Transcript #00009595

Transcript name transcript variant 1
Gene name HPD (4-hydroxyphenylpyruvate dioxygenase)
Chromosome 12
Transcript - NCBI ID NM_002150.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_002141.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

10 entries on 1 page. Showing entries 1 - 10.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.97= r.(=) p.(Ala33=)
?/. - c.157G>A r.(?) p.(Gly53Ser)
+?/. - c.505dup r.(?) p.(Leu169ProfsTer4)
-?/. - c.845G>A r.(?) p.(Arg282Lys)
?/. - c.881C>T r.(?) p.(Thr294Met)
-?/. - c.955-4C>T r.spl? p.?
-?/. - c.1005C>G r.(?) p.(Ile335Met)
?/. - c.1005C>G r.(?) p.(Ile335Met)
-?/. - c.1018G>T r.(?) p.(Val340Leu)
-?/. - c.1018G>T r.(?) p.(Val340Leu)
Legend