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SNP linked to Gene (geneID:4729) 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_021074.4plus strandNP_066552.2forwardNT_010859.15GRCh38.p7<- currently shown
XM_017025782.1plus strandXP_016881271.1forwardNT_010859.15GRCh38.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_010859.15NM_021074.4NP_066552.2forwardplus strand171, 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
9102749120 rs547252886 0.000With1000GenomeData0.0002 synonymousTPhe [F]32
contig referenceCPhe [F]32
9102751122 rs758463496 0.000byFreq missenseCSer [S]23
contig referenceTPhe [F]23
9102752123 rs1005439454 N.D. synonymousTPhe [F]33
contig referenceCPhe [F]33
9102754125 rs777760311 0.000byFreq missenseGCys [C]24
contig referenceCSer [S]24
9102757128 rs771291959 0.000byFreq missenseAGlu [E]25
missenseTVal [V]25
contig referenceCAla [A]25
9102759130 rs768403602 0.000 missenseAThr [T]16
contig referenceGAla [A]16
9102760131 rs559485096 0.001byFreqWith1000GenomeData0.0002 Uncertain significancemissenseGGly [G]26
contig referenceCAla [A]26
9102762133 rs771712491 0.000byFreq missenseGVal [V]17
contig referenceCLeu [L]17
9102764135 rs376478122 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousGLeu [L]37
contig referenceCLeu [L]37
9102765136 rs1042226771 N.D. missenseTTrp [W]18
contig referenceCArg [R]18
9102769140 rs890369537 N.D. missenseTVal [V]29
contig referenceCAla [A]29
9102771142 rs760685057 0.000 missenseGGly [G]110
contig referenceCArg [R]110
9102772143 rs1035730836 N.D. missenseTLeu [L]210
contig referenceGArg [R]210
9102775146 rs766190286 0.000 missenseGGly [G]211
missenseTVal [V]211
contig referenceCAla [A]211
9102786157 rs776531231 0.000byFreq missenseGAla [A]115
contig referenceAThr [T]115
9102787158 rs759234439 0.000 missenseTIle [I]215
contig referenceCThr [T]215
9102789160 rs765504285 0.000byClusterbyFreq missenseAThr [T]116
contig referenceGAla [A]116
9102790161 rs752917508 0.000 missenseGGly [G]216
contig referenceCAla [A]216
9102793164 rs758553542 0.000 missenseGArg [R]217
contig referenceAHis [H]217
9102794165 rs764178231 0.000 missenseGGln [Q]317
contig referenceCHis [H]317
9102795166 rs751550238 0.000 missenseCArg [R]118
contig referenceTTrp [W]118
9102797168 rs757820958 0.000 missenseCCys [C]318
contig referenceGTrp [W]318
9117842173 rs773207798 0.000 missenseTIle [I]220
contig referenceGArg [R]220
9117845176 rs754873418 0.000byClusterbyFreq frame shift-Arg [R]221
contig referenceATHis [H]221
9117847178 rs557695781 0.000byFreqWith1000GenomeData0.0004 missenseAIle [I]122
missenseCLeu [L]122
contig referenceGVal [V]122
9117857188 rs199997775 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseCSer [S]225
contig referenceTLeu [L]225
9117859190 rs760057857 0.000 missenseTTyr [Y]126
contig referenceCHis [H]126
9117860191 rs765537985 0.000byFreq missenseGArg [R]226
contig referenceAHis [H]226
9117868199 rs1040254682 N.D. missenseCLeu [L]129
contig referenceGVal [V]129
9117869200 rs906807 0.320byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData0.2210 othermissenseCAla [A]229
contig referenceTVal [V]229
