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SNP linked to Gene TAP2 (geneID:6891) 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): 9
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_018833.2minus strandNP_061313.2reverseNT_007592.16GRCh38<- currently shown
NM_018833.2minus strandNP_061313.2reverseNT_113891.3GRCh38View snp on GeneModel
NM_018833.2minus strandNP_061313.2reverseNT_167247.2GRCh38View snp on GeneModel
NM_000544.3minus strandNP_000535.3reverseNT_007592.16GRCh38View snp on GeneModel
NM_000544.3minus strandNP_000535.3reverseNT_113891.3GRCh38View snp on GeneModel
NM_000544.3minus strandNP_000535.3reverseNT_167247.2GRCh38View snp on GeneModel
NM_001290043.1minus strandNP_001276972.1reverseNT_167247.2GRCh38View snp on GeneModel
NM_001290043.1minus strandNP_001276972.1reverseNT_113891.3GRCh38View snp on GeneModel
NM_001290043.1minus strandNP_001276972.1reverseNT_007592.16GRCh38View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38NT_007592.16NM_018833.2NP_061313.2reverseminus strand118, 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
328289072182 rs184170313 N.D. YesmissenseGArg [R]2687
contig referenceAGln [Q]2687
328289072182 rs200974176 N.D. missenseGArg [R]2687
contig referenceAGln [Q]2687
328289162173 rs184698711 0.001byClusterWith1000GenomeData0.0005 YesmissenseTVal [V]2684
contig referenceCAla [A]2684
328289732116 rs111912622 N.D.byCluster YesmissenseTVal [V]2665
contig referenceCAla [A]2665
328289732116 rs200073147 N.D. missenseTVal [V]2665
contig referenceCAla [A]2665
328289742115 rs386566783 N.D. missenseCPro [P]1665
missenseTSer [S]1665
contig referenceGAla [A]1665
328290072082 rs112804759 0.500 YesmissenseTCys [C]1654
contig referenceCArg [R]1654
328290152074 rs183316663 N.D. YesmissenseCPro [P]2651
missenseTLeu [L]2651
contig referenceGArg [R]2651
328290152074 rs201485005 N.D. missenseCPro [P]2651
missenseTLeu [L]2651
contig referenceGArg [R]2651
328290162073 rs4148876 0.138byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0744 YesmissenseTCys [C]1651
missenseTCys [C]1651
contig referenceCArg [R]1651
contig referenceCArg [R]1651
328290162073 rs386591505 N.D. missenseTCys [C]1651
contig referenceCArg [R]1651
328294002054 rs200318579 0.001byClusterWith1000GenomeData0.0005 YessynonymousTAla [A]3644
contig referenceCAla [A]3644
328294092045 rs369632751 N.D. YessynonymousTCys [C]3641
contig referenceCCys [C]3641
328294122042 rs145894663 0.002byClusterbyFreq YessynonymousAGln [Q]3640
contig referenceGGln [Q]3640
328294542000 rs141926520 0.005byFreq YessynonymousAArg [R]3626
contig referenceGArg [R]3626
328295061948 rs74770812 0.027byClusterbyFreqWith1000GenomeData0.0138 YesmissenseTVal [V]2609
contig referenceCAla [A]2609
328295191935 rs113845974 N.D.byCluster YesmissenseCArg [R]1605
missenseTCys [C]1605
contig referenceASer [S]1605
328295191935 rs200592340 N.D. missenseCArg [R]1605
missenseTCys [C]1605
contig referenceASer [S]1605
328295201934 rs241441 0.388byClusterbyFreqwith2hitWith1000GenomeData0.2635 YessynonymousGGly [G]3604
contig referenceAGly [G]3604
328295321922 rs2229527 0.117byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0624 YessynonymousCVal [V]3600
