View transcript #00000787

Transcript name transcript variant X1
Gene name HADHA (hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit)
Chromosome 2
Transcript - NCBI ID XM_005264275.1
Transcript - Ensembl ID -
Protein - NCBI ID XP_005264332.1
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     
?/? - 9/20 c.707T>A p.(Val236Asp) - missense_variant - -
?/? - 9/20 c.733C>T p.(Arg245*) - stop_gained - -
?/? - 9/20 c.776T>A p.(Ile259Asn) - missense_variant - -
+/+ - 11/20 c.887T>C p.(Leu296Pro) - missense_variant - -
+/+ - 12/20 c.994C>T p.(Gln332*) - stop_gained - -
+/+ - 15/20 c.1390G>C p.(Glu464Gln) - missense_variant - -
+/+ - 16/20 c.1540C>T p.(Arg514*) - stop_gained - -
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