Transcript #00024156 (NM_015665.5, AAAS gene)

Transcript name transcript variant 1
Gene name AAAS (achalasia, adrenocortical insufficiency, alacrimia)
Chromosome 12
Transcript - NCBI ID NM_015665.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_056480.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

18 entries on 1 page. Showing entries 1 - 18.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - c.43C>A r.(?) p.(Gln15Lys)
-/. - c.124-20T>C r.(=) p.(=)
-?/. - c.356G>A r.(?) p.(Arg119Gln)
+/. - c.464G>A r.(?) p.(Arg155His)
-/. - c.679T>C r.(?) p.(Leu227=)
+?/. - c.787T>C r.(?) p.(Ser263Pro)
-/. - c.855C>T r.(?) p.(Phe285=)
+?/. - c.1024C>T r.(?) p.(Arg342Ter)
?/. - c.1024C>T r.(?) p.(Arg342Ter)
-?/. - c.1234G>A r.(?) p.(Ala412Thr)
-?/. - c.1249+8G>A r.(=) p.(=)
-?/. - c.1301G>A r.(?) p.(Arg434Gln)
+/. - c.1331+1G>A r.spl? p.?
+/. - c.1331+1G>A r.spl? p.?
+/. - c.1331+1G>A r.spl? p.?
-?/. - c.1417-3C>T r.spl? p.?
-?/. - c.1443C>T r.(?) p.(His481=)
?/. - c.*407C>T r.(=) p.(=)
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