Transcript #00000070

Transcript name ATP-binding cassette, sub-family C (CFTR/MRP), member 12
Gene name ABCC12 (ATP-binding cassette, sub-family C (CFTR/MRP), member 12)
Chromosome 16
Transcript - NCBI ID NM_033226.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_150229.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.8G>A r.(?) p.(Gly3Asp)
?/? c.12A>G r.(=) p.(=)
?/? c.25A>C r.(?) p.(Ile9Leu)
?/? c.49C>T r.(?) p.(Arg17Trp)
?/? c.50G>A r.(?) p.(Arg17Gln)
?/? c.52C>T r.(?) p.(Arg18Trp)
?/? c.69A>G r.(=) p.(=)
?/? c.76G>A r.(?) p.(Asp26Asn)
?/? c.100C>A r.(?) p.(Pro34Thr)
?/? c.106C>T r.(?) p.(Arg36*)
?/? c.119+11A>C r.(=) p.(=)
?/? c.119+18C>T r.(=) p.(=)
?/? c.119+19A>G r.(=) p.(=)
?/? c.119+41C>T r.(=) p.(=)
?/? c.120-49G>A r.(=) p.(=)
?/? c.120-25C>T r.(=) p.(=)
?/? c.120-24G>A r.(=) p.(=)
?/? c.134C>T r.(?) p.(Pro45Leu)
?/? c.142_143insCATC r.(?) p.(Asp48Alafs*38)
?/? c.156C>A r.(=) p.(=)
?/? c.162C>T r.(=) p.(=)
?/? c.164C>T r.(?) p.(Ala55Val)
?/? c.182C>T r.(?) p.(Thr61Met)
?/? c.185C>T r.(?) p.(Pro62Leu)
?/? c.197_198del r.(?) p.(Lys66Argfs*18)
?/? c.205C>T r.(?) p.(Arg69Trp)
?/? c.206G>A r.(?) p.(Arg69Gln)
?/? c.218C>T r.(?) p.(Thr73Ile)
?/? c.219C>T r.(=) p.(=)
?/? c.220G>A r.(?) p.(Val74Ile)
?/? c.275+14C>T r.(=) p.(=)
?/? c.276-32A>G r.(=) p.(=)
?/? c.276-17_276-16del r.(=) p.(=)
?/? c.280C>T r.(?) p.(Arg94*)
?/? c.281G>A r.(?) p.(Arg94Gln)
?/? c.290G>A r.(?) p.(Trp97*)
?/? c.299del r.(?) p.(Glu100Glyfs*2)
?/? c.305C>A r.(?) p.(Ala102Glu)
?/? c.340G>A r.(?) p.(Val114Met)
?/? c.345G>A r.(=) p.(=)
?/? c.364C>T r.(?) p.(Arg122Cys)
?/? c.367G>C r.(?) p.(Val123Leu)
?/? c.378C>T r.(=) p.(=)
?/? c.393C>T r.(=) p.(=)
?/? c.423G>A r.(=) p.(=)
?/? c.427+4C>T r.spl? p.?
?/? c.428-40G>A r.(=) p.(=)
?/? c.428-22C>G r.(=) p.(=)
?/? c.428-1G>C r.spl? p.?
?/? c.442del r.(?) p.(Ile148Serfs*20)
?/? c.444C>A r.(=) p.(=)
?/? c.475G>A r.(?) p.(Val159Ile)
?/? c.489T>C r.(=) p.(=)
?/? c.490G>T r.(?) p.(Gly164*)
?/? c.516C>A r.(=) p.(=)
?/? c.556A>G r.(?) p.(Ile186Val)
?/? c.562T>C r.(?) p.(Tyr188His)
?/? c.577C>T r.(?) p.(Arg193Trp)
?/? c.590C>T r.(?) p.(Ala197Val)
?/? c.591G>A r.(=) p.(=)
?/? c.638C>T r.(?) p.(Thr213Ile)
?/? c.654C>T r.(=) p.(=)
?/? c.657+39C>T r.(=) p.(=)
?/? c.658-8C>T r.(=) p.(=)
?/? c.671T>C r.(?) p.(Leu224Pro)
?/? c.718T>C r.(=) p.(=)
?/? c.731T>A r.(?) p.(Ile244Asn)
?/? c.735G>T r.(=) p.(=)
?/? c.736A>G r.(?) p.(Ile246Val)
?/? c.739C>T r.(=) p.(=)
?/? c.758C>T r.(?) p.(Ala253Val)
?/? c.779G>T r.(?) p.(Gly260Val)
?/? c.783C>G r.(=) p.(=)
?/? c.787G>T r.(?) p.(Ala263Ser)
?/? c.788C>G r.(?) p.(Ala263Gly)
?/? c.831+51A>G r.(=) p.(=)
?/? c.832-39C>G r.(=) p.(=)
?/? c.832-32C>G r.(=) p.(=)
?/? c.846G>A r.(=) p.(=)
?/? c.892C>T r.(?) p.(Arg298*)
?/? c.904A>G r.(?) p.(Met302Val)
?/? c.911_914del r.(?) p.(Glu304Valfs*2)
?/? c.921C>T r.(=) p.(=)
?/? c.923G>A r.(?) p.(Cys308Tyr)
?/? c.929G>C r.(?) p.(Arg310Thr)
?/? c.933G>T r.(=) p.(=)
?/? c.969C>T r.(=) p.(=)
?/? c.979+29C>A r.(=) p.(=)
?/? c.979+47T>A r.(=) p.(=)
?/? c.980-42C>T r.(=) p.(=)
?/? c.980-2A>C r.spl? p.?
?/? c.980-1G>A r.spl? p.?
?/? c.1026C>T r.(=) p.(=)
?/? c.1051C>G r.(?) p.(Pro351Ala)
?/? c.1054A>G r.(?) p.(Ile352Val)
?/? c.1069G>A r.(?) p.(Ala357Thr)
?/? c.1075G>A r.(?) p.(Val359Met)
?/? c.1096A>G r.(?) p.(Ile366Val)
?/? c.1108C>T r.(?) p.(Arg370Cys)
?/? c.1126G>A r.(?) p.(Val376Met)
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