contig referenceAVal [V]3600
328295351919 rs373061487 N.D. YessynonymousCAsp [D]3599
contig referenceTAsp [D]3599
328299301917 rs377614469 N.D. YesmissenseAAsn [N]1599
contig referenceGAsp [D]1599
328299441903 rs371245242 N.D. YesmissenseGArg [R]2594
contig referenceAHis [H]2594
328299491898 rs147150415 0.003byClusterbyFreq YesmissenseAIle [I]3592
contig referenceGMet [M]3592
328299701877 rs79098150 0.005byClusterbyFreqWith1000GenomeData0.0028 YessynonymousGAla [A]3585
contig referenceAAla [A]3585
328299731874 rs144543918 0.002byClusterWith1000GenomeData0.0009 YessynonymousTHis [H]3584
contig referenceCHis [H]3584
328299851862 rs199892841 0.003byCluster YessynonymousGAla [A]3580
contig referenceCAla [A]3580
328299921855 rs78328107 0.002byClusterbyFreq YesmissenseTVal [V]2578
contig referenceCAla [A]2578
328299961851 rs2228391 0.048byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0248 YesmissenseGVal [V]1577
contig referenceAMet [M]1577
328299961851 rs386561688 N.D. missenseGVal [V]1577
contig referenceAMet [M]1577
328300071840 rs1800573 N.D. YesmissenseGGly [G]2573
contig referenceAAsp [D]2573
328300111836 rs370090254 N.D. YesmissenseALys [K]1572
contig referenceGGlu [E]1572
328300321815 rs2228396 0.177byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0983 YesmissenseAThr [T]1565
contig referenceGAla [A]1565
328300321815 rs386561690 N.D. missenseCPro [P]1565
missenseTSer [S]1565
contig referenceGAla [A]1565
328300631784 rs1801283 N.D. YessynonymousAVal [V]3554
contig referenceGVal [V]3554
328300701777 rs151064661 0.001byClusterbyFreq YesmissenseGGly [G]2552
contig referenceAGlu [E]2552
328300721775 rs61736924 0.025 YessynonymousAGln [Q]3551
contig referenceGGln [Q]3551
328303141710 rs140969189 0.000byCluster YesmissenseAAsn [N]1530
contig referenceGAsp [D]1530
328303241700 rs373872064 N.D. YessynonymousAGln [Q]3526
contig referenceGGln [Q]3526
328303281696 rs367718365 N.D. YesmissenseAGlu [E]2525
contig referenceGGly [G]2525
328303611663 rs200001353 N.D. YesmissenseGGly [G]2514
contig referenceCAla [A]2514
328304031621 rs150217191 0.001byClusterbyFreq YesmissenseTVal [V]2500
contig referenceCAla [A]2500
328304061618 rs146801469 0.001byClusterbyFreq YesmissenseTMet [M]2499
contig referenceCThr [T]2499
328304321592 rs140488350 0.001byFreq YessynonymousAThr [T]3490
contig referenceGThr [T]3490
328306771524 rs145903803 0.000 YesmissenseAMet [M]1468
contig referenceGVal [V]1468
328306801521 rs150253319 0.017byClusterbyFreqWith1000GenomeData0.0087 YesmissenseAIle [I]1467
contig referenceGVal [V]1467
328306801520 rs369909014 N.D. YesmissenseAAIle [I]3467
contig referenceGGVal [V]3467
328306811520 rs137982419 0.015byClusterbyFreqWith1000GenomeData0.0078 YessynonymousAGly [G]3466
contig referenceGGly [G]3466
328307051496 rs149495208 0.018byClusterbyFreqWith1000GenomeData0.0092 YessynonymousAThr [T]3458
contig referenceGThr [T]3458
328307061495 rs200271380 N.D. YesmissenseTMet [M]2458
contig referenceCThr [T]2458
328307701431 rs189411634 N.D. YesmissenseAMet [M]1437
contig referenceGVal [V]1437
328307701431 rs200734705 N.D. missenseAMet [M]1437
contig referenceGVal [V]1437
328307711430 rs1042116 0.112byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0597 YessynonymousTAsn [N]3436
