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SNP linked to Gene (geneID:10008) 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_005472.4minus strandNP_005463.1reverseNT_167190.2GRCh38.p7<- currently shown
XM_017017052.1minus strandXP_016872541.1reverseNT_167190.2GRCh38.p7View snp on GeneModel
XM_017017051.1minus strandXP_016872540.1reverseNT_167190.2GRCh38.p7View snp on GeneModel
XM_017017050.1minus strandXP_016872539.1reverseNT_167190.2GRCh38.p7View snp on GeneModel
XM_017017049.1minus strandXP_016872538.1reverseNT_167190.2GRCh38.p7View snp on GeneModel
XM_017017048.1minus strandXP_016872537.1reverseNT_167190.2GRCh38.p7View snp on GeneModel
XM_017017047.1minus strandXP_016872536.1reverseNT_167190.2GRCh38.p7View snp on GeneModel
XM_011544713.2minus strandXP_011543015.1reverseNT_167190.2GRCh38.p7View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p7NT_167190.2NM_005472.4NP_005463.1reverseminus strand104, 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
74457254657 rs141695803 0.000 CGln [Q]1104
contig referenceT1104
74457257654 rs753448731 0.000 missenseTPhe [F]1103
contig referenceAIle [I]1103
74457258653 rs1279507465 N.D. missenseCIle [I]3102
contig referenceGMet [M]3102
74457260651 rs556647231 0.000byClusterbyFreq missenseGVal [V]1102
contig referenceAMet [M]1102
74457266645 rs1212670506 N.D. missenseAMet [M]1100
contig referenceGVal [V]1100
74457269642 rs748088627 0.000byFreq missenseTCys [C]199
contig referenceCArg [R]199
74457269642 rs888537773 N.D. frame shift-Val [V]199
contig referenceCArg [R]199
74457278633 rs1210228180 N.D. missenseTPhe [F]196
contig referenceAIle [I]196
74457280631 rs771943960 0.000byFreq missenseGCys [C]295
contig referenceATyr [Y]295
74457285626 rs199972628 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAGln [Q]393
synonymousCHis [H]393
contig referenceTHis [H]393
74457285625 rs1476781635 N.D. frame shift-Arg [R]293
contig referenceATHis [H]293
74457286625 rs1329138899 N.D. missenseGArg [R]293
contig referenceAHis [H]293
74457290621 rs1006962870 N.D. frame shift-Ile [I]192
contig referenceTTyr [Y]192
74457300611 rs746750241 0.000 synonymousAArg [R]388
contig referenceTArg [R]388
74457301610 rs17221833 0.000byClusterbyFreq missenseAHis [H]288
missenseTLeu [L]288
contig referenceGArg [R]288
74457302609 rs763157740 0.000 missenseTCys [C]188
contig referenceCArg [R]188
74457303608 rs375856416 0.000byCluster missenseCAsn [N]387
contig referenceGLys [K]387
74457306605 rs964790424 N.D. missenseGGlu [E]386
contig referenceCAsp [D]386
74457308603 rs976125449 N.D. missenseAAsn [N]186
contig referenceGAsp [D]186
74457317594 rs966495313 N.D. missenseTCys [C]183
contig referenceCArg [R]183
74457322589 rs978419298 N.D. missenseAHis [H]281
contig referenceGArg [R]281
74457323588 rs542842233 0.000byFreqWith1000GenomeData0.0002 missenseTCys [C]181
contig referenceCArg [R]181
74457327584 rs768106696 0.000 synonymousTTyr [Y]379
contig referenceCTyr [Y]379
74457329582 rs1279454732 N.D. missenseCHis [H]179
contig referenceTTyr [Y]179
74457336575 rs17221826 0.000byClusterbyFreqWith1000GenomeData0.0006 synonymousTIle [I]376
synonymousTIle [I]376
contig referenceCIle [I]376
contig referenceCIle [I]376
74457339572 rs1232156443 N.D. synonymousTLeu [L]375
contig referenceCLeu [L]375
