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dbSNP

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SNP linked to Gene (geneID:6606) 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): 13
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_000344.3plus strandNP_000335.1forwardNT_034772.7GRCh38.p7<- currently shown
NM_000344.3plus strandNP_000335.1forwardNT_187651.1GRCh38.p7View snp on GeneModel
NM_000344.3minus strandNP_000335.1reverseNW_003315917.2GRCh38.p7View snp on GeneModel
XM_017009786.1plus strandXP_016865275.1forwardNT_034772.7GRCh38.p7View snp on GeneModel
XM_011543598.2plus strandXP_011541900.1forwardNT_034772.7GRCh38.p7View snp on GeneModel
XM_011543597.1plus strandXP_011541899.1forwardNT_034772.7GRCh38.p7View snp on GeneModel
XM_011543596.1plus strandXP_011541898.1forwardNT_034772.7GRCh38.p7View snp on GeneModel
NM_022874.2minus strandNP_075012.1reverseNW_003315917.2GRCh38.p7View snp on GeneModel
NM_022874.2plus strandNP_075012.1forwardNT_187651.1GRCh38.p7View snp on GeneModel
NM_022874.2plus strandNP_075012.1forwardNT_034772.7GRCh38.p7View snp on GeneModel
NM_001297715.1minus strandNP_001284644.1reverseNW_003315917.2GRCh38.p7View snp on GeneModel
NM_001297715.1plus strandNP_001284644.1forwardNT_187651.1GRCh38.p7View snp on GeneModel
NM_001297715.1plus strandNP_001284644.1forwardNT_034772.7GRCh38.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_034772.7NM_000344.3NP_000335.1forwardplus strand63, 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
70925109169 rs1481869218 N.D. synonymousAAla [A]32
contig referenceGAla [A]32
70925113173 rs1446964734 N.D. missenseGGly [G]14
contig referenceASer [S]14
70925116176 rs1259001921 N.D. missenseGGly [G]15
contig referenceASer [S]15
70925118178 rs987462955 N.D. synonymousTSer [S]35
contig referenceCSer [S]35
70925119179 rs1208576707 N.D. missenseTCys [C]16
contig referenceGGly [G]16
70925123183 rs1267335967 N.D. (15bp) [SGGGV]212
70925124184 rs1469170828 N.D. synonymousTGly [G]37
contig referenceCGly [G]37
70925125185 rs1221447932 N.D. missenseCArg [R]18
contig referenceASer [S]18
70925128188 rs1195941718 N.D. missenseTCys [C]19
contig referenceGGly [G]19
70925146206 rs79310136 N.D.byCluster missenseALys [K]115
missenseGGlu [E]115
contig referenceCGln [Q]115
70925147207 rs1245780296 N.D. -216
70925166226 rs1448525953 N.D. synonymousTPhe [F]321
contig referenceCPhe [F]321
70925180240 rs1170466474 N.D. missenseAAsp [D]226
contig referenceGGly [G]226
70925184244 rs1346785706 N.D. synonymousAGln [Q]327
contig referenceGGln [Q]327
70941443371 rs796462131 N.D.byCluster frame shiftGTGTArg [R]170
contig reference-Pro [P]170
70942486565 rs77668214 N.D.byCluster frame shiftAGAGArg [R]3135
contig reference-Glu [E]3135
70942497576 rs77491186 N.D.byCluster missenseCPro [P]2138
contig referenceTLeu [L]2138
70942527606 rs75991011 N.D.byCluster frame shiftGAAGTLys [K]2149
contig reference-Ala [A]2149
70942546625 rs4915 0.314byClusterbyFreq synonymousGGln [Q]3154
synonymousGGln [Q]3154
contig referenceAGln [Q]3154
contig referenceAGln [Q]3154
70942801721 rs80145309 N.D. frame shiftAIle [I]3187
contig reference-Ser [S]3187
70942801721 rs796541855 N.D. frame shift-Asn [N]3186
contig referenceALys [K]3186
70944660793 rs1157575099 N.D. frame shift-Val [V]3211
contig referenceAGly [G]3211
70944666799 rs1420286625 N.D. synonymousGLeu [L]3212
contig referenceALeu [L]3212
70944679812 rs1242763717 N.D. -1225
70944681814 rs1280965059 N.D. CCACCG [PP]3226
70944682815 rs1265341884 N.D. missenseTSer [S]1218
contig referenceCPro [P]1218
70944692825 rs1336155324 N.D. missenseTLeu [L]2221
contig referenceCPro [P]2221
70944694827 rs1215894449 N.D. -1226
70944699832 rs1266644522 N.D. synonymousGPro [P]3223
contig referenceAPro [P]3223
70944713846 rs79784540 N.D. nonsenseA2228
contig referenceTLeu [L]2228
70946111932 rs77871384 N.D.byCluster missenseAThr [T]1257
contig referenceGAla [A]1257
70946165986 rs77301881 N.D. missenseASer [S]1275
contig referenceGGly [G]1275
70951941998 rs77969175 N.D.byCluster missenseASer [S]1279
missenseTCys [C]1279
contig referenceGGly [G]1279
709519461003 rs1164325688 N.D. missenseGLeu [L]3280
synonymousTPhe [F]3280
contig referenceCPhe [F]3280
709519471004 rs1482083567 N.D. synonymousCArg [R]1281
contig referenceAArg [R]1281
709519511008 rs1362572815 N.D. missenseGArg [R]2282
contig referenceAGln [Q]2282
709519561013 rs1199331007 N.D. missenseALys [K]1284
contig referenceCGln [Q]1284
709519571014 rs761035766 0.000 missenseCPro [P]2284
contig referenceAGln [Q]2284
709519591016 rs1475940018 N.D. frame shift-Ala [A]1288
contig referenceAAAGArg [R]1288
709519621019 rs1179910122 N.D. frame shift-Ala [A]1288
contig referenceGAAGArg [R]1288
709519641021 rs771373290 0.000 synonymousGGlu [E]3286
contig referenceAGlu [E]3286
709519681025 rs1472645065 N.D. missenseGGly [G]1288
contig referenceAArg [R]1288
709519701027 rs368899583 0.000byClusterbyFreq missenseTSer [S]3288
contig referenceGArg [R]3288
709519711028 rs187925143 0.000byFreqWith1000GenomeData0.0002 missenseASer [S]1289
contig referenceTCys [C]1289
709519721029 rs765273240 0.000 missenseTPhe [F]2289
contig referenceGCys [C]2289
709519731030 rs1464746262 N.D. missenseGTrp [W]3289
synonymousTCys [C]3289
contig referenceCCys [C]3289
709519811038 rs752943507 0.000 missenseTPhe [F]2292
contig referenceCSer [S]2292
709519901047 rs1376143496 N.D. synonymousG2295
contig referenceA2295