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SNP linked to Gene (geneID:5175) 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): 11
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_000442.4minus strandNP_000433.4reverseNT_010783.16GRCh38.p7<- currently shown
XM_017024741.1minus strandXP_016880230.1reverseNT_010783.16GRCh38.p7View snp on GeneModel
XM_017024740.1minus strandXP_016880229.1reverseNT_010783.16GRCh38.p7View snp on GeneModel
XM_017024739.1minus strandXP_016880228.1reverseNT_010783.16GRCh38.p7View snp on GeneModel
XM_017024738.1minus strandXP_016880227.1reverseNT_010783.16GRCh38.p7View snp on GeneModel
XM_011524890.1minus strandXP_011523192.1reverseNT_010783.16GRCh38.p7View snp on GeneModel
XM_011524889.2minus strandXP_011523191.1reverseNT_010783.16GRCh38.p7View snp on GeneModel
XM_005276883.2minus strandXP_005276940.1reverseNT_010783.16GRCh38.p7View snp on GeneModel
XM_005276882.1minus strandXP_005276939.1reverseNT_010783.16GRCh38.p7View snp on GeneModel
XM_005276881.1minus strandXP_005276938.1reverseNT_010783.16GRCh38.p7View snp on GeneModel
XM_005276880.1minus strandXP_005276937.1reverseNT_010783.16GRCh38.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_010783.16NM_000442.4NP_000433.4reverseminus strand131, 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
643238162429 rs782429577 0.000 synonymousA2739
contig reference-2739
643238212425 rs376154013 0.000byClusterbyFreq YesmissenseTSer [S]1738
contig referenceAThr [T]1738
643238312415 rs782139639 0.000 synonymousTSer [S]3734
contig referenceCSer [S]3734
643238352411 rs782771887 0.000byFreq missenseCAla [A]2733
contig referenceGGly [G]2733
643238382408 rs782059676 0.000byFreq missenseGGly [G]2732
contig referenceAGlu [E]2732
643238392407 rs782683834 0.000 missenseALys [K]1732
contig referenceGGlu [E]1732
643238402406 rs781899608 0.000byFreq synonymousAThr [T]3731
contig referenceGThr [T]3731
643238412405 rs782523890 0.000byFreq missenseTMet [M]2731
contig referenceCThr [T]2731
643238432403 rs782776776 0.000 synonymousGArg [R]3730
contig referenceAArg [R]3730
643297012399 rs374641874 0.000byClusterbyFreq YesmissenseTPhe [F]2729
contig referenceCSer [S]2729
643297022398 rs782168253 0.000 missenseGAla [A]1729
contig referenceTSer [S]1729
643297052395 rs563007811 0.000byFreqWith1000GenomeData0.0006 missenseCHis [H]1728
contig referenceTTyr [Y]1728
643297092391 rs187016261 0.000byFreqWith1000GenomeData0.0002 missenseAArg [R]3726
synonymousTSer [S]3726
contig referenceCSer [S]3726
643297132387 rs782743507 0.000 missenseCAla [A]2725
contig referenceAGlu [E]2725
643297172383 rs541440037 0.000byFreqWith1000GenomeData0.0004 missenseAMet [M]1724
contig referenceGVal [V]1724
643297182382 rs537981954 0.000byClusterbyFreq synonymousTAla [A]3723
contig referenceCAla [A]3723
643297222378 rs368999530 0.001byClusterbyFreqWith1000GenomeData0.0002 YesmissenseCAla [A]2722
contig referenceAAsp [D]2722
643416472364 rs930565593 N.D. synonymousAArg [R]3717
contig referenceGArg [R]3717
643416482363 rs1049476072 N.D. missenseAGln [Q]2717
contig referenceGArg [R]2717
643416492362 rs888945036 N.D. missenseTTrp [W]1717
contig referenceCArg [R]1717
643416682343 rs943147813 N.D. missenseTAsp [D]3710
contig referenceGGlu [E]3710
643416732338 rs1040233268 N.D. missenseGAla [A]1709
