Skip to main content

dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
SNP linked to Gene (geneID:7100) 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): 9
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_003268.5minus strandNP_003259.2reverseNT_004487.20GRCh38<- currently shown
XM_006711507.1minus strandXP_006711570.1reverseNT_004487.20GRCh38View snp on GeneModel
XM_006711506.1minus strandXP_006711569.1reverseNT_004487.20GRCh38View snp on GeneModel
XM_006711505.1minus strandXP_006711568.1reverseNT_004487.20GRCh38View snp on GeneModel
XM_006711504.1minus strandXP_006711567.1reverseNT_004487.20GRCh38View snp on GeneModel
XM_006711503.1minus strandXP_006711566.1reverseNT_004487.20GRCh38View snp on GeneModel
XM_005273243.2minus strandXP_005273300.2reverseNT_004487.20GRCh38View snp on GeneModel
XM_005273242.2minus strandXP_005273299.2reverseNT_004487.20GRCh38View snp on GeneModel
XM_005273241.2minus strandXP_005273298.2reverseNT_004487.20GRCh38View snp on GeneModel

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38NT_004487.20NM_003268.5NP_003259.2reverseminus strand156, coding

Region Chr.
dbSNP rs#
cluster id
Validation MAF Allele
3D Linkout Function dbSNP
Amino acid
2231104613212 rs55902128 N.D.0.0028 YessynonymousTIle [I]3857
contig referenceCIle [I]3857
2231104653208 rs145537963 N.D.0.0008 YesmissenseTIle [I]2856
contig referenceCThr [T]2856
2231104953178 rs5744177 N.D.0.0040 YesmissenseGGly [G]2846
contig referenceAAsp [D]2846
2231105013172 rs561311101 N.D. missenseGArg [R]2844
contig referenceALys [K]2844
2231105093164 rs1053954 N.D.0.0357 YessynonymousGLys [K]3841
synonymousGLys [K]3841
contig referenceALys [K]3841
contig referenceALys [K]3841
2231105363137 rs148851950 N.D.0.0002 YessynonymousGLeu [L]3832
contig referenceCLeu [L]3832
2231105393134 rs75283814 N.D.0.0022 YessynonymousGLys [K]3831
contig referenceALys [K]3831
2231105683105 rs7512943 N.D. missenseTPhe [F]1822
contig referenceCLeu [L]1822
2231106203053 rs556539700 N.D.0.0002 synonymousGGln [Q]3804
contig referenceAGln [Q]3804
2231106283045 rs375526841 N.D. YesnonsenseT1802
contig referenceALys [K]1802
2231106573016 rs368649518 N.D. YesmissenseCAla [A]2792
contig referenceTVal [V]2792
2231106723001 rs371593723 N.D. YesmissenseCPro [P]2787
contig referenceTLeu [L]2787
2231106782995 rs367917275 N.D. YesmissenseAAsn [N]2785
contig referenceGSer [S]2785
2231106962977 rs138722306 0.001byClusterbyFreq YesmissenseATyr [Y]2779
contig referenceGCys [C]2779
2231107052968 rs148125956 N.D.0.0002 YesmissenseGArg [R]2776
contig referenceAGln [Q]2776
2231107092964 rs200421693 0.002 YesmissenseAThr [T]1775
contig referenceGAla [A]1775
2231107142959 rs142543605 N.D.0.0004 YesmissenseAAsn [N]2773
contig referenceGSer [S]2773
2231107272946 rs56243703 N.D.0.0018 YesmissenseTPhe [F]1769
contig referenceCLeu [L]1769
2231107462927 rs184754321 N.D.0.0002 YessynonymousTPhe [F]3762
contig referenceCPhe [F]3762
2231107492924 rs55773023 N.D.0.0022 YesmissenseAGln [Q]3761
