Transcript #00003401

Transcript name creatine kinase, brain
Gene name CKB (creatine kinase, brain)
Chromosome 14
Transcript - NCBI ID NM_001823.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_001814.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

52 entries on 1 page. Showing entries 1 - 52.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-12-3C>T r.spl? p.?
?/? c.-9G>A r.(=) p.(=)
?/? c.17G>T r.(?) p.(Ser6Ile)
?/? c.21C>G r.(?) p.(His7Gln)
?/? c.42C>T r.(=) p.(=)
?/? c.66C>T r.(=) p.(=)
?/? c.193+21G>A r.(=) p.(=)
?/? c.193+24del r.(=) p.(=)
?/? c.193+44_193+45insC r.(=) p.(=)
?/? c.194-34C>T r.(=) p.(=)
?/? c.194-32T>C r.(=) p.(=)
?/? c.194-22C>T r.(=) p.(=)
?/? c.247G>A r.(?) p.(Glu83Lys)
?/? c.349-4C>G r.spl? p.?
?/? c.456C>A r.(=) p.(=)
?/? c.482-42G>A r.(=) p.(=)
?/? c.482-26G>C r.(=) p.(=)
?/? c.604C>T r.(=) p.(=)
?/? c.636C>G r.(=) p.(=)
?/? c.653+14T>A r.(=) p.(=)
?/? c.653+24C>T r.(=) p.(=)
?/? c.654-49C>T r.(=) p.(=)
?/? c.663C>T r.(=) p.(=)
?/? c.726G>T r.(?) p.(Lys242Asn)
?/? c.741G>A r.(=) p.(=)
?/? c.744G>C r.(?) p.(Glu248Asp)
?/? c.754C>T r.(?) p.(Arg252Cys)
?/? c.777+30A>G r.(=) p.(=)
?/? c.777+33G>A r.(=) p.(=)
?/? c.777+51G>A r.(=) p.(=)
?/? c.806A>G r.(?) p.(Tyr269Cys)
?/? c.809A>G r.(?) p.(Glu270Gly)
?/? c.829C>T r.(=) p.(=)
?/? c.867C>T r.(=) p.(=)
?/? c.879A>G r.(=) p.(=)
?/? c.926C>T r.(?) p.(Ser309Leu)
?/? c.931G>A r.(?) p.(Val311Met)
?/? c.967+3G>T r.spl? p.?
?/? c.967+8G>A r.(=) p.(=)
?/? c.967+21G>A r.(=) p.(=)
?/? c.968-37G>A r.(=) p.(=)
?/? c.968-8C>T r.(=) p.(=)
?/? c.982G>A r.(?) p.(Ala328Thr)
?/? c.1005C>T r.(=) p.(=)
?/? c.1075C>T r.(=) p.(=)
?/? c.1077G>A r.(=) p.(=)
?/? c.1082T>C r.(?) p.(Ile361Thr)
?/? c.1092G>A r.(=) p.(=)
?/? c.1113G>A r.(=) p.(=)
?/? c.1137C>T r.(=) p.(=)
?/? c.*27C>T r.(=) p.(=)
?/? c.*46T>A r.(=) p.(=)
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