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SNP linked to Gene (geneID:8915) 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): 5
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_003921.4minus strandNP_003912.1reverseNT_032977.10GRCh38.p7<- currently shown
XM_011542399.2minus strandXP_011540701.1reverseNT_032977.10GRCh38.p7View snp on GeneModel
XM_011542398.2minus strandXP_011540700.1reverseNT_032977.10GRCh38.p7View snp on GeneModel
XM_011542397.2minus strandXP_011540699.1reverseNT_032977.10GRCh38.p7View snp on GeneModel
NM_001320715.1minus strandNP_001307644.1reverseNT_032977.10GRCh38.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_032977.10NM_003921.4NP_003912.1reverseminus strand120, coding

Region Chr.
position
mRNA
pos
dbSNP rs#
cluster id
Hetero-
zygosity
Validation MAF Allele
origin
3D Clinically
Associated
Clinical
Significance
Function dbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
PubMed
852676341247 rs547793946 0.000byFreqWith1000GenomeData0.0002 missenseAGln [Q]2232
contig referenceGArg [R]2232
852676351246 rs376302558 0.000byClusterbyFreq nonsenseT1232
contig referenceCArg [R]1232
852676421239 rs767413256 0.000 synonymousCThr [T]3229
contig referenceTThr [T]3229
852676441237 rs780769969 0.000byFreq missenseTSer [S]1229
contig referenceAThr [T]1229
852676461235 rs1052221974 N.D. missenseAHis [H]2228
contig referenceGArg [R]2228
852676661215 rs754361373 0.000 missenseAIle [I]3221
contig referenceGMet [M]3221
852676831198 rs570873118 0.000byFreqWith1000GenomeData0.0004 missenseAThr [T]1216
contig referenceGAla [A]1216
852676871194 rs779442174 0.000 synonymousCThr [T]3214
contig referenceTThr [T]3214
852676911190 rs3768235 0.134byClusterbyFreqwithHapMapFreqWith1000GenomeData0.0721 missenseAGlu [E]2213
missenseAGlu [E]2213
missenseAGlu [E]2213
contig referenceGGly [G]2213
contig referenceGGly [G]2213
contig referenceGGly [G]2213
852676921187 rs587776637 0.000byClusterbyFreq Pathogenic-2212
852677011180 rs756057028 0.000 missenseCGln [Q]1210
contig referenceGGlu [E]1210
852677081173 rs915564597 N.D. synonymousGLeu [L]3207
contig referenceALeu [L]3207
852677161165 rs971492503 N.D. missenseTSer [S]1205
contig referenceCPro [P]1205
852677241157 rs772341479 0.000 missenseTLeu [L]2202
contig referenceCPro [P]2202
852677321149 rs777425344 N.D. synonymousAGly [G]3199
contig referenceGGly [G]3199
852677511130 rs943467000 N.D. missenseTLeu [L]2193
contig referenceCPro [P]2193
852677571124 rs924399685 N.D. missenseTIle [I]2191
contig referenceCThr [T]2191
852677581123 rs777846670 0.000 missenseGAla [A]1191
contig referenceAThr [T]1191
852677611120 rs556621354 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseGAla [A]1190
contig referenceAThr [T]1190
852677671114 rs770885386 0.000 missenseGAla [A]1188
contig referenceTSer [S]1188
852677761105 rs775457150 0.000 missenseGAla [A]1185
contig referenceAThr [T]1185
852677881077 rs587776634 N.D. Pathogenicframe shift-Asn [N]3176
contig reference(17bp)Val [V]3176
852677891092 rs762904134 0.000 synonymousGGly [G]3180
contig referenceCGly [G]3180
852677931088 rs61731898 0.025 missenseAGlu [E]2179
contig referenceTVal [V]2179
852677951086 rs934420766 N.D. missenseCAsp [D]3178
contig referenceAGlu [E]3178
852677961085 rs768545878 0.000 missenseGGly [G]2178
contig referenceAGlu [E]2178
852677991082 rs1038881728 N.D. missenseGArg [R]2177
contig referenceTLeu [L]2177
852678071074 rs774139089 0.000byFreq synonymousALeu [L]3174
contig referenceGLeu [L]3174
852678081073 rs201366491 0.000byClusterbyFreqWith1000GenomeData0.0004 nonsenseA2174
contig referenceTLeu [L]2174
852678091072 rs767254446 0.000 missenseAMet [M]1174
contig referenceTLeu [L]1174
852678131068 rs750037123 0.000 synonymousTLeu [L]3172
contig referenceGLeu [L]3172
852678141067 rs113133553 0.500 missenseCPro [P]2172
contig referenceTLeu [L]2172
852678161063 rs761530874 0.000 -1171
852678241057 rs760267922 0.000 missenseCHis [H]1169
