Transcript #00003193

Transcript name centrosomal protein 250kDa
Gene name CEP250 (centrosomal protein 250kDa)
Chromosome 20
Transcript - NCBI ID NM_007186.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_009117.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

372 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-26C>T r.(=) p.(=)
?/? c.49C>A r.(?) p.(Gln17Lys)
?/? c.186+26G>C r.(=) p.(=)
?/? c.187-36G>T r.(=) p.(=)
?/? c.199C>T r.(?) p.(Arg67*)
?/? c.209G>T r.(?) p.(Cys70Phe)
?/? c.227G>A r.(?) p.(Arg76Gln)
?/? c.243+47T>C r.(=) p.(=)
?/? c.244-32A>G r.(=) p.(=)
?/? c.244-23A>T r.(=) p.(=)
?/? c.244-11G>C r.(=) p.(=)
?/? c.244-6G>A r.(=) p.(=)
?/? c.247C>T r.(?) p.(Pro83Ser)
?/? c.277G>A r.(?) p.(Glu93Lys)
?/? c.305G>A r.(?) p.(Arg102Gln)
?/? c.306A>G r.(=) p.(=)
?/? c.326+34T>A r.(=) p.(=)
?/? c.327-39C>T r.(=) p.(=)
?/? c.327-33T>C r.(=) p.(=)
?/? c.327-28C>T r.(=) p.(=)
?/? c.327-4G>A r.spl? p.?
?/? c.353C>T r.(?) p.(Thr118Ile)
?/? c.357G>A r.(=) p.(=)
?/? c.366G>A r.(=) p.(=)
?/? c.384C>T r.(=) p.(=)
?/? c.445C>T r.(?) p.(Arg149Trp)
?/? c.461G>A r.(?) p.(Arg154Lys)
?/? c.482T>C r.(?) p.(Met161Thr)
?/? c.492+11C>T r.(=) p.(=)
?/? c.493-52G>A r.(=) p.(=)
?/? c.493-37C>A r.(=) p.(=)
?/? c.493-1G>A r.spl? p.?
?/? c.526C>T r.(?) p.(Arg176Cys)
?/? c.553G>A r.(?) p.(Val185Met)
?/? c.566G>A r.(?) p.(Arg189His)
?/? c.634C>T r.(?) p.(Leu212Phe)
?/? c.665G>A r.(?) p.(Arg222His)
?/? c.679G>A r.(?) p.(Ala227Thr)
?/? c.756G>A r.(=) p.(=)
?/? c.851G>A r.(?) p.(Arg284Gln)
?/? c.851+6A>G r.(=) p.(=)
?/? c.851+8G>A r.(=) p.(=)
?/? c.851+16G>A r.(=) p.(=)
?/? c.851+22G>A r.(=) p.(=)
?/? c.852-28G>A r.(=) p.(=)
?/? c.852-21G>A r.(=) p.(=)
?/? c.859G>A r.(?) p.(Glu287Lys)
?/? c.902A>G r.(?) p.(Asp301Gly)
?/? c.913A>G r.(?) p.(Met305Val)
?/? c.921G>T r.(?) p.(Lys307Asn)
?/? c.936A>G r.(=) p.(=)
?/? c.948+34C>T r.(=) p.(=)
?/? c.949-21_949-17del r.(=) p.(=)
?/? c.949-19_949-18del r.(=) p.(=)
?/? c.982G>A r.(?) p.(Ala328Thr)
?/? c.1001C>T r.(?) p.(Ala334Val)
?/? c.1002G>A r.(=) p.(=)
?/? c.1005A>G r.(=) p.(=)
?/? c.1009G>C r.(?) p.(Glu337Gln)
?/? c.1050+19T>A r.(=) p.(=)
?/? c.1051G>A r.(?) p.(Val351Ile)
?/? c.1074T>C r.(=) p.(=)
?/? c.1114G>C r.(?) p.(Asp372His)
?/? c.1174C>T r.(?) p.(Arg392Cys)
?/? c.1175G>A r.(?) p.(Arg392His)
?/? c.1181T>C r.(?) p.(Val394Ala)
?/? c.1208A>G r.(?) p.(Gln403Arg)
?/? c.1209+25C>T r.(=) p.(=)
?/? c.1210-4A>G r.spl? p.?
?/? c.1213C>T r.(=) p.(=)
?/? c.1242G>C r.(?) p.(Glu414Asp)
?/? c.1301G>C r.(?) p.(Arg434Thr)
?/? c.1329G>A r.(=) p.(=)
?/? c.1330C>T r.(?) p.(Arg444Trp)
?/? c.1331G>A r.(?) p.(Arg444Gln)
?/? c.1361T>G r.(?) p.(Leu454Arg)
?/? c.1380T>C r.(=) p.(=)
?/? c.1388+43C>T r.(=) p.(=)
?/? c.1389-30C>A r.(=) p.(=)
?/? c.1389-29T>C r.(=) p.(=)
?/? c.1412C>G r.(?) p.(Ala471Gly)
?/? c.1462C>T r.(?) p.(Arg488Cys)
?/? c.1555C>T r.(?) p.(Arg519Trp)
?/? c.1571+25G>T r.(=) p.(=)
?/? c.1571+41T>C r.(=) p.(=)
?/? c.1572-46G>T r.(=) p.(=)
?/? c.1572-22A>C r.(=) p.(=)
?/? c.1585A>G r.(?) p.(Met529Val)
?/? c.1587G>A r.(?) p.(Met529Ile)
?/? c.1675C>A r.(?) p.(Leu559Met)
?/? c.1684G>A r.(?) p.(Glu562Lys)
?/? c.1707G>A r.(=) p.(=)
?/? c.1708C>T r.(=) p.(=)
?/? c.1716+3G>A r.spl? p.?
?/? c.1716+15C>T r.(=) p.(=)
?/? c.1717-48C>T r.(=) p.(=)
?/? c.1717-25_1717-24del r.(=) p.(=)
?/? c.1717G>A r.(?) p.(Ala573Thr)
?/? c.1734A>C r.(=) p.(=)
?/? c.1779T>A r.(?) p.(Asp593Glu)
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