Transcript #00000060

Transcript name transcript variant 1
Gene name ABCC4 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)
Chromosome 13
Transcript - NCBI ID NM_005845.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_005836.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

282 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-49C>T r.(=) p.(=)
?/? c.10G>A r.(?) p.(Val4Met)
?/? c.52C>A r.(?) p.(Leu18Ile)
?/? c.74+10C>T r.(=) p.(=)
?/? c.74+45C>T r.(=) p.(=)
?/? c.74+46C>G r.(=) p.(=)
?/? c.105T>C r.(=) p.(=)
?/? c.109C>T r.(?) p.(Arg37Trp)
?/? c.120G>A r.(=) p.(=)
?/? c.155G>A r.(?) p.(Arg52His)
?/? c.185+5G>C r.spl? p.?
?/? c.185+7C>T r.(=) p.(=)
?/? c.185+37G>A r.(=) p.(=)
?/? c.186-49T>C r.(=) p.(=)
?/? c.186-22C>T r.(=) p.(=)
?/? c.186-5T>C r.spl? p.?
?/? c.233C>T r.(?) p.(Pro78Leu)
?/? c.246A>C r.(?) p.(Arg82Ser)
?/? c.296C>T r.(?) p.(Thr99Met)
?/? c.306+34A>C r.(=) p.(=)
?/? c.307-50del r.(=) p.(=)
?/? c.307-10C>T r.(=) p.(=)
?/? c.405C>T r.(=) p.(=)
?/? c.434C>T r.(?) p.(Thr145Met)
?/? c.450A>C r.(=) p.(=)
?/? c.526C>T r.(?) p.(Arg176Trp)
?/? c.531+10A>G r.(=) p.(=)
?/? c.531+25T>G r.(=) p.(=)
?/? c.532-24C>T r.(=) p.(=)
?/? c.532-17T>C r.(=) p.(=)
?/? c.551T>C r.(?) p.(Met184Thr)
?/? c.559G>T r.(?) p.(Gly187Trp)
?/? c.621+5G>A r.spl? p.?
?/? c.621+26T>C r.(=) p.(=)
?/? c.621+30T>G r.(=) p.(=)
?/? c.621+50T>C r.(=) p.(=)
?/? c.622-36T>C r.(=) p.(=)
?/? c.622-16_622-13del r.(=) p.(=)
?/? c.629T>C r.(?) p.(Val210Ala)
?/? c.665C>T r.(?) p.(Ala222Val)
?/? c.669T>C r.(=) p.(=)
?/? c.679G>T r.(?) p.(Ala227Ser)
?/? c.680C>G r.(?) p.(Ala227Gly)
?/? c.684A>G r.(=) p.(=)
?/? c.706T>C r.(?) p.(Ser236Pro)
?/? c.708G>A r.(=) p.(=)
?/? c.785+32A>G r.(=) p.(=)
?/? c.786-36C>T r.(=) p.(=)
?/? c.786-35G>A r.(=) p.(=)
?/? c.786-26C>T r.(=) p.(=)
?/? c.786-18G>A r.(=) p.(=)
?/? c.867C>T r.(=) p.(=)
?/? c.890A>G r.(?) p.(Asn297Ser)
?/? c.896T>C r.(?) p.(Ile299Thr)
?/? c.911+35A>G r.(=) p.(=)
?/? c.912-23T>A r.(=) p.(=)
?/? c.912G>T r.(?) p.(Lys304Asn)
?/? c.951A>G r.(=) p.(=)
?/? c.968C>T r.(?) p.(Ser323Leu)
?/? c.969A>G r.(=) p.(=)
?/? c.994G>A r.(?) p.(Val332Met)
?/? c.1027G>A r.(?) p.(Gly343Ser)
?/? c.1035G>A r.(=) p.(=)
?/? c.1050C>T r.(=) p.(=)
?/? c.1051G>A r.(?) p.(Val351Met)
?/? c.1068G>A r.(=) p.(=)
?/? c.1141G>A r.(?) p.(Val381Ile)
?/? c.1161+8T>A r.(=) p.(=)
?/? c.1161+21_1161+22insT r.(=) p.(=)
?/? c.1161+25G>C r.(=) p.(=)
?/? c.1161+27T>C r.(=) p.(=)
?/? c.1162-3T>C r.spl? p.?
?/? c.1178A>G r.(?) p.(Asp393Gly)
?/? c.1198C>T r.(?) p.(Arg400Cys)
?/? c.1208C>T r.(?) p.(Pro403Leu)
?/? c.1263+20A>G r.(=) p.(=)
?/? c.1264-53T>C r.(=) p.(=)
?/? c.1264-41C>T r.(=) p.(=)
?/? c.1280C>T r.(?) p.(Thr427Ile)
?/? c.1289G>A r.(?) p.(Gly430Asp)
?/? c.1296C>A r.(=) p.(=)
?/? c.1314C>T r.(=) p.(=)
?/? c.1332C>T r.(=) p.(=)
?/? c.1333G>A r.(?) p.(Gly445Ser)
?/? c.1353+21G>A r.(=) p.(=)
?/? c.1353+33A>T r.(=) p.(=)
?/? c.1353+37C>T r.(=) p.(=)
?/? c.1353+44T>G r.(=) p.(=)
?/? c.1353+47T>C r.(=) p.(=)
?/? c.1354-25T>C r.(=) p.(=)
?/? c.1354-19T>A r.(=) p.(=)
?/? c.1371C>T r.(=) p.(=)
?/? c.1377C>T r.(=) p.(=)
?/? c.1389C>T r.(=) p.(=)
?/? c.1411G>A r.(?) p.(Val471Met)
?/? c.1458G>A r.(=) p.(=)
?/? c.1492A>G r.(?) p.(Lys498Glu)
?/? c.1497C>T r.(=) p.(=)
?/? c.1498G>A r.(?) p.(Glu500Lys)
?/? c.1545G>A r.(=) p.(=)
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