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SNP linked to Gene (geneID:4267) 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): 16
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_002414.3plus strandNP_002405.1forwardNT_167197.2GRCh38.p2<- currently shown
NM_002414.3plus strandNP_002405.1forwardNT_167205.2GRCh38.p2View snp on GeneModel
XM_005274799.2plus strandXP_005274856.1forwardNT_167205.2GRCh38.p2View snp on GeneModel
XM_005274798.3plus strandXP_005274855.1forwardNT_167205.2GRCh38.p2View snp on GeneModel
XM_005274797.1plus strandXP_005274854.1forwardNT_167205.2GRCh38.p2View snp on GeneModel
XM_005274796.2plus strandXP_005274853.1forwardNT_167205.2GRCh38.p2View snp on GeneModel
XM_005274794.1plus strandXP_005274851.1forwardNT_167205.2GRCh38.p2View snp on GeneModel
XM_005274535.2plus strandXP_005274592.1forwardNT_167197.2GRCh38.p2View snp on GeneModel
XM_005274534.3plus strandXP_005274591.1forwardNT_167197.2GRCh38.p2View snp on GeneModel
XM_005274533.1plus strandXP_005274590.1forwardNT_167197.2GRCh38.p2View snp on GeneModel
XM_005274532.2plus strandXP_005274589.1forwardNT_167197.2GRCh38.p2View snp on GeneModel
XM_005274530.1plus strandXP_005274587.1forwardNT_167197.2GRCh38.p2View snp on GeneModel
NM_001277710.1plus strandNP_001264639.1forwardNT_167197.2GRCh38.p2View snp on GeneModel
NM_001277710.1plus strandNP_001264639.1forwardNT_167205.2GRCh38.p2View snp on GeneModel
NM_001122898.1plus strandNP_001116370.1forwardNT_167197.2GRCh38.p2View snp on GeneModel
NM_001122898.1plus strandNP_001116370.1forwardNT_167205.2GRCh38.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_167197.2NM_002414.3NP_002405.1forwardplus strand126, 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
2691364178 rs769447472 0.001byFreq missenseTSer [S]12
contig referenceGAla [A]12
2691367181 rs200500966 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseTCys [C]13
contig referenceCArg [R]13
2691380194 rs762797384 0.000byFreq missenseCPro [P]27
missenseGArg [R]27
contig referenceTLeu [L]27
2691384198 rs774316838 0.000byFreq synonymousCAla [A]38
contig referenceGAla [A]38
2691389203 rs759552988 0.000 missenseCPro [P]210
contig referenceTLeu [L]210
2691390204 rs11556077 0.000 synonymousALeu [L]310
synonymousCLeu [L]310
contig referenceGLeu [L]310
2691400214 rs753965361 0.000 synonymousTLeu [L]114
contig referenceCLeu [L]114
2691405219 rs745987714 0.000 frame shift-Val [V]316
contig referenceGGly [G]316
2691405219 rs757357512 0.000byFreq synonymousALeu [L]315
contig referenceGLeu [L]315
2691412226 rs1803975 0.015byClusterbyFreqWith1000GenomeData0.0192 missenseGVal [V]118
contig referenceCLeu [L]118
2691422236 rs761776307 0.000byClusterWith1000GenomeData0.0002 missenseTVal [V]221
contig referenceCAla [A]221
2691424238 rs758881811 0.000 missenseTSer [S]122
contig referenceCPro [P]122
2714422242 rs200399605 0.000byClusterWith1000GenomeData0.0002 missenseGGly [G]223
contig referenceAAsp [D]223
2714432252 rs752528634 0.000byFreq synonymousTPhe [F]326
contig referenceCPhe [F]326
2714433253 rs760440460 0.000byFreq missenseAAsn [N]127
contig referenceGAsp [D]127
2714434254 rs764065389 0.000 missenseGGly [G]227
contig referenceAAsp [D]227
2714436256 rs145754527 0.000byCluster missenseGVal [V]128
contig referenceTLeu [L]128
2714441261 rs1136447 0.484byClusterbyFreqWith1000GenomeData0.3139 synonymousTSer [S]329
synonymousTSer [S]329
contig referenceCSer [S]329
contig referenceCSer [S]329
