Transcript #00000099 (NM_000157.3, GBA gene)

Transcript name transcript variant 1
Gene name GBA (glucosidase, beta, acid)
Chromosome 1
Transcript - NCBI ID NM_000157.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000148.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

5 entries on 1 page. Showing entries 1 - 5.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
./. 2i c.115+1G>A r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition -
./. 7 c.882T>A r.(?) p.(His294Gln) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
./. 9 c.1226A>G r.(?) p.(Asn409Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
./. 9 c.1263_1317del55 r.(?) p.(Leu422Profs*4) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel
./. 10 c.1448T>C r.(?) p.(Leu483Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
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