Transcript #00007435 (NM_203408.3, FAM47A gene)

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

45 entries on 1 page. Showing entries 1 - 45.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.137A>C r.(?) p.(Gln46Pro)
-?/. - c.196G>A r.(?) p.(Glu66Lys)
-?/. - c.632T>C r.(?) p.(Leu211Pro)
?/. 1 c.632T>C r.(?) p.(Leu211Pro)
-?/. - c.703_738del r.(?) p.(Leu235_His246del)
-?/. - c.742C>T r.(?) p.(Arg248Cys)
-?/. - c.749G>T r.(?) p.(Gly250Val)
?/. - c.773C>T r.(?) p.(Ser258Phe)
-?/. - c.980C>G r.(?) p.(Pro327Arg)
-?/. - c.989C>T r.(?) p.(Pro330Leu)
?/. - c.997G>A r.(?) p.(Gly333Arg)
-?/. - c.1013G>C r.(?) p.(Arg338Pro)
?/. - c.1013G>C r.(?) p.(Arg338Pro)
?/. - c.1055C>T r.(?) p.(Ser352Leu)
-?/. - c.1055C>T r.(?) p.(Ser352Leu)
?/. 1 c.1129G>T r.(?) p.(Ala377Ser)
-?/. - c.1220G>C r.(?) p.(Gly407Ala)
?/. - c.1343G>A r.(?) p.(Arg448Gln)
?/. - c.1438C>A r.(?) p.(Pro480Thr)
?/. - c.1453A>C r.(?) p.(Thr485Pro)
?/. - c.1475A>G r.(?) p.(His492Arg)
-?/. - c.1502C>G r.(?) p.(Thr501Arg)
?/. - c.1513C>G r.(?) p.(Arg505Gly)
?/. - c.1516T>C r.(?) p.(Ser506Pro)
?/. - c.1541C>G r.(?) p.(Thr514Arg)
?/. - c.1552C>G r.(?) p.(Arg518Gly)
-?/. - c.1552_1590del r.(?) p.(Arg518_Leu530del)
?/. - c.1553G>A r.(?) p.(Arg518His)
?/. - c.1554_1592del r.(?) p.(Ser519_Gly531del)
?/. - c.1555T>C r.(?) p.(Ser519Pro)
?/. - c.1558G>C r.(?) p.(Glu520Gln)
-?/. - c.1707C>A r.(?) p.(Phe569Leu)
?/. - c.1726C>G r.(?) p.(Arg576Gly)
?/. - c.1729G>A r.(?) p.(Ala577Thr)
-?/. - c.1830A>T r.(?) p.(Glu610Asp)
?/. - c.1853T>A r.(?) p.(Leu618Gln)
-?/. - c.1918G>A r.(?) p.(Glu640Lys)
-?/. - c.1918G>C r.(?) p.(Glu640Gln)
-?/. - c.1955C>T r.(?) p.(Ser652Leu)
?/. - c.1979T>G r.(?) p.(Leu660Arg)
-?/. - c.2065C>G r.(?) p.(Gln689Glu)
-?/. - c.2257A>G r.(?) p.(Ile753Val)
-?/. - c.2353G>A r.(?) p.(Val785Ile)
?/. - c.2353G>A r.(?) p.(Val785Ile)
-?/. - c.2353G>A r.(?) p.(Val785Ile)
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