9117872203 rs1024384224 N.D. missenseCThr [T]230
contig referenceTMet [M]230
9117899230 rs756896914 0.000byFreq missenseGCys [C]239
contig referenceTPhe [F]239
9117901232 rs75362221 0.002byClusterbyFreqWith1000GenomeData0.0040 Benign missenseAMet [M]140
contig referenceGVal [V]140
9119326235 rs202166758 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTTyr [Y]141
contig referenceCHis [H]141
9119332241 rs370466523 0.000byCluster missenseAAsn [N]143
contig referenceGAsp [D]143
9119343252 rs760147679 0.000byFreq synonymousAGlu [E]346
contig referenceGGlu [E]346
9119344253 rs373803180 0.000byCluster missenseGAsp [D]147
contig referenceAAsn [N]147
9119345254 rs763882642 0.000byFreq -248
9119349258 rs765740177 0.000 synonymousTAsn [N]348
contig referenceCAsn [N]348
9119351260 rs528296333 0.000byFreqWith1000GenomeData0.0002 missenseTLeu [L]249
contig referenceCPro [P]249
9119352261 rs763361243 0.000byFreq synonymousGPro [P]349
contig referenceTPro [P]349
9119357266 rs142405606 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAAsn [N]251
missenseTIle [I]251
contig referenceCThr [T]251
9119359268 rs151299130 0.000byCluster missenseGAla [A]152
missenseTSer [S]152
contig referenceCPro [P]152
9119362271 rs753671571 0.000 frame shift-Leu [L]153
contig referenceTPhe [F]153
9119368277 rs926298501 N.D. missenseGVal [V]155
contig referenceTPhe [F]155
9119372281 rs765897035 0.000 missenseTIle [I]256
contig referenceCThr [T]256
9119374283 rs981230307 N.D. missenseTSer [S]157
contig referenceCPro [P]157
9119380289 rs367649556 0.000byClusterbyFreq missenseGAsp [D]159
contig referenceAAsn [N]159
9119383292 rs936561432 N.D. missenseCHis [H]160
contig referenceTTyr [Y]160
9119475299 rs770259847 0.000 missenseALys [K]262
contig referenceGArg [R]262
9119480304 rs776058736 0.000byFreq missenseCGln [Q]164
contig referenceGGlu [E]164
9119482306 rs761235301 0.000 synonymousAGlu [E]364
contig referenceGGlu [E]364
9119489313 rs1052026719 N.D. missenseAIle [I]167
contig referenceGVal [V]167
9119491315 rs41274300 0.156byClusterbyFreqWith1000GenomeData0.0751 YesLikely benignsynonymousTVal [V]367
synonymousTVal [V]367
contig referenceAVal [V]367
contig referenceAVal [V]367
9119491315 rs750082630 0.000byClusterbyFreq -368
9119493317 rs774649439 0.000 missenseCThr [T]268
contig referenceALys [K]268
9119497321 rs760351418 0.000 missenseGLys [K]369
contig referenceCAsn [N]369
9119508332 rs765985175 0.000 missenseAAsp [D]273
contig referenceGGly [G]273
9119513337 rs753396575 0.000 missenseCGln [Q]175
contig referenceALys [K]175
9119516340 rs754499401 0.000 missenseAThr [T]176
contig referenceGAla [A]176
9119525349 rs368515386 0.000byClusterbyFreq YesmissenseCLeu [L]179
missenseTPhe [F]179
contig referenceGVal [V]179
9119540364 rs752688140 0.000byFreq missenseAAsn [N]184
missenseTTyr [Y]184
contig referenceGAsp [D]184
9119545369 rs371902664 0.000byCluster YessynonymousGLeu [L]385
contig referenceALeu [L]385
9119570394 rs898940223 N.D. missenseTSer [S]194
contig referenceCPro [P]194
9119572396 rs751364764 0.000 synonymousTPro [P]394
contig referenceCPro [P]394
9119582406 rs757598928 0.000 missenseGVal [V]198