contig referenceAAsn [N]1169
852678251056 rs771266125 N.D. synonymousGThr [T]3168
contig referenceTThr [T]3168
852678291051 rs387906350 N.D.byCluster Pathogenicframe shiftTPhe [F]1167
contig reference-Ser [S]1167
852678301051 rs764922765 0.000 frame shift-Leu [L]1167
contig referenceTSer [S]1167
852678401041 rs139473915 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAThr [T]3163
contig referenceGThr [T]3163
852678411040 rs370432633 0.000byClusterbyFreq PathogenicmissenseTMet [M]2163
contig referenceCThr [T]2163
852678431038 rs374017925 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAThr [T]3162
contig referenceGThr [T]3162
852678441037 rs200837308 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTMet [M]2162
contig referenceCThr [T]2162
852678681013 rs143128469 0.000byClusterWith1000GenomeData0.0002 missenseGCys [C]2154
contig referenceATyr [Y]2154
852678761005 rs758686991 0.000 synonymousGThr [T]3151
contig referenceTThr [T]3151
852678771004 rs778099607 0.000byFreq missenseTIle [I]2151
contig referenceCThr [T]2151
852678791002 rs747177560 0.000 synonymousGSer [S]3150
contig referenceCSer [S]3150
85267891990 rs757452456 0.000 missenseCAsn [N]3146
contig referenceALys [K]3146
85267901980 rs587776638 N.D. Pathogenicframe shift-Ser [S]2143
contig referenceTPhe [F]2143
85267902978 rs587776632 N.D.byCluster Pathogenicframe shiftTTLeu [L]3145
contig reference-Glu [E]3145
85267905976 rs781284853 0.000byClusterbyFreq missenseCHis [H]1142
contig referenceAAsn [N]1142
85267919962 rs151312450 0.000byCluster missenseTIle [I]2137
contig referenceAAsn [N]2137
85267919962 rs587776635 N.D. Pathogenicframe shift-Ile [I]2137
contig referenceAAsn [N]2137
85267927954 rs745885764 0.000byFreq synonymousASer [S]3134
contig referenceCSer [S]3134
85267931949 rs587776636 N.D.byCluster Pathogenicframe shiftTLeu [L]1134
contig reference-Ser [S]1134
85267933948 rs774261681 0.000 missenseALys [K]3132
contig referenceCAsn [N]3132
85267934947 rs748039228 0.000 missenseGSer [S]2132
contig referenceAAsn [N]2132
85267935946 rs367565183 0.000byCluster missenseGAsp [D]1132
contig referenceAAsn [N]1132
85267937944 rs370245790 0.000byClusterbyFreq missenseGSer [S]2131
contig referenceAAsn [N]2131
85267939942 rs1003194232 N.D. synonymousAThr [T]3130
contig referenceGThr [T]3130
85267941940 rs760264692 0.000 missenseGAla [A]1130
contig referenceAThr [T]1130
85267947934 rs1034678876 N.D. missenseCArg [R]1128
contig referenceGGly [G]1128
85267963918 rs766089591 0.000 synonymousCCys [C]3122
contig referenceTCys [C]3122
85267964917 rs776283248 0.000 missenseCSer [S]2122
contig referenceGCys [C]2122
85267966914 rs773197133 0.000 CAGSer [S]2121
85267969912 rs759056975 0.000byFreq synonymousTSer [S]3120
contig referenceCSer [S]3120
85267978903 rs765912911 0.000 synonymousTLeu [L]3117
contig referenceALeu [L]3117
85267979902 rs753115014 0.000 missenseCPro [P]2117
contig referenceTLeu [L]2117
85270618898 rs578093714 0.000With1000GenomeData0.0002 missenseAArg [R]1116
contig referenceGGly [G]1116
85270619897 rs587776631 N.D. Pathogenicframe shift-Asp [D]3116
contig referenceAGly [G]3116
85270626890 rs775016059 0.000 missenseTLeu [L]2113
contig referenceAHis [H]2113
85270631885 rs763402710 0.000 synonymousGLeu [L]3111
contig referenceALeu [L]3111
85270638878 rs764598279 0.000 missenseCThr [T]2109
contig referenceTIle [I]2109
85270641875 rs751886308 0.000 missenseGSer [S]2108
contig referenceAAsn [N]2108
85270670846 rs762156408 0.000byFreq synonymousALys [K]398
contig referenceGLys [K]398
85270675841 rs150019339 0.001byClusterbyFreqWith1000GenomeData0.0010 missenseGGlu [E]197
contig referenceCGln [Q]197
85270676840 rs142355465 0.000byCluster missenseGMet [M]396
contig referenceAIle [I]396
85270678838 rs756231389 0.000byFreq missenseGVal [V]196
contig referenceAIle [I]196
85270679837 rs780017880 0.000byFreq synonymousCLeu [L]395
contig referenceGLeu [L]395
85270682833 rs34585657 N.D. frame shiftCPro [P]295