contig referenceAThr [T]1709
643416902321 rs901568854 N.D. missenseGGly [G]2703
contig referenceAAsp [D]2703
643482942286 rs1030601624 N.D. synonymousAThr [T]3691
contig referenceGThr [T]3691
643503982239 rs949829987 N.D. missenseTSer [S]1676
contig referenceCPro [P]1676
643504162221 rs1131012 0.477byClusterbyFreqwithHapMapFreqWith1000GenomeData missenseGGly [G]1670
missenseGGly [G]1670
missenseGGly [G]1670
missenseGGly [G]1670
contig referenceAArg [R]1670
contig referenceAArg [R]1670
contig referenceAArg [R]1670
contig referenceAArg [R]1670
643504172220 rs908266261 N.D. synonymousGVal [V]3669
contig referenceCVal [V]3669
643504182219 rs941112960 N.D. missenseCAla [A]2669
contig referenceTVal [V]2669
643504192218 rs1038430721 N.D. missenseTPhe [F]1669
contig referenceGVal [V]1669
643504232214 rs899530776 N.D. synonymousTAsp [D]3667
contig referenceCAsp [D]3667
643524112182 rs902393332 N.D. missenseGVal [V]1657
contig referenceAMet [M]1657
643524332160 rs999368463 N.D. synonymousTAsn [N]3649
contig referenceCAsn [N]3649
643524392154 rs7211869 0.180byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData synonymousTSer [S]3647
synonymousTSer [S]3647
synonymousTSer [S]3647
contig referenceCSer [S]3647
contig referenceCSer [S]3647
contig referenceCSer [S]3647
643524522141 rs45552934 N.D.byCluster missenseTLeu [L]2643
contig referenceCPro [P]2643
643549482086 rs1029985265 N.D. synonymousTLeu [L]1625
contig referenceCLeu [L]1625
643549782056 rs956311271 N.D. missenseGVal [V]1615
missenseTPhe [F]1615
contig referenceCLeu [L]1615
643549942040 rs989432239 N.D. synonymousTIle [I]3609
contig referenceCIle [I]3609
643561441960 rs1034575787 N.D. missenseGGly [G]1583
contig referenceASer [S]1583
643561511953 rs896092877 N.D. synonymousTHis [H]3580
contig referenceCHis [H]3580
643561551949 rs1014417611 N.D. missenseGSer [S]2579
contig referenceAAsn [N]2579
643561861918 rs1025844711 N.D. missenseCGln [Q]1569
contig referenceGGlu [E]1569
643562031901 rs12953 0.440byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData missenseAAsn [N]2563
missenseAAsn [N]2563
missenseAAsn [N]2563
missenseAAsn [N]2563
missenseAAsn [N]2563
missenseAAsn [N]2563
contig referenceGSer [S]2563
contig referenceGSer [S]2563
contig referenceGSer [S]2563
contig referenceGSer [S]2563
contig referenceGSer [S]2563
contig referenceGSer [S]2563
643562121892 rs984181137 N.D. missenseGArg [R]2560
contig referenceAGln [Q]2560
643562201884 rs1017439972 N.D. missenseTCys [C]3557
contig referenceGTrp [W]3557
643562661838 rs963986944 N.D. missenseAAsp [D]2542
contig referenceGGly [G]2542
643562681836 rs975405952 N.D. missenseCAsp [D]3541
missenseTAsp [D]3541
contig referenceGGlu [E]3541
643562791825 rs921835362 N.D. missenseGGly [G]1538
contig referenceAArg [R]1538
643562971807 rs933270015 N.D. missenseGVal [V]1532
contig referenceAIle [I]1532
643563071797 rs11540684 N.D. synonymousCGly [G]3528
contig referenceAGly [G]3528
643563091795 rs987704584 N.D. missenseAArg [R]1528
contig referenceGGly [G]1528
643563521752 rs2229391 0.123byClusterbyFreqwithHapMapFreq synonymousAVal [V]3513
contig referenceGVal [V]3513
643563941710 rs35139902 0.060byClusterbyFreq synonymousAPro [P]3499
contig referenceGPro [P]3499
643563951709 rs1042779107 N.D. missenseTLeu [L]2499