contig referenceAMet [M]198
9122530432 rs780214530 0.000byFreq synonymousGGln [Q]3106
contig referenceAGln [Q]3106
9122531433 rs749790803 0.000 missenseAIle [I]1107
contig referenceGVal [V]1107
9122531433 rs775072837 N.D. frame shiftTThr [T]1108
contig reference-Pro [P]1108
9122534436 rs147110431 0.000byClusterbyFreqWith1000GenomeData0.0010 YesmissenseAThr [T]1108
missenseTSer [S]1108
contig referenceCPro [P]1108
9122535437 rs778975791 0.000 missenseGArg [R]2108
contig referenceCPro [P]2108
9122536438 rs748301196 0.000byFreq synonymousAPro [P]3108
contig referenceTPro [P]3108
9122540442 rs773361651 0.000 missenseGVal [V]1110
contig referenceAMet [M]1110
9122544446 rs373689008 0.000byClusterbyFreq YesmissenseCThr [T]2111
contig referenceGArg [R]2111
9122545447 rs769512075 0.000 synonymousGArg [R]3111
contig referenceAArg [R]3111
9122552454 rs775453673 0.000 missenseALys [K]1114
contig referenceGGlu [E]1114
9122555457 rs201379044 0.000byClusterWith1000GenomeData YesmissenseAIle [I]1115
contig referenceGVal [V]1115
9122557459 rs748657695 0.000 (12bp) [ATFY]3119
9122572474 rs763634255 0.000 synonymousTThr [T]3120
contig referenceAThr [T]3120
9122574476 rs773996340 0.000 missenseCThr [T]2121
contig referenceTMet [M]2121
9122575477 rs200422010 N.D.With1000GenomeData YesmissenseAIle [I]3121
contig referenceGMet [M]3121
9122576478 rs761469134 0.000 missenseCHis [H]1122
contig referenceTTyr [Y]1122
9122577479 rs767178414 0.000byFreq missenseGCys [C]2122
contig referenceATyr [Y]2122
9122579481 rs1015444586 N.D. missenseGAsp [D]1123
contig referenceAAsn [N]1123
9122581483 rs750083732 0.000 missenseGLys [K]3123
contig referenceTAsn [N]3123
9122582484 rs756471675 N.D. missenseGGly [G]1124
contig referenceCArg [R]1124
9122583485 rs377682934 0.000byClusterbyFreq YesmissenseCPro [P]2124
contig referenceGArg [R]2124
9122587489 rs766675386 0.000 synonymousALys [K]3125
contig referenceGLys [K]3125
9122588490 rs199560855 0.000byClusterWith1000GenomeData0.0002 YesmissenseAThr [T]1126
contig referenceCPro [P]1126
9122592494 rs755479137 0.000byFreq missenseCAla [A]2127
contig referenceTVal [V]2127
9122593495 rs76552443 0.227byClusterbyFreq YessynonymousCVal [V]3127
contig referenceTVal [V]3127
9122600502 rs749684852 N.D. missenseCHis [H]1130
contig referenceTTyr [Y]1130
9122604506 rs748211137 0.000 missenseTLeu [L]2131
contig referenceAHis [H]2131
9122605507 rs370934998 0.000byCluster YessynonymousTHis [H]3131
contig referenceCHis [H]3131
9122605507 rs756653973 0.000 frame shiftAAsn [N]3132
contig reference-Ile [I]3132
9122613515 rs72935225 0.141byClusterbyFreq YesmissenseCAla [A]2134
contig referenceTVal [V]2134
9122614516 rs778020274 0.000 synonymousTVal [V]3134
contig referenceCVal [V]3134
9122618520 rs747222475 0.000byFreq missenseCPro [P]1136
missenseGAla [A]1136
contig referenceAThr [T]1136
9122621523 rs775155515 0.000 missenseGAla [A]1137
contig referenceAThr [T]1137
9122625527 rs778070737 0.000 frame shiftAThr [T]2139
contig reference-Pro [P]2139
9122626528 rs768223661 0.000byCluster synonymousCThr [T]3138
contig referenceAThr [T]3138
9122627529 rs886054124 N.D. Uncertain significancemissenseAThr [T]1139