contig referenceCAsn [N]3436
328323501377 rs374339816 N.D. YesmissenseAMet [M]1419
contig referenceGVal [V]1419
328324341293 rs140330266 0.000 YesmissenseTLeu [L]1391
contig referenceAMet [M]1391
328324441283 rs2856992 0.037byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0188 YessynonymousAVal [V]3387
synonymousAVal [V]3387
contig referenceGVal [V]3387
contig referenceGVal [V]3387
328324461281 rs113839858 0.500byCluster YesmissenseAMet [M]1387
missenseCLeu [L]1387
contig referenceGVal [V]1387
328324461281 rs199941529 N.D. missenseAMet [M]1387
missenseCLeu [L]1387
contig referenceGVal [V]1387
328324471280 rs2228397 0.370byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData0.2447 YessynonymousTGly [G]3386
contig referenceGGly [G]3386
328324491278 rs201973373 0.002 YesmissenseCArg [R]1386
contig referenceGGly [G]1386
328326501242 rs111303994 0.024byClusterbyFreqWith1000GenomeData0.0119 YesmissenseAThr [T]1374
contig referenceGAla [A]1374
328326511241 rs373723421 N.D. YessynonymousTArg [R]3373
contig referenceCArg [R]3373
328326791213 rs145030658 0.000 YesmissenseGArg [R]2364
contig referenceAGln [Q]2364
328327421150 rs376467259 N.D. YesmissenseAHis [H]2343
contig referenceGArg [R]2343
328327761116 rs370591685 N.D. YesmissenseAMet [M]1332
contig referenceGVal [V]1332
328327811111 rs189210220 0.001With1000GenomeData0.0005 YesmissenseGArg [R]2330
contig referenceAGln [Q]2330
328327871105 rs148663600 N.D.byCluster YesmissenseGGly [G]2328
contig referenceCAla [A]2328
328328001092 rs143726288 0.002byClusterbyFreq YesmissenseAThr [T]1324
contig referenceGAla [A]1324
328351611060 rs140654840 0.020byClusterbyFreqWith1000GenomeData0.0101 YesmissenseAHis [H]2313
contig referenceGArg [R]2313
328351621059 rs140532996 0.001byClusterbyFreq YesmissenseTCys [C]1313
contig referenceCArg [R]1313
328351821039 rs144176825 0.000 YesmissenseTVal [V]2306
contig referenceCAla [A]2306
328351911030 rs375626246 N.D. YesmissenseTIle [I]2303
contig referenceCThr [T]2303
32835233988 rs145822869 0.001byClusterWith1000GenomeData0.0005 YesmissenseTLeu [L]2289
contig referenceCSer [S]2289
32835282939 rs61736923 0.026 YesmissenseGGly [G]1273
contig referenceCArg [R]1273
32835321900 rs374491118 N.D. YesmissenseGVal [V]1260
contig referenceAMet [M]1260
32835328893 rs372434311 N.D.byCluster YessynonymousTThr [T]3257
contig referenceCThr [T]3257
32835329892 rs138586326 0.009byClusterbyFreqWith1000GenomeData0.0046 YesmissenseTIle [I]2257
contig referenceCThr [T]2257
32835332889 rs140310179 0.001byClusterbyFreqWith1000GenomeData0.0005 YesmissenseGGly [G]2256
contig referenceAAsp [D]2256
32835357864 rs150269847 0.000 YesmissenseALys [K]1248
contig referenceGGlu [E]1248
32835653851 rs138905234 0.000 YesmissenseCAsp [D]3243
contig referenceGGlu [E]3243
32835678826 rs148976382 0.001byFreq YesmissenseAHis [H]2235
contig referenceGArg [R]2235
32835679825 rs145890763 0.000 YesmissenseTCys [C]1235
contig referenceCArg [R]1235
32835681823 rs138708621 0.002byClusterbyFreq YesmissenseAGln [Q]2234
contig referenceTLeu [L]2234
32835705799 rs371802164 N.D. YesmissenseAGln [Q]2226
contig referenceGArg [R]2226