2714447267 rs780302853 0.000byClusterWith1000GenomeData0.0002 synonymousTAla [A]331
contig referenceCAla [A]331
2717605275 rs752820716 0.000 missenseGGly [G]234
contig referenceAAsp [D]234
2717614284 rs756379624 0.000byFreq missenseGSer [S]237
contig referenceAAsn [N]237
2717623293 rs755388046 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseGArg [R]240
missenseTLeu [L]240
contig referenceCPro [P]240
2717626296 rs757825936 0.000 missenseGSer [S]241
contig referenceCThr [T]241
2717635305 rs779616097 0.000 missenseAHis [H]244
contig referenceCPro [P]244
2717638308 rs745344101 0.000byFreq missenseGArg [R]245
contig referenceALys [K]245
2717643313 rs201999243 0.000byClusterWith1000GenomeData0.0002 missenseTSer [S]147
contig referenceCPro [P]147
2717648318 rs775091279 0.000 synonymousCSer [S]348
contig referenceTSer [S]348
2717650320 rs180706684 N.D.With1000GenomeData missenseTVal [V]249
contig referenceCAla [A]249
2719668330 rs769537440 0.000 missenseGGlu [E]352
contig referenceCAsp [D]352
2719678340 rs4268274 N.D.byClusterwithHapMapFreq nonsenseT156
contig referenceGGly [G]156
2719684346 rs773012586 0.000 missenseAThr [T]158
contig referenceGAla [A]158
2719690352 rs762739181 0.000byFreq missenseAIle [I]160
contig referenceGVal [V]160
2719694356 rs766408221 0.000 missenseGGly [G]261
contig referenceAAsp [D]261
2719695357 rs775419785 0.000 synonymousCAsp [D]361
contig referenceTAsp [D]361
2720357369 rs146608942 0.000byClusterbyFreq synonymousTAsp [D]365
contig referenceCAsp [D]365
2720358370 rs774386901 0.000byFreq missenseAAsn [N]166
contig referenceGAsp [D]166
2720361373 rs759426891 0.000 missenseGAla [A]167
contig referenceCPro [P]167
2720365377 rs768811289 0.000byFreq missenseAGln [Q]268
contig referenceGArg [R]268
2720369381 rs776866807 0.000byFreq synonymousGPro [P]369
contig referenceAPro [P]369
2720371383 rs762063401 0.000byFreq missenseTLeu [L]270
contig referenceCPro [P]270
2720372384 rs765619235 0.000byFreq synonymousAPro [P]370
contig referenceGPro [P]370
2720380392 rs750801970 0.000 missenseAHis [H]273
contig referenceCPro [P]273
2720385397 rs368802346 0.000byCluster missenseTSer [S]175
contig referenceCPro [P]175
2720386398 rs766761184 0.000byFreq missenseTLeu [L]275
contig referenceCPro [P]275
2720388400 rs752064839 0.000 missenseCLeu [L]176
contig referenceAMet [M]176
2720404416 rs755461615 0.000 missenseTLeu [L]281
contig referenceCPro [P]281
2720406418 rs750443004 0.000byClusterWith1000GenomeData0.0002 missenseGAsp [D]182
contig referenceAAsn [N]182
2720411423 rs752206351 0.000 synonymousTHis [H]383
contig referenceCHis [H]383
2720413425 rs755750904 0.000byFreq missenseGArg [R]284
contig referenceCPro [P]284
2720423435 rs143391916 0.000byClusterbyFreq synonymousTSer [S]387
contig referenceCSer [S]387
2720424436 rs749005122 0.000 missenseASer [S]188
contig referenceGGly [G]188
2722636446 rs756878209 0.000 missenseTLeu [L]291
contig referenceCSer [S]291
2722642452 rs778704880 0.000 missenseAAsp [D]293
contig referenceCAla [A]293
2722647457 rs745720510 0.000 missenseTPhe [F]195
contig referenceCLeu [L]195
2722650460 rs758392765 0.000 missenseAThr [T]196
contig referenceGAla [A]196
2722651461 rs376993747 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseTVal [V]296
contig referenceCAla [A]296
2722652462 rs151333222 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousAAla [A]396
synonymousTAla [A]396
contig referenceGAla [A]396
