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SNP linked to Gene (geneID:54344) 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): 3
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
XM_017001498.1minus strandXP_016856987.1reverseNT_004487.20GRCh38.p7<- currently shown
NM_153741.1minus strandNP_714963.1reverseNT_004487.20GRCh38.p7View snp on GeneModel
NM_018973.3minus strandNP_061846.2reverseNT_004487.20GRCh38.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_004487.20XM_017001498.1XP_016856987.1reverseminus strand90, 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
155139964312 rs568001373 N.D.byCluster CArg [R]193
GGly [G]193
contig referenceT193
155139968308 rs1470017462 N.D. synonymousGArg [R]391
contig referenceCArg [R]391
155139970306 rs765483911 0.000 missenseTCys [C]191
contig referenceCArg [R]191
155139973303 rs750763940 0.000 synonymousTLeu [L]190
contig referenceCLeu [L]190
155139975301 rs758821383 0.000 missenseAGlu [E]289
contig referenceGGly [G]289
155139977299 rs766728407 0.000 missenseTSer [S]388
contig referenceGArg [R]388
155139982294 rs1167375466 N.D. missenseTCys [C]187
contig referenceCArg [R]187
155139983293 rs1302786677 N.D. synonymousTAla [A]386
contig referenceCAla [A]386
155139984292 rs752119871 0.000 missenseAAsp [D]286
missenseTVal [V]286
contig referenceCAla [A]286
155139985291 rs755494157 0.000 missenseTSer [S]186
contig referenceGAla [A]186
155139991285 rs747698691 0.000 missenseTTyr [Y]184
contig referenceGAsp [D]184
155139992284 rs193215070 0.001byClusterbyFreqWith1000GenomeData0.0012 synonymousAAla [A]383
contig referenceCAla [A]383
155139993283 rs777586354 0.000 missenseTVal [V]283
contig referenceCAla [A]283
155139996280 rs1423024691 N.D. missenseAGln [Q]282
contig referenceGArg [R]282
155139997279 rs749000879 0.000 nonsenseT182
missenseGGly [G]182
contig referenceCArg [R]182
155139998278 rs1328881522 N.D. synonymousGAla [A]381
contig referenceCAla [A]381
155140006270 rs770767631 0.000 nonsenseT179
contig referenceCGln [Q]179
155140009267 rs145285403 0.000byCluster missenseGVal [V]178
contig referenceAIle [I]178
155140013263 rs1346617315 N.D. missenseGArg [R]376
synonymousTSer [S]376
contig referenceCSer [S]376
155140016259 rs1201227927 N.D. frame shiftTGCAHis [H]275
contig reference-Gln [Q]275
155140023253 rs745807155 0.000byFreq missenseCAla [A]273
contig referenceAGlu [E]273
155140025251 rs1280947907 N.D. synonymousGArg [R]372
contig referenceCArg [R]372
155140029247 rs772066343 0.000 missenseTVal [V]271
contig referenceCAla [A]271
155140030246 rs1435556781 N.D. missenseAThr [T]171
missenseTSer [S]171
contig referenceGAla [A]171
155140033243 rs776662775 0.000byFreq missenseAThr [T]170
contig referenceGAla [A]170
155140034242 rs761931137 0.000 missenseGGlu [E]369
synonymousTAsp [D]369
contig referenceCAsp [D]369
155140036240 rs1312870105 N.D. missenseTTyr [Y]169
contig referenceGAsp [D]169
155140039237 rs535242424 N.D. missenseALys [K]168
contig referenceGGlu [E]168
155140045231 rs1204451277 N.D. missenseTTyr [Y]166
contig referenceGAsp [D]166
155140048228 rs1054576178 N.D. missenseTTyr [Y]165
contig referenceCHis [H]165
155140051225 rs1209427759 N.D. missenseAIle [I]164
missenseGVal [V]164
contig referenceTPhe [F]164
155140053223 rs769954609 0.000 missenseGSer [S]263
contig referenceCThr [T]263
155140053223 rs979348222 N.D. frame shift-Ile [I]263
contig referenceCThr [T]263
155140062214 rs773427971 0.000byFreq missenseAHis [H]260
missenseTLeu [L]260
contig referenceGArg [R]260
155140063213 rs766751249 0.000byFreq missenseGGly [G]160
missenseTCys [C]160
contig referenceCArg [R]160
155140065211 rs1055439022 N.D. missenseGCys [C]259
contig referenceATyr [Y]259
155140068208 rs751933402 0.000 missenseCAla [A]258
contig referenceGGly [G]258
155140070205 rs746623090 0.000 frame shift-Gly [G]257
contig referenceTGVal [V]257
155140073203 rs760053484 0.000 synonymousCThr [T]356
contig referenceTThr [T]356
155140075201 rs1020815330 N.D. missenseGAla [A]156
contig referenceAThr [T]156
155140078198 rs1427865540 N.D. missenseASer [S]155
contig referenceGGly [G]155
