Transcript #00024311 (NM_001173466.1, AAAS gene)

Transcript name achalasia, adrenocortical insufficiency, alacrimia, transcript variant 2
Gene name AAAS (achalasia, adrenocortical insufficiency, alacrimia)
Chromosome 12
Transcript - NCBI ID NM_001173466.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001166937.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

17 entries on 1 page. Showing entries 1 - 17.
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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.580T>C r.(?) p.(Leu194=)
+?/. - c.688T>C r.(?) p.(Ser230Pro)
-/. - c.756C>T r.(?) p.(Phe252=)
+?/. - c.925C>T r.(?) p.(Arg309Ter)
?/. - c.925C>T r.(?) p.(Arg309Ter)
-?/. - c.1135G>A r.(?) p.(Ala379Thr)
-?/. - c.1150+8G>A r.(=) p.(=)
-?/. - c.1202G>A r.(?) p.(Arg401Gln)
+/. - c.1232+1G>A r.spl? p.?
+/. - c.1232+1G>A r.spl? p.?
+/. - c.1232+1G>A r.spl? p.?
-?/. - c.1318-3C>T r.spl? p.?
-?/. - c.1344C>T r.(?) p.(His448=)
?/. - c.*407C>T r.(=) p.(=)
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