Transcript #00003047 (NM_004044.6, ATIC gene)

Transcript name 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
Gene name ATIC (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase)
Chromosome 2
Transcript - NCBI ID NM_004044.6
Transcript - Ensembl ID -
Protein - NCBI ID NP_004035.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

12 entries on 1 page. Showing entries 1 - 12.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.53T>G r.(?) p.(Val18Gly)
-?/. - c.281A>G r.(?) p.(Asn94Ser)
-/. - c.380-19A>C r.(=) p.(=)
?/. - c.389C>T r.(?) p.(Thr130Ile)
-?/. - c.595A>G r.(?) p.(Lys199Glu)
-?/. - c.783C>T r.(?) p.(Ala261=)
-/. - c.955G>A r.(?) p.(Val319Ile)
-?/. - c.955G>A r.(?) p.(Val319Ile)
+/. - c.1099-1G>T r.spl? p.?
?/. - c.1246C>T r.(?) p.(Arg416Ter)
?/. - c.1367G>A r.(?) p.(Arg456His)
-?/. - c.1499G>A r.(?) p.(Gly500Asp)
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