155140081195 rs768184225 0.000 synonymousTLeu [L]154
contig referenceCLeu [L]154
155140082194 rs775620668 0.000byFreq synonymousTAla [A]353
contig referenceCAla [A]353
155140084192 rs755721280 0.000 missenseTSer [S]153
contig referenceGAla [A]153
155140094182 rs777504403 0.000 synonymousTAla [A]349
contig referenceCAla [A]349
155140096180 rs753544740 0.000 missenseTSer [S]149
contig referenceGAla [A]149
155140097179 rs756921136 0.000 synonymousTSer [S]348
contig referenceCSer [S]348
155140112164 rs1306887175 N.D. synonymousGAla [A]343
contig referenceCAla [A]343
155140114162 rs778766264 0.000byFreq missenseAThr [T]143
contig referenceGAla [A]143
155140117159 rs745692004 0.000 missenseGAla [A]142
missenseTSer [S]142
contig referenceCPro [P]142
155140122154 rs771976355 0.000 missenseTLeu [L]240
contig referenceCPro [P]240
155140127149 rs779989757 0.000 synonymousALeu [L]338
contig referenceGLeu [L]338
155140128148 rs748158411 0.000 missenseGArg [R]238
contig referenceTLeu [L]238
155140129147 rs368529799 0.000byClusterbyFreq synonymousTLeu [L]138
contig referenceCLeu [L]138
155140146130 rs959102245 N.D. missenseCSer [S]232
contig referenceTLeu [L]232
155140148128 rs1265950095 N.D. synonymousTPro [P]331
contig referenceCPro [P]331
155140150126 rs1453660374 N.D. missenseTSer [S]131
contig referenceCPro [P]131
155140151125 rs144852184 0.000byCluster synonymousALeu [L]330
synonymousCLeu [L]330
contig referenceGLeu [L]330
155140153123 rs1241700130 N.D. synonymousTLeu [L]130
contig referenceCLeu [L]130
155140157119 rs773222043 0.000 synonymousALeu [L]328
contig referenceGLeu [L]328
155140167109 rs1190532841 N.D. missenseTVal [V]225
contig referenceCAla [A]225
155140168108 rs61811932 0.500 missenseTSer [S]125
contig referenceGAla [A]125
155140173103 rs1390875005 N.D. missenseTMet [M]223
contig referenceCThr [T]223
15514018096 rs1424175422 N.D. synonymousTLeu [L]121
contig referenceCLeu [L]121
15514018195 rs371295542 0.002byClusterbyFreqWith1000GenomeData0.0014 synonymousTAla [A]320
contig referenceCAla [A]320
15514018294 rs771096059 0.000 missenseTVal [V]220
contig referenceCAla [A]220
15514018690 rs141877691 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseAMet [M]119
missenseTLeu [L]119
contig referenceGVal [V]119
15514019185 rs768094183 0.000 missenseTIle [I]217
contig referenceCThr [T]217
15514019383 rs753265590 0.000 synonymousTSer [S]316
contig referenceCSer [S]316
15514019482 rs760209086 0.000 missenseTPhe [F]216
contig referenceCSer [S]216
15514019680 rs763687443 0.000 synonymousGGly [G]315
synonymousTGly [G]315
contig referenceCGly [G]315
15514019779 rs372215837 0.000byClusterbyFreq missenseAAsp [D]215
missenseCAla [A]215
missenseTVal [V]215
contig referenceGGly [G]215
15514019878 rs756905777 0.000 missenseASer [S]115
contig referenceGGly [G]115
15514020076 rs778481307 0.000 missenseCPro [P]214
contig referenceTLeu [L]214
15514020175 rs750183491 0.000 synonymousTLeu [L]114
contig referenceCLeu [L]114
15514020274 rs758221729 0.000 synonymousTIle [I]313
contig referenceCIle [I]313
15514020571 rs376735448 0.000byCluster synonymousAAla [A]312
synonymousCAla [A]312
contig referenceGAla [A]312
15514020769 rs746935774 0.000 missenseAThr [T]112
contig referenceGAla [A]112
15514021165 rs1298052488 N.D. synonymousGGly [G]310
contig referenceAGly [G]310
15514021264 rs768337008 0.000 frame shift-Asp [D]210
contig referenceGGly [G]210
15514021363 rs367584459 0.000byCluster missenseAArg [R]110
missenseCArg [R]110
contig referenceGGly [G]110
15514022056 rs1444066075 N.D. nonsenseA37
contig referenceGTrp [W]37
15514022353 rs371451995 0.000byCluster missenseCHis [H]36
contig referenceGGln [Q]36
15514023343 rs777875846 0.000byFreq missenseTIle [I]23
contig referenceALys [K]23
15514023541 rs1247368193 N.D. synonymousAThr [T]32
contig referenceGThr [T]32
15514023739 rs1348247244 N.D. missenseGAla [A]12
contig referenceAThr [T]12
15514023937 rs749373986 0.000 missenseCThr [T]21
contig referenceTMet [M]21
15514024036 rs568803792 N.D.byCluster missenseCLeu [L]11
missenseGVal [V]11
contig referenceAMet [M]11