contig referenceCPro [P]1139
9122627529 rs991535618 N.D. missenseTSer [S]1139
contig referenceCPro [P]1139
9122633535 rs141981639 0.000byCluster YesmissenseGVal [V]1141
contig referenceAMet [M]1141
9122639541 rs768703151 0.000byFreq nonsenseT1143
contig referenceCArg [R]1143
9122640542 rs148158107 0.020byClusterbyFreq YesUncertain significancemissenseAGln [Q]2143
missenseCPro [P]2143
contig referenceGArg [R]2143
9122641543 rs968871773 N.D. synonymousCArg [R]3143
contig referenceAArg [R]3143
9122644546 rs749693247 0.000byFreq frame shift-3145
contig referenceCTSer [S]3145
9122644546 rs977615770 N.D. synonymousTAsn [N]3144
contig referenceCAsn [N]3144
9122646548 rs771236417 0.000byFreq frame shiftT2146
contig reference-Asp [D]2146
9122647549 rs901824724 N.D. synonymousCSer [S]3145
contig referenceTSer [S]3145
9122649551 rs766968467 0.000 missenseCAla [A]2146
contig referenceAAsp [D]2146
9122660562 rs374109639 N.D. YesmissenseALys [K]1150
contig referenceGGlu [E]1150
9122665567 rs772872170 0.000 synonymousTAla [A]3151
contig referenceCAla [A]3151
9122666568 rs866590378 N.D. missenseCLeu [L]1152
contig referenceAIle [I]1152
9124880590 rs951475426 N.D. missenseGArg [R]2159
contig referenceALys [K]2159
9124882592 rs768613111 0.000 missenseAIle [I]1160
contig referenceGVal [V]1160
9124895605 rs774391458 0.000 missenseTIle [I]2164
contig referenceCThr [T]2164
9124897607 rs992657654 N.D. missenseTSer [S]1165
contig referenceCPro [P]1165
9124907617 rs748118531 0.000byFreq missenseCPro [P]2168
contig referenceTLeu [L]2168
9124911621 rs201708711 0.000byClusterbyFreqWith1000GenomeData0.0002 YesmissenseGLeu [L]3169
contig referenceCPhe [F]3169
9124914624 rs201074358 0.000byClusterbyFreq YesUncertain significancesynonymousCThr [T]3170
contig referenceTThr [T]3170
9124915625 rs948233582 N.D. missenseGVal [V]1171
contig referenceCLeu [L]1171
9124919629 rs138472116 0.000byClusterbyFreqWith1000GenomeData0.0004 YesLikely benignmissenseCThr [T]2172
contig referenceTIle [I]2172
9124920630 rs770474514 0.000byFreq missenseGMet [M]3172
contig referenceAIle [I]3172
9124924634 rs1010469051 N.D. missenseAMet [M]1174
contig referenceGVal [V]1174
9124926636 rs776310932 0.000 synonymousAVal [V]3174
contig referenceGVal [V]3174
9124934644 rs759858782 0.000byFreq missenseCSer [S]2177
contig referenceTLeu [L]2177
9124944654 rs149259710 0.000byClusterbyFreq YessynonymousCCys [C]3180
contig referenceTCys [C]3180
9124950660 rs143576401 0.001byClusterbyFreqWith1000GenomeData0.0008 YesUncertain significancesynonymousTAsn [N]3182
contig referenceCAsn [N]3182
9124952662 rs763378243 0.000 missenseTVal [V]2183
contig referenceCAla [A]2183
9124954664 rs764731983 0.000 missenseTSer [S]1184
contig referenceCPro [P]1184
9124955665 rs751581167 0.000 missenseTLeu [L]2184
contig referenceCPro [P]2184
9124957667 rs377456305 0.000byClusterbyFreq YesUncertain significancemissenseGVal [V]1185
contig referenceAMet [M]1185
9124964674 rs781534334 0.000 missenseGArg [R]2187
contig referenceAGln [Q]2187
9124966676 rs750706147 0.000byFreq missenseGVal [V]1188
contig referenceAIle [I]1188
