Transcript #00000019

Transcript name transcript variant X2
Gene name ACO2 (aconitase 2, mitochondrial)
Chromosome 22
Transcript - NCBI ID XM_005261622.1
Transcript - Ensembl ID -
Protein - NCBI ID XP_005261679.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

15 entries on 1 page. Showing entries 1 - 15.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.128+8020C>G p.(=) - - - -
./. - - c.128+8136C>G p.(=) - - - -
./. - - c.129-2735G>C p.(=) - - - -
./. - - c.129-2678G>A p.(=) - - - -
./. - - c.418C>T p.(Arg140Trp) - - - -
./. - - c.683C>T p.(Thr228Met) - - - -
./. - - c.952C>T p.(Arg318Cys) - - - -
./. - - c.1159C>G p.(Leu387Val) - - - -
./. - - c.1183C>T p.(Arg395Trp) - - - -
./. - - c.1184G>A p.(Arg395Gln) - - - -
./. - - c.1268C>T p.(Pro423Leu) - - - -
./. - - c.1286T>C p.(Ile429Thr) - - - -
./. - - c.1341G>C p.(Lys447Asn) - - - -
./. - - c.1458_1461del p.(Lys487Asnfs*49) - - - -
./. - - c.1470_1471del p.(Gln491Valfs*63) - - - -
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