Transcript #00000034

Transcript name centrosomal protein 57kDa, transcript variant 3
Gene name CEP57 (centrosomal protein 57)
Chromosome 11
Transcript - NCBI ID NM_001243777.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001230706.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

109 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-33C>A r.(=) p.(=)
./. - c.44C>T r.(?) p.(Ser15Leu)
./. - c.46-43T>C r.(=) p.(=)
./. - c.46-21A>G r.(=) p.(=)
./. - c.46-21A>G r.(=) p.(=)
./. - c.46-21A>G r.(=) p.(=)
./. - c.46-21A>G r.(=) p.(=)
./. - c.46-21A>G r.(=) p.(=)
./. - c.46-21A>G r.(=) p.(=)
./. - c.46-21A>G r.(=) p.(=)
./. - c.46-21A>G r.(=) p.(=)
./. - c.46-21A>G r.(=) p.(=)
./. - c.46-21A>G r.(=) p.(=)
./. - c.46-21A>G r.(=) p.(=)
./. - c.46-21A>G r.(=) p.(=)
./. - c.46-21A>G r.(=) p.(=)
./. - c.46-21A>G r.(=) p.(=)
./. - c.46-21A>G r.(=) p.(=)
./. - c.46-8T>A r.(=) p.(=)
./. - c.46-8T>A r.(=) p.(=)
./. - c.46-8T>A r.(=) p.(=)
./. - c.46-8T>A r.(=) p.(=)
./. - c.49A>G r.(?) p.(Ser17Gly)
./. - c.88C>T r.(?) p.(Arg30Trp)
./. - c.91C>A r.(?) p.(His31Asn)
./. - c.95C>T r.(?) p.(Ser32Phe)
./. - c.136C>T r.(?) p.(Leu46Phe)
./. - c.333G>C r.(?) p.(Gln111His)
./. - c.333G>C r.(?) p.(Gln111His)
./. - c.333G>C r.(?) p.(Gln111His)
./. - c.333G>C r.(?) p.(Gln111His)
./. - c.333G>C r.(?) p.(Gln111His)
./. - c.333G>C r.(?) p.(Gln111His)
./. - c.333G>C r.(?) p.(Gln111His)
./. - c.333G>C r.(?) p.(Gln111His)
./. - c.333G>C r.(?) p.(Gln111His)
./. - c.333G>C r.(?) p.(Gln111His)
./. - c.333G>C r.(?) p.(Gln111His)
./. - c.333G>C r.(?) p.(Gln111His)
./. - c.333G>C r.(?) p.(Gln111His)
./. - c.333G>C r.(?) p.(Gln111His)
./. - c.333G>C r.(?) p.(Gln111His)
./. - c.333G>C r.(?) p.(Gln111His)
./. - c.333G>C r.(?) p.(Gln111His)
./. - c.333G>C r.(?) p.(Gln111His)
./. - c.333G>C r.(?) p.(Gln111His)
./. - c.333G>C r.(?) p.(Gln111His)
./. - c.457A>G r.(?) p.(Met153Val)
./. - c.457A>G r.(?) p.(Met153Val)
./. - c.471C>A r.(=) p.(=)
./. - c.476T>G r.(?) p.(Met159Arg)
./. - c.504+39T>C r.(=) p.(=)
./. - c.504+39T>C r.(=) p.(=)
./. - c.504+39T>C r.(=) p.(=)
./. - c.510C>G r.(=) p.(=)
./. - c.510C>G r.(=) p.(=)
./. - c.621+43G>T r.(=) p.(=)
./. - c.621+43G>T r.(=) p.(=)
./. - c.621+43G>T r.(=) p.(=)
./. - c.621+43G>T r.(=) p.(=)
./. - c.621+43G>T r.(=) p.(=)
./. - c.621+43G>T r.(=) p.(=)
./. - c.655_657del r.(?) p.(Glu221del)
./. - c.699+44G>A r.(=) p.(=)
./. - c.699+44G>A r.(=) p.(=)
./. - c.699+44G>A r.(=) p.(=)
./. - c.700-50T>A r.(=) p.(=)
./. - c.700-19A>C r.(=) p.(=)
./. - c.701T>G r.(?) p.(Leu234Trp)
./. - c.751C>T r.(?) p.(Pro251Ser)
./. - c.751C>T r.(?) p.(Pro251Ser)
./. - c.807+3G>A r.spl? p.?
./. - c.807+16C>A r.(=) p.(=)
./. - c.807+16C>A r.(=) p.(=)
./. - c.807+476A>G r.(=) p.(=)
./. - c.807+649T>C r.(=) p.(=)
./. - c.808-51G>T r.(=) p.(=)
./. - c.808-50T>C r.(=) p.(=)
./. - c.808-49_808-48insT r.(=) p.(=)
./. - c.930A>G r.(=) p.(=)
./. - c.930A>G r.(=) p.(=)
./. - c.1002G>T r.(?) p.(Leu334Phe)
./. - c.1002G>T r.(?) p.(Leu334Phe)
./. - c.1050-40C>T r.(=) p.(=)
./. - c.1050-40C>T r.(=) p.(=)
./. - c.1050-40C>T r.(=) p.(=)
./. - c.1050-40C>T r.(=) p.(=)
./. - c.1050-40C>T r.(=) p.(=)
./. - c.1050-40C>T r.(=) p.(=)
./. - c.1050-40C>T r.(=) p.(=)
./. - c.1050-40C>T r.(=) p.(=)
./. - c.1050-40C>T r.(=) p.(=)
./. - c.1050-40C>T r.(=) p.(=)
./. - c.1050-40C>T r.(=) p.(=)
./. - c.1050-40C>T r.(=) p.(=)
./. - c.1050-40C>T r.(=) p.(=)
./. - c.1050-40C>T r.(=) p.(=)
./. - c.1050-40C>T r.(=) p.(=)
./. - c.1050-40C>T r.(=) p.(=)
./. - c.1050-40C>T r.(=) p.(=)
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