74457342569 rs760938276 0.000 missenseGArg [R]374
contig referenceCSer [S]374
74457349562 rs202036216 0.002byCluster missenseCAla [A]272
contig referenceTVal [V]272
74457352559 rs1200193917 N.D. missenseTIle [I]271
contig referenceCThr [T]271
74457358553 rs766125492 0.000 missenseTVal [V]269
contig referenceCAla [A]269
74457359552 rs1259905608 N.D. missenseAThr [T]169
contig referenceGAla [A]169
74457366545 rs2270676 0.231byClusterbyFreqwithHapMapFreqWith1000GenomeData0.1412 synonymousCPhe [F]366
synonymousCPhe [F]366
synonymousCPhe [F]366
synonymousCPhe [F]366
contig referenceTPhe [F]366
contig referenceTPhe [F]366
contig referenceTPhe [F]366
contig referenceTPhe [F]366
74457368543 rs754598853 0.000 missenseCLeu [L]166
contig referenceTPhe [F]166
74457369542 rs778413540 0.000byFreq missenseAIle [I]365
contig referenceGMet [M]365
74457370541 rs1485350191 N.D. missenseCThr [T]265
contig referenceTMet [M]265
74457373538 rs752159282 0.000byFreq missenseCAla [A]264
contig referenceTVal [V]264
74457381530 rs1416175388 N.D. synonymousCIle [I]361
contig referenceTIle [I]361
74457382529 rs758367217 0.000 missenseCThr [T]261
contig referenceTIle [I]261
74457383528 rs777664556 0.000 missenseCLeu [L]161
contig referenceAIle [I]161
74457385526 rs1009916288 N.D. missenseGCys [C]260
contig referenceATyr [Y]260
74457386525 rs1454156785 N.D. missenseCHis [H]160
contig referenceTTyr [Y]160
74457391520 rs369134829 0.000byCluster missenseGCys [C]258
contig referenceATyr [Y]258
74457396515 rs545135414 0.000With1000GenomeData0.0002 missenseGLys [K]356
synonymousTAsn [N]356
contig referenceCAsn [N]356
74457397514 rs780971201 0.000byFreq missenseGSer [S]256
contig referenceAAsn [N]256
74457399512 rs749496477 0.000 synonymousTAsp [D]355
contig referenceCAsp [D]355
74457402509 rs768960571 0.000byFreq synonymousCAsp [D]354
contig referenceTAsp [D]354
74457406505 rs565287436 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseAHis [H]253
missenseTLeu [L]253
contig referenceGArg [R]253
74457407504 rs371666083 0.000byClusterbyFreq missenseTCys [C]153
contig referenceCArg [R]153
74457413498 rs1252788225 N.D. missenseTSer [S]151
contig referenceCPro [P]151
74457414497 rs772767562 0.000 synonymousTLeu [L]350
contig referenceALeu [L]350
74457415496 rs866853654 N.D.byCluster missenseCPro [P]250
contig referenceTLeu [L]250
74457417494 rs1305934372 N.D. missenseGArg [R]349
contig referenceCSer [S]349
74457419492 rs868057422 N.D. missenseCArg [R]149
contig referenceASer [S]149
74457421490 rs773590777 0.000 missenseAAsp [D]248
contig referenceCAla [A]248
74457424487 rs761179696 0.000 missenseAGln [Q]247
contig referenceGArg [R]247
74457425486 rs17215444 0.000byCluster missenseTTrp [W]147
missenseTTrp [W]147
contig referenceCArg [R]147
contig referenceCArg [R]147
74457426485 rs1156893059 N.D. synonymousAArg [R]346
contig referenceGArg [R]346
74457427484 rs530975076 0.000With1000GenomeData0.0002 missenseALys [K]246
contig referenceGArg [R]246
74457428483 rs759214664 0.000 missenseGGly [G]146
contig referenceAArg [R]146
74457430481 rs764834315 0.000 missenseCAla [A]245
contig referenceAGlu [E]245
74457438473 rs752253389 0.000 missenseTHis [H]342
synonymousAGln [Q]342
contig referenceGGln [Q]342
74457441470 rs1176835934 N.D. synonymousTAsn [N]341
contig referenceCAsn [N]341
