Transcript #00012089

Transcript name glucosidase, alpha; acid, transcript variant 1
Gene name GAA (glucosidase alpha, acid)
Chromosome 17
Transcript - NCBI ID NM_000152.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000143.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

8 entries on 1 page. Showing entries 1 - 8.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     
./. - c.-33+903A>C - r.(=) p.(=)
./. - c.-33+1309A>G - - -
./. - c.-32-640C>T - r.(=) p.(=)
./. - c.547-4C>G - r.spl? p.?
./. - c.692+751C>T - - -
./. - c.2190-686A>G - - -
./. - c.2190-444C>T - - -
./. - c.2780C>T - r.(?) p.(Thr927Ile)
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