contig referenceCPro [P]2499
643601801665 rs1131010 0.220byClusterbyFreqwithHapMapFreqWith1000GenomeData synonymousCHis [H]3484
contig referenceTHis [H]3484
643602151630 rs969158986 N.D. missenseALys [K]1473
contig referenceGGlu [E]1473
643602191626 rs980458266 N.D. synonymousTAsp [D]3471
contig referenceCAsp [D]3471
643602311614 rs927579187 N.D. synonymousTAsn [N]3467
contig referenceCAsn [N]3467
643602611584 rs939038106 N.D. synonymousTAsn [N]3457
contig referenceCAsn [N]3457
643602651580 rs972697478 N.D. missenseGArg [R]2456
contig referenceALys [K]2456
643602731572 rs919530225 N.D. synonymousCAsn [N]3453
contig referenceTAsn [N]3453
643602891556 rs930796913 N.D. missenseAAsn [N]2448
contig referenceGSer [S]2448
643603031542 rs1049250999 N.D. missenseCHis [H]3443
contig referenceAGln [Q]3443
643603331512 rs889191070 N.D. synonymousCSer [S]3433
contig referenceGSer [S]3433
643603381507 rs943489339 N.D. missenseALys [K]1432
contig referenceGGlu [E]1432
643603391506 rs878946458 N.D.byClusterwithHapMapFreq synonymousTCys [C]3431
contig referenceCCys [C]3431
643603431502 rs199816177 N.D.byCluster missenseAHis [H]2430
contig referenceGArg [R]2430
643603551490 rs998884706 N.D. missenseAAsn [N]2426
contig referenceCThr [T]2426
643603711474 rs1052333548 N.D. missenseAIle [I]1421
contig referenceGVal [V]1421
643603981447 rs892416412 N.D. missenseTTrp [W]1412
contig referenceAArg [R]1412
643604051440 rs1010737441 N.D. synonymousTSer [S]3409
contig referenceCSer [S]3409
643631531425 rs899803214 N.D. synonymousGVal [V]3404
contig referenceAVal [V]3404
643631551423 rs996876302 N.D. missenseAIle [I]1404
contig referenceGVal [V]1404
643631561422 rs1050755758 N.D. synonymousTVal [V]3403
contig referenceCVal [V]3403
643632161362 rs890407884 N.D. synonymousAThr [T]3383
contig referenceGThr [T]3383
643632171361 rs1008730500 N.D. missenseTMet [M]2383
contig referenceCThr [T]2383
643632291349 rs1020087957 N.D. missenseTLeu [L]2379
contig referenceCSer [S]2379
643632721306 rs967210903 N.D. missenseGVal [V]1365
contig referenceAIle [I]1365
643633441234 rs1000322072 N.D. missenseALys [K]1341
contig referenceGGlu [E]1341
643633671211 rs1032779310 N.D. missenseTPhe [F]2333
contig referenceCSer [S]2333
643633701208 rs958596721 N.D. missenseTPhe [F]2332
contig referenceCSer [S]2332
643633771201 rs991199932 N.D. missenseAMet [M]1330
contig referenceCLeu [L]1330
643633801198 rs200623026 N.D.byCluster missenseALys [K]1329
contig referenceGGlu [E]1329
643697621168 rs933860550 N.D. missenseAIle [I]1319
contig referenceGVal [V]1319
643697651165 rs1052793471 N.D. missenseAMet [M]1318
contig referenceGVal [V]1318
643697711159 rs913710889 N.D. missenseGGly [G]1316
contig referenceASer [S]1316
643697881142 rs946564658 N.D. missenseAHis [H]2310
contig referenceGArg [R]2310
643698081122 rs1043469553 N.D. synonymousTThr [T]3303
contig referenceGThr [T]3303
643698091121 rs904985246 N.D. missenseTMet [M]2303
contig referenceCThr [T]2303
643698401090 rs1001822660 N.D. missenseGVal [V]1293
contig referenceAMet [M]1293
643698551075 rs1056018063 N.D. missenseAThr [T]1288
contig referenceGAla [A]1288
643698581072 rs896164453 N.D. missenseGGlu [E]1287
contig referenceALys [K]1287
643698681062 rs993736449 N.D. synonymousGArg [R]3283