contig referenceCHis [H]3761
2231107692904 rs55870046 N.D. YesmissenseAIle [I]1755
contig referenceGVal [V]1755
2231107712902 rs150499113 0.000 YesmissenseCThr [T]2754
contig referenceTIle [I]2754
2231107782895 rs78098893 N.D.0.0028 YesmissenseGGly [G]1752
contig referenceAArg [R]1752
2231108142859 rs200954588 N.D.byCluster YesmissenseTCys [C]1740
contig referenceCArg [R]1740
2231108302843 rs375449906 N.D. YessynonymousCPhe [F]3734
contig referenceTPhe [F]3734
2231108402833 rs139598062 0.000 YesmissenseGGly [G]2731
contig referenceAGlu [E]2731
2231108512822 rs529200434 N.D.0.0004 synonymousALeu [L]3727
contig referenceGLeu [L]3727
2231108722801 rs142143294 N.D.0.0006 YesmissenseAArg [R]3720
contig referenceTSer [S]3720
2231108862787 rs562507188 N.D.0.0002 missenseAAsn [N]1716
contig referenceGAsp [D]1716
2231109052768 rs369809872 N.D. YessynonymousCAsn [N]3709
contig referenceTAsn [N]3709
2231109082765 rs200775737 N.D.0.0020 YesmissenseCHis [H]3708
contig referenceGGln [Q]3708
2231109102763 rs375393172 N.D. YesnonsenseT1708
contig referenceCGln [Q]1708
2231109132760 rs200184447 0.002 YesmissenseAMet [M]1707
contig referenceGVal [V]1707
2231109512722 rs5744176 N.D.0.0006 YesmissenseGGly [G]2694
contig referenceAAsp [D]2694
2231110722601 rs190259436 N.D.0.0002 YesmissenseTPhe [F]1654
contig referenceCLeu [L]1654
2231110932580 rs369950876 N.D. YesmissenseTSer [S]1647
contig referenceAThr [T]1647
2231111022571 rs5744175 N.D.0.0040 YesmissenseTPhe [F]1644
contig referenceAIle [I]1644
2231111072565 rs34379644 N.D. Yesframe shiftTHis [H]1644
contig reference-Ile [I]1644
2231111202553 rs372465306 N.D. YesmissenseGVal [V]1638
contig referenceCLeu [L]1638
2231111272546 rs549621197 N.D.0.0002 synonymousGLeu [L]3635
contig referenceALeu [L]3635
2231111552518 rs367599952 N.D. YesmissenseTMet [M]2626
contig referenceCThr [T]2626
2231111622511 rs200165647 N.D.0.0002 YesmissenseGVal [V]1624
contig referenceCLeu [L]1624
2231111802493 rs151335961 N.D. YesmissenseAArg [R]1618
contig referenceGGly [G]1618
2231111862487 rs5744174 N.D.0.2903 YesmissenseCLeu [L]1616
contig referenceTPhe [F]1616
2231111872486 rs201722274 N.D.0.0010 YessynonymousASer [S]3615
contig referenceGSer [S]3615
2231112102463 rs375747719 N.D. YesmissenseTLeu [L]1608
contig referenceAIle [I]1608
2231112392434 rs5744173 N.D. YesmissenseCThr [T]2598
contig referenceAAsn [N]2598
2231112422431 rs543960860 N.D. missenseAAsn [N]2597
contig referenceCThr [T]2597
2231112982375 rs5744172 N.D.0.0008 YessynonymousCHis [H]3578
contig referenceTHis [H]3578
2231113142359 rs74602829 0.500 YesmissenseCAla [A]2573
contig referenceTVal [V]2573
2231113222351 rs553874087 N.D.0.0002 synonymousGSer [S]3570
contig referenceASer [S]3570
2231113252348 rs572228250 N.D.0.0002 synonymousGVal [V]3569
contig referenceAVal [V]3569
2231113352338 rs540002612 N.D.0.0002 missenseGGly [G]2566
contig referenceAAsp [D]2566
2231113712302 rs138917078 N.D.0.0014 YesmissenseGGly [G]2554
contig referenceAAsp [D]2554
