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dbSNP

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SNP linked to Gene (geneID:28985) 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): 2
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_014060.2plus strandNP_054779.1forwardNT_011786.17GRCh38.p7View snp on GeneModel
NM_001137554.1plus strandNP_001131026.1forwardNT_011786.17GRCh38.p7View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
XR_938549.294, 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
120604856160 rs767404225 0.000 missenseAIle [I]31
contig referenceGMet [M]31
120604858162 rs750185102 0.000 missenseAAsp [D]22
contig referenceGGly [G]22
120605412177 rs758913648 0.000 missenseGGly [G]27
contig referenceAAsp [D]27
120605425190 rs778160792 0.000 synonymousCAsn [N]311
contig referenceTAsn [N]311
120605440205 rs747315087 0.000 synonymousAIle [I]316
contig referenceCIle [I]316
120605464229 rs1275721581 N.D. synonymousALys [K]324
contig referenceGLys [K]324
120605465230 rs143806871 0.001byClusterbyFreqWith1000GenomeData0.0003 YesmissenseTCys [C]125
contig referenceGGly [G]125
120605470235 rs930315029 N.D. synonymousCIle [I]326
contig referenceTIle [I]326
120605479244 rs777197651 0.000 synonymousGGln [Q]329
contig referenceAGln [Q]329
120605482247 rs1004370530 N.D. missenseTPhe [F]330
contig referenceGLeu [L]330
120605491256 rs746087409 0.000 synonymousGGln [Q]333
contig referenceAGln [Q]333
120605497262 rs769952632 0.000 synonymousTPro [P]335
contig referenceAPro [P]335
120605506271 rs775619303 0.000byFreq missenseTAsp [D]338
synonymousGGlu [E]338
contig referenceAGlu [E]338
120605510275 rs1387790259 N.D. missenseCArg [R]140
contig referenceTTrp [W]140
120605518283 rs1448444371 N.D. frame shiftAThr [T]343
contig reference-Gln [Q]343
120605519284 rs1168862489 N.D. frame shift(11bp)Tyr [Y]144
contig reference-Ile [I]144
120605521286 rs1421339467 N.D. frame shiftTTyr [Y]344
contig reference-Ile [I]344
120605532297 rs767448676 0.000byFreq missenseGArg [R]247
contig referenceALys [K]247
120605533298 rs1322791458 N.D. missenseTAsn [N]347
contig referenceGLys [K]347
120605547312 rs1350460332 N.D. (9bp) [YTA]252
120605550315 rs886159046 N.D. missenseCThr [T]253
contig referenceTIle [I]253
120605552317 rs1441730371 N.D. missenseAIle [I]154
contig referenceGVal [V]154
120605558323 rs773027930 0.000byFreq missenseASer [S]156
contig referenceTCys [C]156
120606088334 rs750051833 N.D. synonymousCHis [H]359
contig referenceTHis [H]359
120606106352 rs1243541476 N.D. synonymousGVal [V]365
contig referenceAVal [V]365
120606118364 rs1471682879 N.D. synonymousGLeu [L]369
contig referenceALeu [L]369
120606122368 rs368656330 N.D. YesmissenseCLeu [L]171
contig referenceTPhe [F]171
120606127373 rs372790759 0.000byClusterbyFreq YessynonymousCPhe [F]372
contig referenceTPhe [F]372
120606129375 rs148197434 0.008byClusterbyFreqWith1000GenomeData0.0016 YesmissenseALys [K]273
contig referenceGArg [R]273
120606133379 rs1205683626 N.D. synonymousGGln [Q]374
contig referenceAGln [Q]374
120606141387 rs867406427 N.D. missenseAGlu [E]277
contig referenceGGly [G]277
120606157403 rs778289672 0.000 synonymousTThr [T]382
contig referenceCThr [T]382
120606162408 rs186248794 0.000byClusterbyFreqWith1000GenomeData0.0016 YesmissenseALys [K]284
contig referenceGArg [R]284