contig referenceAArg [R]3283
643698861044 rs1027002366 N.D. synonymousAAla [A]3277
contig referenceGAla [A]3277
643699131017 rs952229505 N.D. synonymousCPro [P]3268
contig referenceAPro [P]3268
643699151014 rs36153854 N.D. frame shiftCArg [R]3269
contig reference-Glu [E]3269
64370003927 rs1006831373 N.D. synonymousTPhe [F]3238
contig referenceCPhe [F]3238
64370006924 rs1017696339 N.D. synonymousALys [K]3237
contig referenceGLys [K]3237
64370016914 rs964748842 N.D. missenseGCys [C]2234
contig referenceCSer [S]2234
64370022908 rs976170903 N.D. missenseGCys [C]2232
contig referenceCSer [S]2232
64375052903 rs1048293889 N.D. synonymousAThr [T]3230
contig referenceGThr [T]3230
64375053902 rs888267329 N.D. missenseTMet [M]2230
contig referenceCThr [T]2230
64375055900 rs1006663946 N.D. synonymousCVal [V]3229
contig referenceGVal [V]3229
64375058897 rs118195022 0.500 synonymousTThr [T]3228
contig referenceCThr [T]3228
64375109846 rs900849807 N.D. synonymousAIle [I]3211
contig referenceTIle [I]3211
64375147808 rs998224476 N.D. missenseCHis [H]1199
contig referenceGAsp [D]1199
64375159796 rs1031213164 N.D. missenseAIle [I]1195
contig referenceGVal [V]1195
64375160795 rs956990062 N.D. synonymousTPro [P]3194
contig referenceCPro [P]3194
64375191764 rs1011102664 N.D. missenseAGln [Q]2184
contig referenceGArg [R]2184
64375224731 rs1022444853 N.D. missenseCThr [T]2173
contig referenceALys [K]2173
64375234721 rs969507114 N.D. synonymousTLeu [L]1170
contig referenceCLeu [L]1170
64375240715 rs980894957 N.D. missenseTPhe [F]1168
contig referenceCLeu [L]1168
64375261694 rs928004779 N.D. missenseGVal [V]1161
contig referenceAIle [I]1161
64375301654 rs960741942 N.D. synonymousTIle [I]3147
contig referenceCIle [I]3147
64375313642 rs972514161 N.D. synonymousTIle [I]3143
contig referenceCIle [I]3143
64375352603 rs919252611 N.D. synonymousAVal [V]3130
contig referenceGVal [V]3130
64377829593 rs987636216 N.D. missenseCAla [A]2127
contig referenceTVal [V]2127
64377836586 rs281865545 0.493byClusterbyFreqwithHapMapFreqWith1000GenomeData untestedmissenseCLeu [L]1125
contig referenceGVal [V]1125
64377897525 rs967462171 N.D. synonymousGSer [S]3104
contig referenceASer [S]3104
64377942480 rs978796417 N.D. synonymousALys [K]389
contig referenceGLys [K]389
64377953469 rs925993821 N.D. missenseGAla [A]186
contig referenceTSer [S]186
64377999423 rs937308784 N.D. synonymousAGln [Q]370
contig referenceGGln [Q]370
64378044378 rs1055056999 N.D. synonymousTLeu [L]355
contig referenceGLeu [L]355
64378071351 rs916525242 N.D. synonymousAThr [T]346
contig referenceGThr [T]346
64378080342 rs949276675 N.D. synonymousAPro [P]343
contig referenceGPro [P]343
64378094328 rs1046291707 N.D. missenseGVal [V]139
contig referenceAMet [M]139
64378107315 rs200425210 N.D. synonymousAIle [I]334
contig referenceCIle [I]334
64390605274 rs890538220 N.D. missenseTPhe [F]121
contig referenceCLeu [L]121
64390630249 rs1008931747 N.D. missenseTCys [C]312
contig referenceGTrp [W]312
64390637242 rs1041722227 N.D. missenseTMet [M]210
contig referenceCThr [T]210
64390657222 rs902451999 N.D. synonymousAPro [P]33
contig referenceGPro [P]33
64390658221 rs999823352 N.D. missenseGArg [R]23
missenseTLeu [L]23
contig referenceCPro [P]23

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