9124973683 rs371040282 0.000byCluster YesLikely pathogenicmissenseGGly [G]2190
contig referenceAAsp [D]2190
9124976686 rs200691654 0.000byClusterWith1000GenomeData0.0002 YesmissenseGSer [S]2191
contig referenceAAsn [N]2191
9124978688 rs565032078 0.000byFreqWith1000GenomeData0.0002 missenseAAsn [N]1192
contig referenceTTyr [Y]1192
9124980690 rs748030541 0.000 synonymousTTyr [Y]3192
contig referenceCTyr [Y]3192
9124982692 rs771897446 0.000byFreq missenseGCys [C]2193
contig referenceATyr [Y]2193
9126834697 rs777537998 0.000 missenseCHis [H]1195
contig referenceGAsp [D]1195
9126837700 rs746994984 0.000 synonymousCLeu [L]1196
contig referenceTLeu [L]1196
9126855718 rs770374112 0.000 missenseALys [K]1202
contig referenceGGlu [E]1202
9126858721 rs149217248 0.000byClusterWith1000GenomeData0.0002 YesnonsenseT1203
contig referenceGGlu [E]1203
9126867730 rs745452533 0.000 missenseTTyr [Y]1206
contig referenceGAsp [D]1206
9126871734 rs769426825 0.000 missenseTVal [V]2207
contig referenceAGlu [E]2207
9126873736 rs866569556 N.D. missenseTPhe [F]1208
contig referenceCLeu [L]1208
9126877740 rs775174756 0.000byFreq missenseGArg [R]2209
contig referenceALys [K]2209
9126878741 rs568512775 N.D.byCluster missenseTAsn [N]3209
contig referenceGLys [K]3209
9126879742 rs749586530 0.000 missenseTSer [S]1210
contig referenceGAla [A]1210
9126888751 rs769096681 0.000 missenseGVal [V]1213
contig referenceAIle [I]1213
9126898761 rs370590394 0.000byCluster missenseTLeu [L]2216
contig referenceCPro [P]2216
9126903766 rs762397050 0.000 missenseAThr [T]1218
contig referenceCPro [P]1218
9126904767 rs373888389 0.000byClusterbyFreq missenseTLeu [L]2218
contig referenceCPro [P]2218
9134188773 rs368914351 0.000byCluster missenseAAsn [N]2220
contig referenceGSer [S]2220
9134193778 rs772693645 0.000byFreq missenseTCys [C]1222
contig referenceCArg [R]1222
9134194779 rs773902917 0.000 missenseAHis [H]2222
contig referenceGArg [R]2222
9134198783 rs772188600 0.000byClusterbyFreq frame shiftGVal [V]3224
contig reference-Ser [S]3224
9134200785 rs760803817 0.000 missenseTPhe [F]2224
contig referenceCSer [S]2224
9134212797 rs1015092375 N.D. missenseAAsp [D]2228
contig referenceCAla [A]2228
9134217802 rs766594788 0.000byFreq missenseASer [S]1230
contig referenceGGly [G]1230
9134219804 rs776665182 0.000 synonymousGGly [G]3230
contig referenceTGly [G]3230
9134223808 rs534384070 0.000With1000GenomeData0.0002 missenseCPro [P]1232
contig referenceAThr [T]1232
9134224809 rs546302509 0.000With1000GenomeData0.0002 missenseGSer [S]2232
contig referenceCThr [T]2232
9134224809 rs754403488 0.000 frame shift-Leu [L]2233
contig referenceCSer [S]2233
9134230815 rs778365317 0.000byClusterbyFreq frame shift-Asn [N]2235
contig referenceTGACThr [T]2235
9134242827 rs765447977 0.000byFreq missenseAHis [H]2238
contig referenceCPro [P]2238
9134265850 rs148032289 0.000byCluster nonsenseT1246
contig referenceCGln [Q]1246
9134269854 rs757095576 0.000 missenseGGly [G]2247
contig referenceCAla [A]2247
9134276861 rs368784815 0.000byClusterbyFreq synonymousGLeu [L]3249
contig referenceTLeu [L]3249

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