Full data view for gene ASPA

Information The variants shown are described using the NM_000049.2 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     

Panel size     

Owner     
./. 4 c.541C>A r.(?) p.(Pro181Thr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3392543C>A Sistermans EA1, de Coo RF, van Beerendonk HM, Poll-The BT, Kleijer WJ, van Oost BA.(2000) ASPA_000028 - ? ? CD Sistermans EA1, de Coo RF, van Beerendonk HM, Poll-The BT, Kleijer WJ, van Oost BA.(2000) - - 1 Y Yang
./. 4 c.541C>A r.(?) p.(Pro181Thr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3392543C>A Schober H1, Luetschg J, Hoeliner I, Kalb S, Simma B.(2011) ASPA_000028 - ? ? CD Schober H1, Luetschg J, Hoeliner I, Kalb S, Simma B.(2011) - - 1 Y Yang
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