32835712792 rs142700843 0.000byCluster YesmissenseTTrp [W]1224
contig referenceCArg [R]1224
32835724780 rs142794316 0.015byClusterbyFreqWith1000GenomeData0.0078 YessynonymousAArg [R]1220
contig referenceCArg [R]1220
32837542725 rs147979198 0.000 YessynonymousCPhe [F]3201
contig referenceTPhe [F]3201
32837554713 rs199602264 0.002 YessynonymousTCys [C]3197
contig referenceCCys [C]3197
32837569698 rs370372252 N.D. YessynonymousTAla [A]3192
contig referenceCAla [A]3192
32837582685 rs141813327 0.000 YesmissenseTVal [V]2188
contig referenceCAla [A]2188
32837608659 rs150583253 0.001byClusterbyFreqWith1000GenomeData0.0005 YessynonymousTIle [I]3179
contig referenceCIle [I]3179
32837745611 rs41551013 N.D.byCluster synonymousCVal [V]3163
contig referenceTVal [V]3163
32837745611 rs386591623 N.D. synonymousCVal [V]3163
contig referenceTVal [V]3163
32837791565 rs201271067 N.D.byCluster missenseCAla [A]2148
contig referenceAAsp [D]2148
32837810546 rs372760767 N.D. missenseAMet [M]1142
contig referenceCLeu [L]1142
32837813543 rs112666302 0.500 missenseGVal [V]1141
contig referenceCLeu [L]1141
32837834522 rs376051965 N.D. missenseGAsp [D]1134
contig referenceAAsn [N]1134
32837860496 rs55960746 N.D. missenseCPro [P]2125
contig referenceAGln [Q]2125
32837885471 rs139588238 0.000 missenseAThr [T]1117
contig referenceGAla [A]1117
32837898458 rs55765602 0.011byClusterbyFreqWith1000GenomeData0.0055 synonymousTSer [S]3112
contig referenceCSer [S]3112
32837960396 rs143344981 0.001 missenseAThr [T]192
contig referenceGAla [A]192
32837998358 rs11537541 N.D. missenseCPro [P]279
contig referenceTLeu [L]279
32838012344 rs2229526 0.005byClusterbyFreqWith1000GenomeData0.0028 synonymousAPro [P]374
synonymousGPro [P]374
contig referenceCPro [P]374
32838055301 rs373611572 N.D. missenseTVal [V]260
contig referenceGGly [G]260
32838067289 rs17220192 0.042byFreq missenseALys [K]256
contig referenceGArg [R]256
32838069287 rs2228393 0.008byClusterbyFreqwithHapMapFreq synonymousGLeu [L]355
synonymousGLeu [L]355
contig referenceALeu [L]355
contig referenceALeu [L]355
32838069287 rs386561689 N.D. synonymousGLeu [L]355
contig referenceALeu [L]355
32838072284 rs56064400 0.040byClusterbyFreqWith1000GenomeData0.0207 synonymousALys [K]354
contig referenceGLys [K]354
32838075281 rs139576885 0.000 synonymousGLeu [L]353
contig referenceALeu [L]353
32838077279 rs144282514 0.001byFreq missenseGVal [V]153
contig referenceCLeu [L]153
32838093263 rs200631900 0.023byFreq synonymousGGly [G]347
contig referenceAGly [G]347
32838095261 rs370260585 N.D. missenseCArg [R]147
contig referenceGGly [G]147
32838112244 rs201731596 0.008byClusterbyFreq missenseGGly [G]241
contig referenceAGlu [E]241
32838134222 rs145218757 0.000 missenseAArg [R]134
contig referenceGGly [G]134
32838166190 rs56071805 N.D. missenseCPro [P]223
contig referenceTLeu [L]223
32838182174 rs142474137 0.000 missenseTSer [S]118
contig referenceGAla [A]118
32838190166 rs55827768 0.014byClusterbyFreqWith1000GenomeData0.0069 missenseCAla [A]215
contig referenceTVal [V]215
32838230126 rs61736918 0.005byClusterbyFreqWith1000GenomeData0.0028 missenseTTrp [W]12
contig referenceCArg [R]12

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