Transcript #00009595 (NM_002150.2, HPD gene)

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

14 entries on 1 page. Showing entries 1 - 14.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - c.43C>T r.(?) p.(Arg15Ter)
-/. - c.97= r.(=) p.(Ala33=)
?/. - c.157G>A r.(?) p.(Gly53Ser)
?/. 7 c.398T>C r.(?) p.(Phe133Ser)
-?/. - c.415-4G>A r.spl? p.?
+?/. - c.505dup r.(?) p.(Leu169ProfsTer4)
-?/. - c.845G>A r.(?) p.(Arg282Lys)
?/. - c.881C>T r.(?) p.(Thr294Met)
-?/. - c.955-4C>T r.spl? p.?
+?/. 13 c.1005C>G r.(?) p.(Ile335Met)
-?/. - c.1005C>G r.(?) p.(Ile335Met)
?/. - c.1005C>G r.(?) p.(Ile335Met)
-?/. - c.1018G>T r.(?) p.(Val340Leu)
-?/. - c.1018G>T r.(?) p.(Val340Leu)
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