74457442469 rs757890580 0.000 missenseCThr [T]241
contig referenceAAsn [N]241
74457444467 rs141880803 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGGlu [E]340
contig referenceCAsp [D]340
74457448463 rs34604640 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGArg [R]239
missenseGArg [R]239
contig referenceCPro [P]239
contig referenceCPro [P]239
74457449461 rs763497447 0.000 frame shiftGAla [A]339
contig reference-Pro [P]339
74457451460 rs757172223 0.000byFreq missenseAGlu [E]238
contig referenceGGly [G]238
74457453458 rs1178939924 N.D. synonymousALeu [L]337
contig referenceGLeu [L]337
74457460451 rs780882536 0.000byFreq missenseTLeu [L]235
contig referenceCPro [P]235
74457469442 rs745645715 0.000 missenseAGln [Q]232
contig referenceGArg [R]232
74457470441 rs755300564 0.000byClusterbyFreq missenseGGly [G]132
missenseTTrp [W]132
contig referenceCArg [R]132
74457472439 rs748308590 0.000 missenseATyr [Y]231
contig referenceGCys [C]231
74457481430 rs772286478 0.000byFreq missenseGSer [S]228
contig referenceAAsn [N]228
74457486425 rs1309671345 N.D. synonymousTHis [H]326
contig referenceCHis [H]326
74457487424 rs1370045949 N.D. missenseGArg [R]226
contig referenceAHis [H]226
74457491420 rs929457354 N.D. missenseGVal [V]125
missenseTPhe [F]125
contig referenceCLeu [L]125
74457493418 rs1217397704 N.D. missenseTIle [I]224
contig referenceCThr [T]224
74457495416 rs547172459 0.000byClusterbyFreqWith1000GenomeData0.0006 frame shift-Leu [L]324
contig referenceCThr [T]324
74457497414 rs759641427 N.D. missenseCPro [P]123
contig referenceGAla [A]123
74457503408 rs1312786219 N.D. synonymousTLeu [L]121
contig referenceCLeu [L]121
74457505406 rs1203931022 N.D. missenseTVal [V]220
contig referenceCAla [A]220
74457506405 rs1256343463 N.D. missenseAThr [T]120
contig referenceGAla [A]120
74457512399 rs918843154 N.D. synonymousTLeu [L]118
contig referenceCLeu [L]118
74457513398 rs1459285123 N.D. synonymousAVal [V]317
contig referenceGVal [V]317
74457515396 rs773287275 0.000byFreq missenseAMet [M]117
contig referenceGVal [V]117
74457518393 rs767752832 0.000byFreq missenseAThr [T]116
contig referenceGAla [A]116
74457520391 rs771425703 0.000byFreq missenseGArg [R]215
contig referenceAHis [H]215
74457521390 rs776896849 0.000 missenseTTyr [Y]115
contig referenceCHis [H]115
74457524387 rs752765414 0.000byFreq missenseAMet [M]114
contig referenceCLeu [L]114
74457525386 rs764927975 0.000 missenseGArg [R]313
synonymousTSer [S]313
contig referenceCSer [S]313
74457526385 rs779362496 N.D. missenseAAsn [N]213
contig referenceGSer [S]213
74457527384 rs1466840832 N.D. missenseTCys [C]113
contig referenceASer [S]113
74457531380 rs775119405 0.000 synonymousCTyr [Y]311
contig referenceTTyr [Y]311
74457534377 rs762524567 0.000 missenseTCys [C]310
contig referenceGTrp [W]310
74457537374 rs530308751 0.000byFreqWith1000GenomeData0.0004 synonymousGThr [T]39
contig referenceCThr [T]39
74457538373 rs139040374 0.000byClusterbyFreq missenseTIle [I]29
contig referenceCThr [T]29
74457543368 rs201582585 0.000byClusterbyFreq synonymousAThr [T]37
contig referenceGThr [T]37
74457544367 rs547194943 0.000byFreqWith1000GenomeData0.0006 missenseTMet [M]27
contig referenceCThr [T]27
74457562349 rs765329541 0.000byFreq missenseCThr [T]21
contig referenceTMet [M]21