120606172418 rs1156883185 N.D. synonymousTHis [H]387
contig referenceCHis [H]387
120608229427 rs1266825758 N.D. synonymousCPro [P]390
contig referenceTPro [P]390
120608266464 rs768630921 0.000 missenseGVal [V]1103
contig referenceAIle [I]1103
120608268466 rs889374280 N.D. synonymousAIle [I]3103
contig referenceCIle [I]3103
120608279477 rs2233110 N.D.byCluster YesmissenseAHis [H]2107
contig referenceTLeu [L]2107
120608317515 rs1285912199 N.D. missenseTSer [S]1120
contig referenceCPro [P]1120
120608319517 rs1440276285 N.D. synonymousGPro [P]3120
contig referenceTPro [P]3120
120608328526 rs1408667884 N.D. synonymousALys [K]3123
contig referenceGLys [K]3123
120608339537 rs1171220802 N.D. missenseTVal [V]2127
contig referenceCAla [A]2127
120608346544 rs1186415034 N.D. synonymousTVal [V]3129
contig referenceAVal [V]3129
120608349547 rs887885190 N.D. synonymousCAsp [D]3130
contig referenceTAsp [D]3130
120611012558 rs376777652 0.000byCluster YesmissenseTVal [V]2134
contig referenceCAla [A]2134
120611013559 rs751158107 0.000 synonymousCAla [A]3134
contig referenceTAla [A]3134
120611023569 rs757817901 0.000 missenseALys [K]1138
contig referenceGGlu [E]1138
120611038584 rs781770521 0.000 missenseAThr [T]1143
contig referenceGAla [A]1143
120611043589 rs1342284625 N.D. synonymousGLeu [L]3144
contig referenceALeu [L]3144
120611069615 rs867867687 N.D.byCluster missenseAGlu [E]2153
contig referenceCAla [A]2153
120611074620 rs750777684 0.000 missenseAAsn [N]1155
missenseCHis [H]1155
contig referenceGAsp [D]1155
120612190632 rs759305493 0.000byFreq missenseAIle [I]1159
contig referenceGVal [V]1159
120612195637 rs1357916844 N.D. synonymousTAsn [N]3160
contig referenceCAsn [N]3160
120612204646 rs1225732950 N.D. synonymousCIle [I]3163
contig referenceTIle [I]3163
120612232674 rs1291904561 N.D. missenseAAsn [N]1173
contig referenceGAsp [D]1173
120612258700 rs141129087 0.000byClusterbyFreq YessynonymousCTyr [Y]3181
contig referenceTTyr [Y]3181
120612319761 rs1454964653 N.D. -
1206126611103 rs1288581179 N.D. -
1206126641106 rs1211037782 N.D. -
1206126701112 rs1398796502 N.D. -
1206126761118 rs1335221543 N.D. -
1206126821124 rs1175886763 N.D. -
1206126881130 rs1293758857 N.D. -
1206129261368 rs1293567794 N.D. -
1206132661708 rs1288198817 N.D. -
1206151603602 rs1254663317 N.D. -
1206154513893 rs1356390744 N.D. -
1206160764518 rs1473603823 N.D. -
1206167375179 rs761008548 N.D.byCluster -
1206171265568 rs1386511531 N.D. -
1206171815623 rs199750166 N.D.byClusterWith1000GenomeData -
1206171815623 rs949564781 N.D. -
1206171815623 rs1045268743 N.D. -
1206175616003 rs1435827592 N.D. -
1206177276169 rs1188078782 N.D. -
1206177716213 rs1488695059 N.D. -
1206177976239 rs1336605290 N.D. -
1206182566698 rs1168197984 N.D. -
1206182816723 rs200796896 0.014byClusterbyFreqWith1000GenomeData0.0072 -
1206187177159 rs1486569760 N.D. -
1206194997941 rs1316239472 N.D. -
1206198538295 rs780275468 0.001With1000GenomeData0.0003 -
1206202698711 rs1277774621 N.D. -
1206204598901 rs1477557649 N.D. -
1206204628904 rs1238430713 N.D. -
1206204628904 rs1452675941 N.D. -
1206204628904 rs1475880008 N.D. -
1206204828924 rs796924846 N.D. -
1206204838925 rs1426188948 N.D. -
1206205408982 rs1485409923 N.D. -
1206210569498 rs1183232913 N.D. -
1206210889530 rs1239400585 N.D. -
1206211079549 rs1027834815 N.D. -
1206211109552 rs774594565 0.001With1000GenomeData0.0003 -