2722654464 rs773187289 0.000byFreq missenseGGly [G]297
contig referenceAAsp [D]297
2722658468 rs749469266 0.000byFreq synonymousTGly [G]398
contig referenceCGly [G]398
2722659469 rs371054157 0.000byClusterbyFreq missenseAIle [I]199
contig referenceGVal [V]199
2722663473 rs774772463 0.000 missenseTLeu [L]2100
contig referenceCSer [S]2100
2722666476 rs199746750 0.000byClusterbyFreqWith1000GenomeData missenseAAsp [D]2101
contig referenceGGly [G]2101
2722670480 rs767983353 0.000 synonymousGGly [G]3102
contig referenceAGly [G]3102
2722673483 rs775935829 0.000 missenseCAsp [D]3103
contig referenceAGlu [E]3103
2723314485 rs776195577 0.000 missenseAGlu [E]2104
contig referenceGGly [G]2104
2723315486 rs761275997 0.000byFreq synonymousTGly [G]3104
contig referenceAGly [G]3104
2723324495 rs764909515 0.000 synonymousTGly [G]3107
contig referenceCGly [G]3107
2723325496 rs750052107 0.000 missenseCArg [R]1108
contig referenceASer [S]1108
2723346517 rs762713240 0.000 missenseTTrp [W]1115
contig referenceAArg [R]1115
2723352523 rs766219273 0.000 nonsenseT1117
contig referenceGGlu [E]1117
2723357528 rs751403778 0.000 synonymousTGly [G]3118
contig referenceGGly [G]3118
2723358529 rs140688356 0.000byCluster missenseALys [K]1119
missenseCGln [Q]1119
contig referenceGGlu [E]1119
2723359530 rs753924080 0.000byFreq missenseGGly [G]2119
contig referenceAGlu [E]2119
2723361532 rs757246344 0.000byFreq missenseCGln [Q]1120
contig referenceGGlu [E]1120
2723363534 rs375663840 0.000 missenseCAsp [D]3120
contig referenceGGlu [E]3120
2726261537 rs1136470 0.239byClusterbyFreqwithHapMapFreqWith1000GenomeData0.1186 synonymousTAla [A]3121
synonymousTAla [A]3121
contig referenceCAla [A]3121
contig referenceCAla [A]3121
2726262538 rs750484164 0.000 missenseAAsn [N]1122
contig referenceGAsp [D]1122
2726264540 rs373612158 0.000byClusterbyFreq synonymousTAsp [D]3122
contig referenceCAsp [D]3122
2726272548 rs766473073 0.000byFreq missenseAAsp [D]2125
contig referenceGGly [G]2125
2726273549 rs138707703 0.003byClusterbyFreqWith1000GenomeData0.0030 synonymousTGly [G]3125
contig referenceCGly [G]3125
2726274550 rs755239485 0.000byFreq missenseAMet [M]1126
contig referenceGVal [V]1126
2726279555 rs775613947 0.000With1000GenomeData0.0002 synonymousTIle [I]3127
contig referenceCIle [I]3127
2726282558 rs149139871 0.028byClusterbyFreqWith1000GenomeData0.0080 synonymousTPro [P]3128
contig referenceCPro [P]3128
2726283559 rs376324452 0.000byCluster missenseAArg [R]1129
contig referenceGGly [G]1129
2726289565 rs756675653 0.000 missenseAMet [M]1131
contig referenceGVal [V]1131
2726296572 rs778472277 0.000 missenseTVal [V]2133
contig referenceCAla [A]2133
2726300576 rs769534229 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousTVal [V]3134
contig referenceCVal [V]3134
2726301577 rs770516694 0.000 missenseAMet [M]1135
contig referenceGVal [V]1135
2726303579 rs774014575 0.000byFreq synonymousTVal [V]3135
contig referenceGVal [V]3135
2726304580 rs745447317 0.000byFreq missenseAIle [I]1136
missenseTPhe [F]1136
contig referenceGVal [V]1136
2726306582 rs775137030 0.000 synonymousTVal [V]3136
contig referenceCVal [V]3136
2726307583 rs188016181 0.000byClusterWith1000GenomeData0.0002 missenseAThr [T]1137
contig referenceGAla [A]1137
2726309585 rs201728300 0.000byCluster synonymousAAla [A]3137
synonymousTAla [A]3137
contig referenceCAla [A]3137
2726312588 rs146973165 0.002byClusterbyFreqWith1000GenomeData0.0036 synonymousAVal [V]3138
