Transcript #00009318 (NM_014362.3, HIBCH gene)

Transcript name transcript variant 1
Gene name HIBCH (3-hydroxyisobutyryl-CoA hydrolase)
Chromosome 2
Transcript - NCBI ID NM_014362.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_055177.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
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.2T>C r.(?) p.(Met1?)
-?/. - c.10C>T r.(?) p.(Arg4Cys)
-?/. - c.79-7T>C r.(=) p.(=)
+/. - c.113T>G r.(?) p.(Val38Gly)
-/. - c.136A>G r.(?) p.(Thr46Ala)
?/. - c.410C>T r.(?) p.(Ala137Val)
+?/. - c.452C>T r.(?) p.(Ser151Leu)
-?/. - c.465A>G r.(?) p.(Gln155=)
+?/. - c.725_726del r.(?) p.(Ser242Cysfs*10)
+/. - c.750G>A r.(=) p.(=)
?/. - c.751T>C r.(?) p.(Ser251Pro)
+/. - c.853C>T r.(?) p.(Gln285Ter)
+?/. - c.913A>G r.(?) p.(Thr305Ala)
-?/. - c.*5127C>A r.(=) p.(=)
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