]3564
148405331974 rs750978351 0.002byFreq missenseTPhe [F]3574
contig referenceGLeu [L]3574
148405581999 rs200436349 0.000byClusterbyFreq YesmissenseTTrp [W]1583
contig referenceCArg [R]1583
148405882029 rs61741748 0.296byFreq YessynonymousCLeu [L]1593
contig referenceTLeu [L]1593
148405902031 rs61741749 0.271byClusterbyFreq YesmissenseCPhe [F]3593
contig referenceGLeu [L]3593
148406072048 rs780572451 0.000byFreq missenseGSer [S]2599
contig referenceAAsn [N]2599
148406252066 rs749658835 0.000byFreq missenseTLeu [L]2605
contig referenceAGln [Q]2605
148406472088 rs768951021 0.000byFreq synonymousALys [K]3612
contig referenceGLys [K]3612
148406632104 rs778599356 0.000byFreq missenseGVal [V]1618
contig referenceAMet [M]1618
148406902131 rs747797987 0.000byFreq synonymousAArg [R]1627
contig referenceCArg [R]1627
148406912132 rs771612829 0.000byFreq missenseCPro [P]2627
contig referenceGArg [R]2627
148407002141 rs772576926 0.000byFreq missenseTVal [V]2630
contig referenceCAla [A]2630
148407312172 rs760180204 0.000 synonymousGAla [A]3640
contig referenceAAla [A]3640
148407362177 rs770801788 0.000byFreq missenseAAsn [N]2642
missenseTIle [I]2642
contig referenceCThr [T]2642
148407612202 rs759413655 0.000byFreq synonymousCSer [S]3650
contig referenceTSer [S]3650
148407692210 rs374323279 0.000byClusterbyFreq missenseTLeu [L]2653
contig referenceCPro [P]2653
148407732214 rs751896201 0.000byFreq synonymousTHis [H]3654
contig referenceCHis [H]3654
148407782219 rs762094282 0.000 missenseTIle [I]2656
contig referenceCThr [T]2656
148407852226 rs767683335 0.213byFreq synonymousTPro [P]3658
contig referenceCPro [P]3658
148407882229 rs750502074 0.000byFreq missenseCAsp [D]3659
contig referenceGGlu [E]3659
148408052246 rs756153038 0.000byFreq missenseCThr [T]2665
contig referenceTIle [I]2665
148408302271 rs766810304 0.000byFreq synonymousAThr [T]3673
synonymousTThr [T]3673
contig referenceCThr [T]3673
148408382279 rs764679181 0.005byClusterbyFreqWith1000GenomeData0.0024 missenseAAsn [N]2676
contig referenceGSer [S]2676
148408462287 rs753426385 0.002byClusterWith1000GenomeData0.0008 missenseGVal [V]1679
contig referenceAIle [I]1679
148408522293 rs747850895 0.000byFreq missenseAIle [I]1681
contig referenceGVal [V]1681
148408552296 rs758012218 0.000byFreq missenseAArg [R]1682
contig referenceGGly [G]1682
148408572298 rs201129942 N.D. synonymousTGly [G]3682
contig referenceGGly [G]3682
148408782319 rs777440408 0.000byFreq synonymousTAsn [N]3689
contig referenceCAsn [N]3689
148408872328 rs373089425 0.045byClusterbyFreq synonymousTAla [A]3692
contig referenceCAla [A]3692
148409122353 rs368741626 0.000byClusterbyFreq missenseAAsn [N]1701
contig referenceGAsp [D]1701
148409382379 rs776486812 0.000byFreq missenseTSer [S]3709
contig referenceGArg [R]3709
148409402381 rs201144106 0.000byClusterbyFreq missenseGArg [R]2710
contig referenceAHis [H]2710
148409442385 rs769751029 0.000byFreq synonymousTPro [P]3711
contig referenceCPro [P]3711
148409512392 rs775401730 0.001byFreq missenseGGlu [E]1714
contig referenceCGln [Q]1714
148409722413 rs762786411 0.000byFreq missenseGVal [V]1721
contig referenceAIle [I]1721
148409752416 rs767640863 0.001byFreq missenseGAla [A]1722
contig referenceAThr [T]1722
148410462487 rs773427670 0.000byFreq synonymousASer [S]3745
contig referenceGSer [S]3745
148410512492 rs757646669 N.D. missenseCPro [P]2747
contig referenceAGln [Q]2747
148410642505 rs760725693 0.000byFreq synonymousAThr [T]3751
contig referenceGThr [T]3751
148411012542 rs766479684 0.000byFreq synonymousTLeu [L]1764
contig referenceCLeu [L]1764
148411032544 rs754388094 0.000byFreq synonymousALeu [L]3764
contig referenceGLeu [L]3764
148411042545 rs755458766 0.000 missenseTCys [C]1765
contig referenceCArg [R]1765
148411072548 rs765687878 0.000 missenseTTrp [W]1766
contig referenceCArg [R]1766
148411112552 rs753089259 0.000byFreq missenseTLeu [L]2767
contig referenceCSer [S]2767
148411152556 rs373921462 0.000byClusterbyFreq synonymousAPro [P]3768
contig referenceGPro [P]3768
148411362577 rs777299730 0.000byFreq synonymousTThr [T]3775
contig referenceGThr [T]3775
148411382579 rs746657223 0.000byFreq missenseTLeu [L]2776
contig referenceCPro [P]2776
148411402581 rs756784180 0.000byFreq missenseCHis [H]1777
contig referenceAAsn [N]1777
148411522593 rs756754822 0.002byClusterWith1000GenomeData0.0008 missenseGVal [V]1781
contig referenceAMet [M]1781
148411662607 rs745848381 0.000byFreq synonymousGThr [T]3785
contig referenceAThr [T]3785
148411802621 rs769873617 0.000byFreq missenseGArg [R]2790
contig referenceAGln [Q]2790
148411832624 rs775503750 0.000 missenseGArg [R]2791
contig referenceCPro [P]2791
148412162657 rs764802547 0.002byClusterWith1000GenomeData0.0008 missenseGArg [R]2802
contig referenceAGln [Q]2802
148412222663 rs746137156 0.000byFreq frame shift-Ile [I]2804
contig referenceGSer [S]2804
148412442685 rs768485217 0.000byFreq missenseGGln [Q]3811
contig referenceTHis [H]3811
148412592700 rs773374104 0.000byFreq synonymousGVal [V]3816
contig referenceAVal [V]3816

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