Transcript #00000898

Transcript name methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
Gene name MMACHC (methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria)
Chromosome 1
Transcript - NCBI ID NM_015506.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_056321.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

2 entries on 1 page. Showing entries 1 - 2.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.*740T>C - - - - -
./. - - c.*1701T>A - - - - -
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