Transcript #00000033

Transcript name centrosomal protein 57kDa, transcript variant 2
Gene name CEP57 (centrosomal protein 57)
Chromosome 11
Transcript - NCBI ID NM_001243776.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001230705.1
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.-104C>A r.(=) p.(=)
./. - c.-28C>T r.(=) p.(=)
./. - c.19-43T>C r.(=) p.(=)
./. - c.19-21A>G r.(=) p.(=)
./. - c.19-21A>G r.(=) p.(=)
./. - c.19-21A>G r.(=) p.(=)
./. - c.19-21A>G r.(=) p.(=)
./. - c.19-21A>G r.(=) p.(=)
./. - c.19-21A>G r.(=) p.(=)
./. - c.19-21A>G r.(=) p.(=)
./. - c.19-21A>G r.(=) p.(=)
./. - c.19-21A>G r.(=) p.(=)
./. - c.19-21A>G r.(=) p.(=)
./. - c.19-21A>G r.(=) p.(=)
./. - c.19-21A>G r.(=) p.(=)
./. - c.19-21A>G r.(=) p.(=)
./. - c.19-21A>G r.(=) p.(=)
./. - c.19-21A>G r.(=) p.(=)
./. - c.19-8T>A r.(=) p.(=)
./. - c.19-8T>A r.(=) p.(=)
./. - c.19-8T>A r.(=) p.(=)
./. - c.19-8T>A r.(=) p.(=)
./. - c.22A>G r.(?) p.(Ser8Gly)
./. - c.61C>T r.(?) p.(Arg21Trp)
./. - c.64C>A r.(?) p.(His22Asn)
./. - c.68C>T r.(?) p.(Ser23Phe)
./. - c.109C>T r.(?) p.(Leu37Phe)
./. - c.306G>C r.(?) p.(Gln102His)
./. - c.306G>C r.(?) p.(Gln102His)
./. - c.306G>C r.(?) p.(Gln102His)
./. - c.306G>C r.(?) p.(Gln102His)
./. - c.306G>C r.(?) p.(Gln102His)
./. - c.306G>C r.(?) p.(Gln102His)
./. - c.306G>C r.(?) p.(Gln102His)
./. - c.306G>C r.(?) p.(Gln102His)
./. - c.306G>C r.(?) p.(Gln102His)
./. - c.306G>C r.(?) p.(Gln102His)
./. - c.306G>C r.(?) p.(Gln102His)
./. - c.306G>C r.(?) p.(Gln102His)
./. - c.306G>C r.(?) p.(Gln102His)
./. - c.306G>C r.(?) p.(Gln102His)
./. - c.306G>C r.(?) p.(Gln102His)
./. - c.306G>C r.(?) p.(Gln102His)
./. - c.306G>C r.(?) p.(Gln102His)
./. - c.306G>C r.(?) p.(Gln102His)
./. - c.306G>C r.(?) p.(Gln102His)
./. - c.306G>C r.(?) p.(Gln102His)
./. - c.430A>G r.(?) p.(Met144Val)
./. - c.430A>G r.(?) p.(Met144Val)
./. - c.444C>A r.(=) p.(=)
./. - c.449T>G r.(?) p.(Met150Arg)
./. - c.477+39T>C r.(=) p.(=)
./. - c.477+39T>C r.(=) p.(=)
./. - c.477+39T>C r.(=) p.(=)
./. - c.483C>G r.(=) p.(=)
./. - c.483C>G r.(=) p.(=)
./. - c.594+43G>T r.(=) p.(=)
./. - c.594+43G>T r.(=) p.(=)
./. - c.594+43G>T r.(=) p.(=)
./. - c.594+43G>T r.(=) p.(=)
./. - c.594+43G>T r.(=) p.(=)
./. - c.594+43G>T r.(=) p.(=)
./. - c.628_630del r.(?) p.(Glu212del)
./. - c.672+44G>A r.(=) p.(=)
./. - c.672+44G>A r.(=) p.(=)
./. - c.672+44G>A r.(=) p.(=)
./. - c.673-50T>A r.(=) p.(=)
./. - c.673-19A>C r.(=) p.(=)
./. - c.674T>G r.(?) p.(Leu225Trp)
./. - c.724C>T r.(?) p.(Pro242Ser)
./. - c.724C>T r.(?) p.(Pro242Ser)
./. - c.780+3G>A r.spl? p.?
./. - c.780+16C>A r.(=) p.(=)
./. - c.780+16C>A r.(=) p.(=)
./. - c.781-45A>G r.(=) p.(=)
./. - c.858+51T>C r.(=) p.(=)
./. - c.859-51G>T r.(=) p.(=)
./. - c.859-50T>C r.(=) p.(=)
./. - c.859-49_859-48insT r.(=) p.(=)
./. - c.981A>G r.(=) p.(=)
./. - c.981A>G r.(=) p.(=)
./. - c.1053G>T r.(?) p.(Leu351Phe)
./. - c.1053G>T r.(?) p.(Leu351Phe)
./. - c.1101-40C>T r.(=) p.(=)
./. - c.1101-40C>T r.(=) p.(=)
./. - c.1101-40C>T r.(=) p.(=)
./. - c.1101-40C>T r.(=) p.(=)
./. - c.1101-40C>T r.(=) p.(=)
./. - c.1101-40C>T r.(=) p.(=)
./. - c.1101-40C>T r.(=) p.(=)
./. - c.1101-40C>T r.(=) p.(=)
./. - c.1101-40C>T r.(=) p.(=)
./. - c.1101-40C>T r.(=) p.(=)
./. - c.1101-40C>T r.(=) p.(=)
./. - c.1101-40C>T r.(=) p.(=)
./. - c.1101-40C>T r.(=) p.(=)
./. - c.1101-40C>T r.(=) p.(=)
./. - c.1101-40C>T r.(=) p.(=)
./. - c.1101-40C>T r.(=) p.(=)
./. - c.1101-40C>T r.(=) p.(=)
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