Transcript #00000788

Transcript name transcript variant X2
Gene name HADHA (hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit)
Chromosome 2
Transcript - NCBI ID XM_005264276.1
Transcript - Ensembl ID -
Protein - NCBI ID XP_005264333.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

7 entries on 1 page. Showing entries 1 - 7.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
?/? - 8/19 c.584T>A p.(Val195Asp) - missense_variant - -
?/? - 8/19 c.610C>T p.(Arg204*) - stop_gained - -
?/? - 8/19 c.653T>A p.(Ile218Asn) - missense_variant - -
+/+ - 10/19 c.764T>C p.(Leu255Pro) - missense_variant - -
+/+ - 11/19 c.871C>T p.(Gln291*) - stop_gained - -
+/+ - 14/19 c.1267G>C p.(Glu423Gln) - missense_variant - -
+/+ - 15/19 c.1417C>T p.(Arg473*) - stop_gained - -
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