Full data view for gene MPZ

Information The variants shown are described using the NM_000530.6 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Ethnic origin     

Remarks     

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Owner     
./. 5 c.637G>C r.(?) p.(Gly213Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.161275906C>G Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Seeman P.(2010) MPZ_000043 - ? ? HMSN Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Seeman P.(2010) - - 1 Y Yang
./. 5 c.637G>C r.(?) p.(Gly213Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.161275906C>G Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Seeman P.(2010) MPZ_000043 - ? ? HMSN Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Seeman P.(2010) - - 1 Y Yang
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