Transcript #00000078 (NM_000288.3, PEX7 gene)

Transcript name peroxisomal biogenesis factor 7
Gene name PEX7 (peroxisomal biogenesis factor 7)
Chromosome 6
Transcript - NCBI ID NM_000288.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000279.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

3 entries on 1 page. Showing entries 1 - 3.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
./. 1 c.40A>C r.(?) p.(Thr14Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
./. 1 c.120C>A r.(?) p.(Tyr40*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation
./. 4 c.345T>A r.(?) p.(Tyr115*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation
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