2231113812292 rs201909983 N.D.0.0002 YesmissenseCGln [Q]1551
contig referenceGGlu [E]1551
2231113872286 rs147287900 0.000 YesmissenseGAsp [D]1549
contig referenceAAsn [N]1549
2231113892284 rs140469324 N.D.0.0016 YesmissenseAAsp [D]2548
missenseGGly [G]2548
missenseTVal [V]2548
contig referenceCAla [A]2548
2231114012272 rs373385629 N.D. YesmissenseGSer [S]2544
contig referenceAAsn [N]2544
2231114032270 rs376645434 N.D. YesmissenseGGln [Q]3543
contig referenceCHis [H]3543
2231114092264 rs532564169 N.D. synonymousCLeu [L]3541
contig referenceTLeu [L]3541
2231114202253 rs371169156 N.D. YessynonymousTLeu [L]1538
contig referenceCLeu [L]1538
2231114252248 rs374385844 N.D. YesmissenseGSer [S]2536
contig referenceAAsn [N]2536
2231114482225 rs149015951 0.000 YessynonymousGLeu [L]3528
contig referenceALeu [L]3528
2231114502223 rs201580291 0.002byCluster YesmissenseGVal [V]1528
contig referenceTLeu [L]1528
2231114682205 rs146553187 N.D.0.0002 YesmissenseCLeu [L]1522
contig referenceTPhe [F]1522
2231115332140 rs532978317 N.D.0.0002 missenseAGlu [E]2500
contig referenceGGly [G]2500
2231115732100 rs5744171 N.D.0.0038 YesmissenseAIle [I]1487
contig referenceCLeu [L]1487
2231116032070 rs561474557 N.D. missenseGGlu [E]1477
contig referenceCGln [Q]1477
2231116232050 rs200564461 N.D.0.0002 YesmissenseTLeu [L]2470
contig referenceCSer [S]2470
2231116292044 rs34720310 N.D. Yesframe shift-Leu [L]2469
contig referenceCPro [P]2469
2231116432030 rs374737488 N.D. YessynonymousCCys [C]3463
contig referenceTCys [C]3463
2231116502023 rs201019501 N.D.0.0002 YesmissenseTPhe [F]2461
contig referenceCSer [S]2461
2231116562017 rs529835713 N.D. missenseAHis [H]2459
contig referenceGArg [R]2459
2231116642009 rs5744170 N.D.0.0014 YessynonymousCAsn [N]3456
contig referenceTAsn [N]3456
2231116961977 rs200696063 0.002 YesmissenseTTrp [W]1446
contig referenceCArg [R]1446
2231117001973 rs5744169 N.D.0.0202 YessynonymousTLeu [L]3444
contig referenceCLeu [L]3444
2231117471926 rs531911365 N.D.0.0002 missenseTTyr [Y]1429
contig referenceCHis [H]1429
2231117571916 rs550493136 N.D.0.0002 synonymousAAla [A]3425
contig referenceGAla [A]3425
2231118571816 rs144418928 N.D.0.0008 YesmissenseAGln [Q]2392
contig referenceGArg [R]2392
2231118611812 rs553763265 N.D.0.0002 missenseGVal [V]1391
contig referenceCLeu [L]1391
2231118731800 rs147164861 N.D.0.0008 YesnonsenseT1387
contig referenceCGln [Q]1387
2231118761797 rs367738050 N.D. YesmissenseAIle [I]1386
contig referenceTLeu [L]1386
2231118951778 rs371582939 N.D. YessynonymousTThr [T]3379
contig referenceAThr [T]3379
2231119621711 rs150402905 N.D.0.0004 YesmissenseGCys [C]2357
contig referenceATyr [Y]2357
2231119631710 rs199534030 N.D. YesmissenseAAsn [N]1357
contig referenceTTyr [Y]1357
2231119711702 rs139394912 N.D.0.0002 YesmissenseTLeu [L]2354
contig referenceCSer [S]2354
2231119911682 rs199758690 0.002 YessynonymousCLeu [L]3347
contig referenceTLeu [L]3347
2231119961677 rs368186586 N.D. YesmissenseTTyr [Y]1346
