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H-Invitational ID: HIT000033723 Accession number: BC008323 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Creatine kinase B-type; EC=2.7.3.2; B-CK; Creatine kinase B chain;
 
 

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
80 .. 80 G/T rs146055152 - CDS Nonsynonymous[Ser6Ile]
84 .. 84 C/G rs142728438 - CDS Nonsynonymous[His7Gln]
88 .. 88 G/T rs200381467 - CDS Nonsynonymous[Ala9Ser]
105 .. 105 C/T rs139265353 - CDS Synonymous[Phe14Phe]
108 .. 108 G/A rs11545351 + CDS Synonymous[Pro15Pro]
127 .. 127 G/A rs11545347 + CDS Nonsynonymous[Asp22Asn]
139 .. 139 C/T rs11545352 + CDS Nonsynonymous[His26Tyr]
153 .. 153 G/A rs79794690 - CDS Nonsynonymous[Met30Ile]
169 .. 169 C/A rs11545350 + CDS Nonsynonymous[Pro36Thr]
186 .. 186 G/C rs2984134 + CDS Nonsynonymous[Glu41Asp]
187 .. 187 C/G rs2985905 + CDS Nonsynonymous[Leu42Val]
239 .. 239 C/T rs11545344 + CDS Nonsynonymous[Thr59Ile]
261 .. 261 C/T rs11545345 + CDS Synonymous[His66His]
263 .. 263 C/A rs11545348 + CDS Nonsynonymous[Pro67Gln]
310 .. 310 G/A rs150838024 - CDS Nonsynonymous[Glu83Lys]
358 .. 358 G/T rs201438967 - CDS Nonsynonymous[Gly99Cys]
476 .. 476 G/A rs11545349 + CDS Nonsynonymous[Arg138His]
519 .. 519 A/C rs1136165 + CDS Synonymous[Arg152Arg]
562 .. 562 G/C rs200266751 - CDS Nonsynonymous[Gly167Arg]
588 .. 588 G/C rs200890896 - CDS Synonymous[Ala175Ala]
593 .. 593 A/G rs36002620 + CDS Nonsynonymous[Lys177Arg]
726 .. 726 C/T rs141472120 - CDS Synonymous[Asp221Asp]
730 .. 730 A/G rs201488531 - CDS Nonsynonymous[Lys223Glu]
753 .. 753 C/T rs199734997 - CDS Synonymous[Asn230Asn]
804 .. 804 G/A rs148243589 - CDS Synonymous[Lys247Lys]
862 .. 862 A/G rs13558 + CDS Nonsynonymous[Lys267Glu]
869 .. 869 A/G rs146047573 - CDS Nonsynonymous[Tyr269Cys]
896 .. 896 G/A rs200360815 - CDS Nonsynonymous[Gly278Asp]
930 .. 930 C/T rs143711516 - CDS Synonymous[Thr289Thr]
942 .. 942 A/G rs138229520 - CDS Synonymous[Ala293Ala]
989 .. 989 C/T rs35156510 + CDS Nonsynonymous[Ser309Leu]
999 .. 999 T/G rs202131879 - CDS Synonymous[Leu312Leu]
1014 .. 1014 T/A rs3208514 + CDS Synonymous[Leu317Leu]
1064 ^ 1065 -/T rs35430697 - CDS
1065 .. 1065 C/A rs1803284 + CDS Nonsynonymous[Phe334Leu]
1140 .. 1140 G/A rs34509468 + CDS Synonymous[Leu359Leu]
1141 .. 1141 C/T rs12505 + CDS Nonsynonymous[Leu360Phe]
1145 .. 1145 T/C rs145462676 - CDS Nonsynonymous[Ile361Thr]
1155 .. 1155 A/G rs1803283 + CDS Synonymous[Glu364Glu]
1166 ^ 1167 -/G rs34356817 - CDS
1176 .. 1176 G/A rs140798864 - CDS Synonymous[Gln371Gln]
1200 .. 1200 C/T rs61730319 - CDS Synonymous[Ala379Ala]
1255 .. 1255 T/A rs112974559 - 3'UTR
1324 .. 1324 A/G rs1064582 + 3'UTR
1336 .. 1336 C/T rs11545353 - 3'UTR
1369 .. 1369 A/G rs36002867 + 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
Mini-G

 Repeat  Repeat mask viewer
No data available
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene;  Repeat mask viewerRepeat Mask Viewer