Transcript #00000041

Transcript name ATP-binding cassette, sub-family A (ABC1), member 8
Gene name ABCA8 (ATP-binding cassette, sub-family A (ABC1), member 8)
Chromosome 17
Transcript - NCBI ID NM_007168.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_009099.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.1A>T r.? p.?
?/? c.35C>G r.(?) p.(Thr12Ser)
?/? c.60T>C r.(=) p.(=)
?/? c.78G>A r.(?) p.(Met26Ile)
?/? c.96+17G>A r.(=) p.(=)
?/? c.97-24del r.(=) p.(=)
?/? c.97-11G>A r.(=) p.(=)
?/? c.104T>A r.(?) p.(Leu35Gln)
?/? c.122T>C r.(?) p.(Leu41Pro)
?/? c.196C>T r.(?) p.(Arg66Trp)
?/? c.254C>G r.(?) p.(Thr85Arg)
?/? c.258C>A r.(=) p.(=)
?/? c.302-32A>G r.(=) p.(=)
?/? c.324A>G r.(=) p.(=)
?/? c.333A>G r.(=) p.(=)
?/? c.383C>T r.(?) p.(Thr128Ile)
?/? c.402A>G r.(=) p.(=)
?/? c.438A>G r.(=) p.(=)
?/? c.448G>A r.(?) p.(Glu150Lys)
?/? c.466+10T>C r.(=) p.(=)
?/? c.466+31C>A r.(=) p.(=)
?/? c.467-26T>C r.(=) p.(=)
?/? c.482C>G r.(?) p.(Thr161Arg)
?/? c.497A>C r.(?) p.(Tyr166Ser)
?/? c.555T>C r.(=) p.(=)
?/? c.570+10A>C r.(=) p.(=)
?/? c.570+33T>C r.(=) p.(=)
?/? c.571-40C>T r.(=) p.(=)
?/? c.571-33G>A r.(=) p.(=)
?/? c.573_574insC r.(?) p.(Thr192Hisfs*32)
?/? c.620A>G r.(?) p.(Lys207Arg)
?/? c.663A>G r.(?) p.(Ile221Met)
?/? c.681T>C r.(=) p.(=)
?/? c.688A>G r.(?) p.(Ile230Val)
?/? c.748A>G r.(?) p.(Arg250Gly)
?/? c.753G>A r.(?) p.(Met251Ile)
?/? c.764T>C r.(?) p.(Met255Thr)
?/? c.766A>G r.(?) p.(Thr256Ala)
?/? c.778C>A r.(?) p.(Leu260Ile)
?/? c.788C>T r.(?) p.(Ser263Leu)
?/? c.792G>A r.(=) p.(=)
?/? c.797+1G>C r.spl? p.?
?/? c.797+25A>G r.(=) p.(=)
?/? c.797+30C>T r.(=) p.(=)
?/? c.798-50_798-45del r.(=) p.(=)
?/? c.801C>G r.(=) p.(=)
?/? c.818A>G r.(?) p.(Tyr273Cys)
?/? c.838A>G r.(?) p.(Met280Val)
?/? c.841del r.(?) p.(Ala281Profs*8)
?/? c.867A>T r.(?) p.(Arg289Ser)
?/? c.918T>C r.(=) p.(=)
?/? c.938T>C r.(?) p.(Leu313Ser)
?/? c.939+18A>G r.(=) p.(=)
?/? c.939+28A>G r.(=) p.(=)
?/? c.940-42T>C r.(=) p.(=)
?/? c.940-41G>A r.(=) p.(=)
?/? c.940-29T>G r.(=) p.(=)
?/? c.975G>T r.(?) p.(Lys325Asn)
?/? c.991G>A r.(?) p.(Gly331Ser)
?/? c.999C>T r.(=) p.(=)
?/? c.1000G>A r.(?) p.(Val334Met)
?/? c.1004T>C r.(?) p.(Phe335Ser)
?/? c.1026G>A r.(=) p.(=)
?/? c.1085G>C r.(?) p.(Ser362Thr)
?/? c.1092T>C r.(=) p.(=)
?/? c.1125+7T>C r.(=) p.(=)
?/? c.1125+9C>G r.(=) p.(=)
?/? c.1125+13C>T r.(=) p.(=)
?/? c.1126-45A>G r.(=) p.(=)
?/? c.1126-15C>A r.(=) p.(=)
?/? c.1175C>T r.(?) p.(Ser392Leu)
?/? c.1181del r.(?) p.(Gly394Alafs*6)
?/? c.1247C>T r.(?) p.(Ala416Val)
?/? c.1256T>C r.(?) p.(Phe419Ser)
?/? c.1273+14T>C r.(=) p.(=)
?/? c.1273+27A>G r.(=) p.(=)
?/? c.1273+46A>G r.(=) p.(=)
?/? c.1274-51C>T r.(=) p.(=)
?/? c.1274-49C>T r.(=) p.(=)
?/? c.1274-43C>T r.(=) p.(=)
?/? c.1274-42G>A r.(=) p.(=)
?/? c.1274-20A>G r.(=) p.(=)
?/? c.1288C>T r.(?) p.(Arg430*)
?/? c.1289G>A r.(?) p.(Arg430Gln)
?/? c.1291C>T r.(?) p.(Arg431Cys)
?/? c.1292G>A r.(?) p.(Arg431His)
?/? c.1307T>C r.(?) p.(Phe436Ser)
?/? c.1377C>T r.(=) p.(=)
?/? c.1378G>A r.(?) p.(Asp460Asn)
?/? c.1381C>T r.(?) p.(Pro461Ser)
?/? c.1391A>G r.(?) p.(His464Arg)
?/? c.1409C>T r.(?) p.(Ala470Val)
?/? c.1410G>A r.(=) p.(=)
?/? c.1427G>A r.(?) p.(Gly476Glu)
?/? c.1438A>T r.(?) p.(Ile480Phe)
?/? c.1442+27G>A r.(=) p.(=)
?/? c.1443-33T>G r.(=) p.(=)
?/? c.1488A>G r.(?) p.(Ile496Met)
?/? c.1495T>C r.(=) p.(=)
?/? c.1501+23_1501+24insCCTTG r.(=) p.(=)
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