Transcript #00005625

Transcript name family with sequence similarity 47, member A
Gene name FAM47A (family with sequence similarity 47, member A)
Chromosome X
Transcript - NCBI ID NM_203408.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_981953.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

83 entries on 1 page. Showing entries 1 - 83.
Legend  

Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-23G>A r.(=) p.(=)
?/? c.-11C>T r.(=) p.(=)
?/? c.2T>G r.? p.?
?/? c.76C>T r.(?) p.(Pro26Ser)
?/? c.195C>G r.(=) p.(=)
?/? c.217C>T r.(?) p.(Arg73Cys)
?/? c.222C>A r.(?) p.(Asp74Glu)
?/? c.246T>C r.(=) p.(=)
?/? c.291G>C r.(=) p.(=)
?/? c.297G>C r.(?) p.(Lys99Asn)
?/? c.331C>G r.(?) p.(Gln111Glu)
?/? c.368C>T r.(?) p.(Ala123Val)
?/? c.377T>C r.(?) p.(Met126Thr)
?/? c.378G>C r.(?) p.(Met126Ile)
?/? c.407A>G r.(?) p.(Asn136Ser)
?/? c.440T>C r.(?) p.(Leu147Pro)
?/? c.495T>C r.(=) p.(=)
?/? c.520G>C r.(?) p.(Glu174Gln)
?/? c.530C>T r.(?) p.(Thr177Ile)
?/? c.532G>A r.(?) p.(Glu178Lys)
?/? c.581C>T r.(?) p.(Thr194Ile)
?/? c.632T>C r.(?) p.(Leu211Pro)
?/? c.670C>T r.(?) p.(Arg224Cys)
?/? c.674C>A r.(?) p.(Pro225Gln)
?/? c.703C>A r.(?) p.(Leu235Ile)
?/? c.706C>T r.(?) p.(Arg236Cys)
?/? c.707G>A r.(?) p.(Arg236His)
?/? c.703_738del r.(?) p.(Leu235_His246del)
?/? c.748G>A r.(?) p.(Gly250Arg)
?/? c.749G>A r.(?) p.(Gly250Glu)
?/? c.841G>A r.(?) p.(Glu281Lys)
?/? c.858A>C r.(=) p.(=)
?/? c.864C>T r.(=) p.(=)
?/? c.921G>A r.(=) p.(=)
?/? c.953C>T r.(?) p.(Pro318Leu)
?/? c.958A>T r.(?) p.(Thr320Ser)
?/? c.976C>T r.(?) p.(Arg326Cys)
?/? c.980C>G r.(?) p.(Pro327Arg)
?/? c.995C>T r.(?) p.(Thr332Ile)
?/? c.1013G>C r.(?) p.(Arg338Pro)
?/? c.1036C>A r.(=) p.(=)
?/? c.1041G>A r.(=) p.(=)
?/? c.1055C>T r.(?) p.(Ser352Leu)
?/? c.1082G>A r.(?) p.(Arg361His)
?/? c.1112G>A r.(?) p.(Arg371Gln)
?/? c.1129G>T r.(?) p.(Ala377Ser)
?/? c.1130C>T r.(?) p.(Ala377Val)
?/? c.1166C>T r.(?) p.(Pro389Leu)
?/? c.1176C>A r.(=) p.(=)
?/? c.1213A>T r.(?) p.(Lys405*)
?/? c.1235G>A r.(?) p.(Arg412His)
?/? c.1248C>T r.(=) p.(=)
?/? c.1250A>T r.(?) p.(Asp417Val)
?/? c.1268A>G r.(?) p.(Asn423Ser)
?/? c.1310C>T r.(?) p.(Thr437Met)
?/? c.1311G>A r.(=) p.(=)
?/? c.1331G>A r.(?) p.(Arg444His)
?/? c.1419_1420insAGT r.(?) p.(Thr473_Gln474insSer)
?/? c.1475A>G r.(?) p.(His492Arg)
?/? c.1478C>T r.(?) p.(Ser493Leu)
?/? c.1499G>A r.(?) p.(Arg500Gln)
?/? c.1513C>T r.(?) p.(Arg505Cys)
?/? c.1537C>T r.(?) p.(Arg513Trp)
?/? c.1542G>A r.(=) p.(=)
?/? c.1596G>A r.(=) p.(=)
?/? c.1578_1616del r.(?) p.(Thr527_Arg539del)
?/? c.1634C>T r.(?) p.(Pro545Leu)
?/? c.1635G>A r.(=) p.(=)
?/? c.1674G>A r.(=) p.(=)
?/? c.1680T>C r.(=) p.(=)
?/? c.1726C>G r.(?) p.(Arg576Gly)
?/? c.1781G>A r.(?) p.(Cys594Tyr)
?/? c.1898C>T r.(?) p.(Pro633Leu)
?/? c.1991A>G r.(?) p.(Asp664Gly)
?/? c.2048C>T r.(?) p.(Ser683Leu)
?/? c.2050A>G r.(?) p.(Asn684Asp)
?/? c.2133_2135del r.(?) p.(Asp711del)
?/? c.2161C>G r.(?) p.(Leu721Val)
?/? c.2192A>G r.(?) p.(Asp731Gly)
?/? c.2193C>T r.(=) p.(=)
?/? c.2233A>T r.(?) p.(Ser745Cys)
?/? c.2370_2372del r.(?) p.(Glu790del)
?/? c.*24T>C r.(=) p.(=)
Legend