Transcript #00009186 (NM_001122608.2, HCCS gene)

Transcript name transcript variant 2
Gene name HCCS (holocytochrome c synthase)
Chromosome X
Transcript - NCBI ID NM_001122608.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001116080.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

27 entries on 1 page. Showing entries 1 - 27.
Legend   How to query  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-42-3C>A r.spl? p.?
-/. - c.5G>A r.(?) p.(Gly2Asp)
-?/. - c.5G>A r.(?) p.(Gly2Asp)
-/. - c.5G>A r.(?) p.(Gly2Asp)
-?/. - c.69A>C r.(?) p.(Ser23=)
?/. - c.83A>G r.(?) p.(His28Arg)
-?/. - c.134C>T r.(?) p.(Thr45Ile)
?/. - c.157G>T r.(?) p.(Val53Leu)
+?/. - c.175C>T r.(?) p.(Arg59Cys)
-?/. - c.177C>T r.(?) p.(Arg59=)
-?/. - c.189C>T r.(?) p.(Tyr63=)
-/. - c.215C>T r.(?) p.(Ala72Val)
?/. 3 c.215C>T r.(?) p.(Ala72Val)
-/. - c.215C>T r.(?) p.(Ala72Val)
-/. - c.216G>C r.(?) p.(Ala72=)
-/. - c.216G>C r.(?) p.(Ala72=)
-?/. - c.252+5T>G r.spl? p.?
?/. - c.422A>G r.(?) p.(Asp141Gly)
-?/. - c.474C>T r.(?) p.(Asn158=)
?/. - c.518C>T r.(?) p.(Ala173Val)
-?/. - c.518C>T r.(?) p.(Ala173Val)
-?/. - c.549C>A r.(?) p.(Ile183=)
?/. - c.550C>T r.(?) p.(Arg184Trp)
+?/. - c.572A>T r.(?) p.(Glu191Val)
+/. - c.612T>G r.(?) p.(Tyr204Ter)
-?/. - c.697G>A r.(?) p.(Glu233Lys)
?/. - c.784G>A r.(?) p.(Ala262Thr)
Legend   How to query