contig referenceAAsn [N]1346
2231120211652 rs141216515 0.000 YessynonymousTAsn [N]3337
contig referenceCAsn [N]3337
2231120291644 rs372392516 N.D. YesmissenseTPhe [F]1335
contig referenceCLeu [L]1335
2231120331640 rs146811440 N.D.0.0006 YessynonymousTTyr [Y]3333
contig referenceCTyr [Y]3333
2231120771596 rs369461892 N.D. YesmissenseTPhe [F]1319
contig referenceCLeu [L]1319
2231120931580 rs138119490 N.D.0.0008 YesmissenseGGlu [E]3313
contig referenceTAsp [D]3313
2231121161557 rs149592573 N.D.0.0006 YesnonsenseT1306
contig referenceCArg [R]1306
2231121241549 rs200275813 0.001With1000GenomeData YesmissenseCPro [P]2303
contig referenceTLeu [L]2303
2231121271546 rs577882778 N.D.0.0002 missenseTPhe [F]2302
contig referenceCSer [S]2302
2231121421531 rs569929741 N.D. missenseGArg [R]2297
contig referenceAHis [H]2297
2231121451528 rs368559197 N.D. YesnonsenseA2296
contig referenceCSer [S]2296
2231121651508 rs74851800 N.D.0.0088 YessynonymousCSer [S]3289
contig referenceASer [S]3289
2231121851488 rs564224792 N.D. missenseTSer [S]1283
contig referenceGAla [A]1283
2231121881484 rs34242580 N.D. Yesframe shiftTCys [C]3283
contig reference-Ala [A]3283
2231122311442 rs200513847 0.003 YessynonymousTAla [A]3267
contig referenceCAla [A]3267
2231122361437 rs199532936 N.D.0.0002 YesmissenseTCys [C]1266
contig referenceGGly [G]1266
2231122381435 rs138236503 0.000 YesmissenseCThr [T]2265
contig referenceTMet [M]2265
2231122401433 rs527336791 N.D.0.0002 missenseGMet [M]3264
contig referenceCIle [I]3264
2231122591414 rs138703616 N.D. YesnonsenseA2258
contig referenceTLeu [L]2258
2231122851388 rs542794325 N.D.0.0002 synonymousTAla [A]3249
contig referenceCAla [A]3249
2231122921381 rs201656581 0.002 YesmissenseAAsn [N]2247
contig referenceGSer [S]2247
2231122981375 rs561316186 N.D.0.0002 missenseGSer [S]2245
contig referenceAAsn [N]2245
2231123551318 rs531968564 N.D.0.0004 missenseALys [K]2226
contig referenceTMet [M]2226
2231123861287 rs550126845 N.D.0.0002 missenseCArg [R]1216
contig referenceTTrp [W]1216
2231124001273 rs372280067 N.D. YesmissenseTIle [I]2211
contig referenceGArg [R]2211
2231124111262 rs144760792 0.000 YessynonymousTSer [S]3207
contig referenceCSer [S]3207
2231124291244 rs141971532 N.D.0.0004 YessynonymousCPhe [F]3201
contig referenceTPhe [F]3201
2231124311242 rs4140966 N.D. YesmissenseCLeu [L]1201
contig referenceTPhe [F]1201
2231124421231 rs146146738 0.000 YesmissenseTMet [M]2197
contig referenceCThr [T]2197
2231124611212 rs374665316 N.D. YesmissenseALys [K]1191
contig referenceGGlu [E]1191
2231124831190 rs199968010 N.D.0.0002 YessynonymousTPhe [F]3183
contig referenceCPhe [F]3183
2231124911182 rs45528236 N.D.0.0503 YesmissenseALys [K]1181
contig referenceCGln [Q]1181
2231125401133 rs565782780 N.D.0.0002 synonymousCPro [P]3164
contig referenceTPro [P]3164
2231125551118 rs536338164 N.D.0.0002 synonymousTSer [S]3159
contig referenceCSer [S]3159
2231125591114 rs146082990 N.D.0.0018 YesmissenseAHis [H]2158
contig referenceGArg [R]2158
