Transcript #00000021

Transcript name aconitase 2, mitochondrial
Gene name ACO2 (aconitase 2, mitochondrial)
Chromosome 22
Transcript - NCBI ID NM_001098.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001089.1
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.220C>G p.(Leu74Val) - - - -
./. - - c.336C>G p.(Ser112Arg) - - - -
./. - - c.719G>C p.(Gly240Ala) - - - -
./. - - c.776G>A p.(Gly259Asp) - - - -
./. - - c.1285C>T p.(Arg429Trp) - - - -
./. - - c.1550C>T p.(Thr517Met) - - - -
./. - - c.1819C>T p.(Arg607Cys) - - - -
./. - - c.2026C>G p.(Leu676Val) - - - -
./. - - c.2050C>T p.(Arg684Trp) - - - -
./. - - c.2051G>A p.(Arg684Gln) - - - -
./. - - c.2135C>T p.(Pro712Leu) - - - -
./. - - c.2153T>C p.(Ile718Thr) - - - -
./. - - c.2208G>C p.(Lys736Asn) - - - -
./. - - c.2325_2328del p.(Lys776Asnfs*49) - - - -
./. - - c.2337_2338del p.(Gln780Valfs*63) - - - -
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