Transcript #00000201 (NM_015697.7, COQ2 gene)

Transcript name coenzyme Q2 homolog, prenyltransferase (yeast)
Gene name COQ2 (coenzyme Q2 homolog, prenyltransferase (yeast))
Chromosome 4
Transcript - NCBI ID NM_015697.7
Transcript - Ensembl ID -
Protein - NCBI ID NP_056512.5
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

71 entries on 1 page. Showing entries 1 - 71.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-90A>G r.(=) p.(=)
./. - c.64A>T r.(?) p.(Arg22*)
-?/. - c.64A>T r.(?) p.(Arg22Ter)
?/. - c.64A>T r.(?) p.(Arg22Ter)
-?/. - c.64A>T r.(?) p.(Arg22Ter)
-/. - c.64A>T r.(?) p.(Arg22Ter)
-?/. - c.64A>T r.(?) p.(Arg22Ter)
-/. - c.73T>G r.(?) p.(Leu25Val)
?/. - c.131del r.(?) p.(Arg44LeufsTer128)
?/. - c.131del r.(?) p.(Arg44LeufsTer128)
-?/. - c.173G>A r.(?) p.(Gly58Glu)
-/. - c.196G>T r.(?) p.(Val66Leu)
-/. - c.196G>T r.(?) p.(Val66Leu)
-/. - c.196G>T r.(?) p.(Val66Leu)
-/. - c.196G>T r.(?) p.(Val66Leu)
-?/. - c.286C>T r.(?) p.(Pro96Ser)
-/. - c.286C>T r.(?) p.(Pro96Ser)
-?/. - c.287C>T r.(?) p.(Pro96Leu)
-/. - c.287C>T r.(?) p.(Pro96Leu)
-?/. - c.288C>T r.(?) p.(Pro96=)
?/. - c.320G>C r.(?) p.(Ser107Thr)
?/. - c.320G>C r.(?) p.(Ser107Thr)
-?/. - c.320G>C r.(?) p.(Ser107Thr)
+?/. - c.338_341delinsG r.(?) p.(Val113_Val114delinsGly)
-?/. - c.339G>T r.(?) p.(Val113=)
-/. - c.344A>C r.(?) p.(Asp115Ala)
-/. - c.344A>C r.(?) p.(Asp115Ala)
?/. - c.374T>G r.(?) p.(Leu125Trp)
+/. - c.404-2A>G r.spl? p.?
?/. - c.409T>C r.(?) p.(Trp137Arg)
+/. 2 c.545T>G r.(?) p.(Met182Arg)
?/. - c.574A>G r.(?) p.(Thr192Ala)
-/. - c.574A>G r.(?) p.(Thr192Ala)
?/. - c.587A>G r.(?) p.(Asn196Ser)
-?/. - c.587A>G r.(?) p.(Asn196Ser)
-/. - c.587A>G r.(?) p.(Asn196Ser)
+?/. - c.590G>A r.(?) p.(Arg197His)
-?/. - c.600C>T r.(?) p.(Ala200=)
+/. - c.683A>G r.(?) p.(Asn228Ser)
+?/. - c.683A>G r.(?) p.(Asn228Ser)
+?/. - c.683A>G r.(?) p.(Asn228Ser)
+?/. - c.683A>G r.(?) p.(Asn228Ser)
-?/. - c.714C>T r.(?) p.(Ser238=)
+/. - c.735C>G r.(?) p.(Tyr245*)
?/. - c.737C>T r.(?) p.(Pro246Leu)
-?/. - c.739C>T r.(?) p.(Leu247=)
?/. - c.778+5G>A r.spl? p.?
-?/. - c.801G>A r.(?) p.(Ala267=)
?/. - c.883C>G r.(?) p.(Leu295Val)
-?/. - c.887T>C r.(?) p.(Ile296Thr)
+/. - c.890A>G r.(?) p.(Tyr297Cys)
-/. - c.894T>C r.(?) p.(Asp298=)
-/. - c.894T>C r.(?) p.(Asp298=)
-/. - c.894T>C r.(?) p.(Asp298=)
?/. - c.898A>G r.(?) p.(Ile300Val)
?/. - c.905C>G r.(?) p.(Ala302Gly)
-/. - c.913-86dup r.(=) p.(=)
-?/. - c.913-7A>G r.(=) p.(=)
-?/. - c.988A>C r.(?) p.(Ser330Arg)
-/. - c.990C>T r.(?) p.(Ser330=)
-/. - c.990C>T r.(?) p.(Ser330=)
-/. - c.990C>T r.(?) p.(Ser330=)
-/. - c.1101+153C>T r.(=) p.(=)
-/. - c.1107C>T r.(?) p.(Tyr369=)
-/. - c.1107C>T r.(?) p.(Tyr369=)
-/. - c.1107C>T r.(?) p.(Tyr369=)
+/. - c.1139G>A r.(?) p.(Trp380Ter)
-?/. - c.1178T>C r.(?) p.(Val393Ala)
+?/. 7 c.1184dup r.(?) p.(Leu395PhefsTer24)
?/. - c.1196_1197del r.(?) p.(Leu399Argfs*19)
?/. - c.1220_1222del r.(?) p.(Lys407del)
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