2231125601113 rs145281488 N.D.0.0002 YesmissenseTCys [C]1158
contig referenceCArg [R]1158
2231125681105 rs138976900 N.D.0.0006 YesmissenseCThr [T]2155
contig referenceAAsn [N]2155
2231125761097 rs147636573 0.000 YessynonymousCLeu [L]3152
contig referenceALeu [L]3152
2231125861087 rs372708351 N.D.0.0002 YesmissenseAHis [H]2149
contig referenceGArg [R]2149
2231126041069 rs5744167 N.D.0.0204 YesmissenseCThr [T]2143
contig referenceAAsn [N]2143
2231126261047 rs199729222 N.D.0.0004 YessynonymousCLeu [L]1136
contig referenceTLeu [L]1136
2231126291044 rs376078428 N.D. YesmissenseAIle [I]1135
contig referenceGVal [V]1135
2231126331040 rs553801406 N.D.0.0002 synonymousCAsp [D]3133
contig referenceTAsp [D]3133
2231126671006 rs369789289 N.D. YesmissenseCSer [S]2122
contig referenceTPhe [F]2122
223112691982 rs369383147 N.D. YesmissenseGGly [G]2114
contig referenceCAla [A]2114
223112697976 rs374080914 N.D. YesmissenseGArg [R]2112
contig referenceCPro [P]2112
223112698975 rs5744166 N.D.0.0088 YesmissenseGAla [A]1112
contig referenceCPro [P]1112
223112710963 rs142128289 N.D.0.0002 YesmissenseCHis [H]1108
contig referenceTTyr [Y]1108
223112716957 rs55989382 N.D. YesmissenseGGlu [E]1106
contig referenceALys [K]1106
223112752921 rs201896501 N.D. YesmissenseGVal [V]194
contig referenceCLeu [L]194
223112787886 rs764535 N.D.0.0036 YesmissenseTIle [I]282
missenseTIle [I]282
contig referenceCThr [T]282
contig referenceCThr [T]282
223112796877 rs140168611 0.000byCluster YesmissenseAAsn [N]279
contig referenceGSer [S]279
223112813860 rs148506161 N.D.0.0006 YessynonymousAGln [Q]373
contig referenceGGln [Q]373
223112834839 rs55740004 N.D. YesmissenseGLeu [L]366
contig referenceCPhe [F]366
223112837836 rs377663706 N.D.0.0002 YessynonymousGSer [S]365
contig referenceCSer [S]365
223112842831 rs565339073 N.D.0.0002 missenseCPro [P]164
contig referenceTSer [S]164
223112849824 rs5744165 N.D.0.0100 YessynonymousTVal [V]361
contig referenceCVal [V]361
223112855818 rs371154339 N.D. YesmissenseCSer [S]359
contig referenceGArg [R]359
223112862811 rs145198431 0.000 YesmissenseGCys [C]257
contig referenceATyr [Y]257
223112865808 rs547723824 N.D.0.0004 missenseGSer [S]256
contig referenceAAsn [N]256
223112873800 rs56233936 N.D. YessynonymousCLeu [L]353
contig referenceGLeu [L]353
223112904769 rs370739294 N.D. YesmissenseGArg [R]243
contig referenceAGln [Q]243
223112921752 rs142223042 0.000 YesmissenseALys [K]337
contig referenceCAsn [N]337
223112931742 rs187499609 N.D.0.0004 YesmissenseAHis [H]234
contig referenceGArg [R]234
223112934739 rs201940750 N.D.0.0002 YesmissenseGCys [C]233
contig referenceATyr [Y]233
223112947726 rs200942023 N.D.0.0002 YesnonsenseT129
contig referenceCArg [R]129
223112953720 rs377323041 N.D. YesmissenseAAsn [N]127
contig referenceGAsp [D]127
223112990683 rs145674456 0.000 missenseAIle [I]314
contig referenceGMet [M]314
223113007666 rs143463633 0.000 synonymousTLeu [L]19
contig referenceCLeu [L]19

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement