Transcript #00016559

Transcript name SAC3 domain containing 1
Gene name SAC3D1 (SAC3 domain containing 1)
Chromosome 11
Transcript - NCBI ID NM_013299.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_037431.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

39 entries on 1 page. Showing entries 1 - 39.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.88C>T r.(?) p.(His30Tyr)
?/? c.280C>T r.(?) p.(Arg94Cys)
?/? c.297C>T r.(=) p.(=)
?/? c.326T>G r.(?) p.(Leu109Arg)
?/? c.369T>G r.(=) p.(=)
?/? c.575-3_575-2insA r.spl? p.?
?/? c.578C>G r.(?) p.(Ser193Trp)
?/? c.579G>A r.(=) p.(=)
?/? c.586G>T r.(?) p.(Ala196Ser)
?/? c.624C>T r.(=) p.(=)
?/? c.632C>T r.(?) p.(Pro211Leu)
?/? c.633G>A r.(=) p.(=)
?/? c.680A>G r.(?) p.(Asn227Ser)
?/? c.691C>T r.(=) p.(=)
?/? c.708G>A r.(=) p.(=)
?/? c.723G>A r.(=) p.(=)
?/? c.732C>T r.(=) p.(=)
?/? c.741_742del r.(?) p.(Cys248Profs*18)
?/? c.758C>T r.(?) p.(Ala253Val)
?/? c.763C>T r.(?) p.(Arg255Trp)
?/? c.764G>A r.(?) p.(Arg255Gln)
?/? c.778C>T r.(?) p.(Arg260Cys)
?/? c.783C>T r.(=) p.(=)
?/? c.787C>T r.(?) p.(Arg263Cys)
?/? c.788G>A r.(?) p.(Arg263His)
?/? c.829T>A r.(?) p.(Phe277Ile)
?/? c.871C>T r.(?) p.(Arg291Trp)
?/? c.872G>A r.(?) p.(Arg291Gln)
?/? c.873G>A r.(=) p.(=)
?/? c.906C>T r.(=) p.(=)
?/? c.942C>G r.(?) p.(Tyr314*)
?/? c.943G>A r.(?) p.(Val315Met)
?/? c.971C>T r.(?) p.(Thr324Met)
?/? c.978G>A r.(=) p.(=)
?/? c.1006C>T r.(?) p.(Arg336Cys)
?/? c.1033G>A r.(?) p.(Glu345Lys)
?/? c.1051A>G r.(?) p.(Thr351Ala)
?/? c.1068C>T r.(=) p.(=)
?/? c.*33C>A r.(=) p.(=)
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