contig referenceGVal [V]3138
2726324600 rs761757400 0.000 synonymousTIle [I]3142
contig referenceCIle [I]3142
2726335611 rs766386009 0.000 missenseCThr [T]2146
contig referenceTIle [I]2146
2726337613 rs751660625 0.000byFreq missenseTSer [S]1147
contig referenceGAla [A]1147
2726342618 rs755148886 0.000 nonsenseG3148
contig referenceCTyr [Y]3148
2726343619 rs767835392 0.000byFreq missenseALys [K]1149
contig referenceCGln [Q]1149
2726344620 rs184274661 0.000byClusterWith1000GenomeData0.0002 missenseCPro [P]2149
missenseGArg [R]2149
contig referenceAGln [Q]2149
2726347623 rs778304874 0.000byFreq missenseGArg [R]2150
missenseTIle [I]2150
contig referenceALys [K]2150
2726348624 rs757846142 0.000 missenseCAsn [N]3150
contig referenceALys [K]3150
2726354630 rs773877636 N.D.With1000GenomeData synonymousALys [K]3152
contig referenceGLys [K]3152
2726358634 rs778283322 0.000 missenseCArg [R]1154
contig referenceTCys [C]1154
2726360636 rs112153242 N.D. missenseGTrp [W]3154
contig referenceCCys [C]3154
2726361637 rs759021573 0.000byClusterWith1000GenomeData0.0002 missenseCLeu [L]1155
contig referenceTPhe [F]1155
2726365641 rs111627495 N.D. missenseCThr [T]2156
contig referenceALys [K]2156
2738202652 rs766226179 0.000 missenseALys [K]1160
contig referenceGGlu [E]1160
2738204654 rs202132215 0.000byClusterWith1000GenomeData0.0002 synonymousGGlu [E]3160
contig referenceAGlu [E]3160
2738210660 rs754955628 0.000 synonymousTGly [G]3162
contig referenceGGly [G]3162
2738211661 rs764013517 0.000 missenseALys [K]1163
contig referenceGGlu [E]1163
2738214664 rs753976984 0.000byFreq missenseAMet [M]1164
missenseTLeu [L]1164
contig referenceGVal [V]1164
2738217667 rs11556084 0.066byClusterbyFreqWith1000GenomeData0.0198 missenseAAsn [N]1165
missenseAAsn [N]1165
missenseAAsn [N]1165
missenseAAsn [N]1165
contig referenceGAsp [D]1165
contig referenceGAsp [D]1165
contig referenceGAsp [D]1165
contig referenceGAsp [D]1165
2738220670 rs4793 0.138byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0667 missenseGVal [V]1166
missenseGVal [V]1166
contig referenceAMet [M]1166
contig referenceAMet [M]1166
2738225675 rs375075932 0.000byClusterWith1000GenomeData0.0002 synonymousAGlu [E]3167
contig referenceGGlu [E]3167
2738230680 rs780484454 0.000 missenseCPro [P]2169
contig referenceAHis [H]2169
2738231681 rs201188695 N.D.With1000GenomeData synonymousTHis [H]3169
contig referenceCHis [H]3169
2738232682 rs202021795 0.000byCluster missenseGGly [G]1170
missenseTTrp [W]1170
contig referenceCArg [R]1170
2738233683 rs141423645 0.001byClusterbyFreqWith1000GenomeData0.0012 missenseAGln [Q]2170
contig referenceGArg [R]2170
2738235685 rs148700361 0.000byClusterWith1000GenomeData0.0002 missenseCHis [H]1171
contig referenceAAsn [N]1171
2738242692 rs4717 0.133byClusterbyFreqWith1000GenomeData0.0591 missenseTIle [I]2173
missenseTIle [I]2173
contig referenceAAsn [N]2173
contig referenceAAsn [N]2173
2738243693 rs370085745 0.000byClusterbyFreq synonymousTAsn [N]3173
contig referenceCAsn [N]3173
2738244694 rs762715212 0.000 missenseAThr [T]1174
contig referenceGAla [A]1174
2740785713 rs150825051 0.000byClusterbyFreqWith1000GenomeData0.0006 missenseAHis [H]2180
contig referenceGArg [R]2180
2740791719 rs759414214 0.000 missenseCPro [P]2182
contig referenceTLeu [L]2182
2740796724 rs771793015 0.000 missenseCGln [Q]1184
contig referenceGGlu [E]1184

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