contig reference-Leu [L]295
85270683833 rs753911557 0.000 missenseCSer [S]294
contig referenceTPhe [F]294
85270692823 rs1027681039 N.D. frame shiftAAsn [N]191
contig reference-Thr [T]191
85270698818 rs368393957 0.000byClusterbyFreq missenseCAla [A]289
missenseGGly [G]289
contig referenceAGlu [E]289
85270701815 rs147850504 0.000byClusterbyFreq missenseAGln [Q]288
contig referenceGArg [R]288
85270702814 rs770819167 0.000 nonsenseT188
contig referenceCArg [R]188
85270703813 rs773109957 N.D. synonymousAArg [R]387
contig referenceGArg [R]387
85270704812 rs187744101 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAGln [Q]287
contig referenceGArg [R]287
85270705811 rs949558985 N.D. missenseTTrp [W]187
contig referenceCArg [R]187
85270727789 rs368714977 0.000byCluster synonymousALeu [L]379
contig referenceGLeu [L]379
85270733782 rs587776633 N.D.byCluster Pathogenicframe shiftAArg [R]278
contig reference-Gly [G]278
85270736780 rs980956314 N.D. synonymousGPro [P]376
contig referenceAPro [P]376
85270741775 rs926882267 N.D. missenseCHis [H]175
contig referenceAAsn [N]175
85270759757 rs745539994 0.000byFreq synonymousCLeu [L]169
contig referenceTLeu [L]169
85270762754 rs749530949 N.D. synonymousCLeu [L]168
contig referenceTLeu [L]168
85270771745 rs573975640 0.000With1000GenomeData0.0002 missenseAThr [T]165
contig referenceGAla [A]165
85270783733 rs542952039 0.000byFreqWith1000GenomeData0.0002 missenseGGly [G]161
contig referenceASer [S]161
85270787729 rs762470627 0.000byFreq synonymousGThr [T]359
contig referenceAThr [T]359
85270792724 rs121918314 N.D.byCluster PathogenicnonsenseT158
missenseGGly [G]158
contig referenceCArg [R]158
85270799717 rs769105226 0.000byFreq synonymousAIle [I]355
contig referenceTIle [I]355
85270801714 rs587776630 N.D.byCluster Pathogenicframe shiftAAsn [N]355
contig reference-Ile [I]355
85270808708 rs774921761 0.000 synonymousCThr [T]352
contig referenceTThr [T]352
85270823693 rs545282295 N.D.byCluster synonymousTLeu [L]347
contig referenceCLeu [L]347
85270827688 rs387906351 N.D.byCluster Pathogenicframe shiftAAsn [N]146
contig reference-Ile [I]146
85270828688 rs587776639 0.000byClusterbyFreq Pathogenicframe shift-Tyr [Y]146
contig referenceAIle [I]146
85270832684 rs762201657 0.000byFreq synonymousGLys [K]344
contig referenceALys [K]344
85270836680 rs199860465 N.D.byCluster missenseAGlu [E]243
contig referenceCAla [A]243
85270841675 rs767842296 0.000 synonymousGLeu [L]341
contig referenceALeu [L]341
85270843673 rs552918584 0.000byFreqWith1000GenomeData0.0002 synonymousTLeu [L]141
contig referenceCLeu [L]141
85270844672 rs372671550 0.000 synonymousCHis [H]340
contig referenceTHis [H]340
85270882634 rs760915277 0.000 synonymousTLeu [L]128
contig referenceCLeu [L]128
85270886630 rs771239853 0.000 synonymousGVal [V]326
synonymousTVal [V]326
contig referenceAVal [V]326
85270901615 rs753875241 0.000 synonymousGLeu [L]321
contig referenceALeu [L]321
85276299606 rs757265980 0.000byFreq missenseCAsn [N]318
synonymousALys [K]318
contig referenceGLys [K]318
85276314591 rs750303514 0.000 synonymousTLeu [L]313
contig referenceCLeu [L]313
85276320585 rs755937538 0.000byFreq synonymousAGlu [E]311
contig referenceGGlu [E]311
85276324581 rs944883661 N.D. missenseCAla [A]210
contig referenceAGlu [E]210
85276326579 rs779616837 0.000 synonymousTThr [T]39
contig referenceCThr [T]39
85276329576 rs11576939 0.399byClusterbyFreqwithHapMapFreqWith1000GenomeData0.2282 synonymousGLeu [L]38
contig referenceCLeu [L]38
85276339566 rs778423633 0.000byFreq missenseGGly [G]25
contig referenceCAla [A]25
85276340565 rs12037217 0.056byClusterbyFreqWith1000GenomeData0.0349 missenseTSer [S]15
contig referenceGAla [A]15
85276344561 rs201883949 0.000byClusterWith1000GenomeData0.0002 synonymousTPro [P]33
contig referenceCPro [P]33
85276347558 rs200626032 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousAGlu [E]32
contig referenceGGlu [E]32

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