Full data view for gene SYT2

Information The variants shown are described using the NM_177402.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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     
./. 8 c.920A>C r.(?) p.(Asp307Ala) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.202568479T>G Herrmann DN1, Horvath R2, Sowden JE1, Gonzalez M, Sanchez-Mejias A3, Guan Z4, Whittaker RG5, Almodovar JL6, Lane M2, Bansagi B2, Pyle A2, Boczonadi V2, Lochmüller H(2014) SYT2_000001 - ? ? LEMS Herrmann DN1, Horvath R2, Sowden JE1, Gonzalez M, Sanchez-Mejias A3, Guan Z4, Whittaker RG5, Almodovar JL6, Lane M2, Bansagi B2, Pyle A2, Boczonadi V2, Lochmüller H(2014) - - 1 Y Yang
./. 8 c.923C>T r.(?) p.(Pro308Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.202568476G>A Herrmann DN1, Horvath R2, Sowden JE1, Gonzalez M, Sanchez-Mejias A3, Guan Z4, Whittaker RG5, Almodovar JL6, Lane M2, Bansagi B2, Pyle A2, Boczonadi V2, Lochmüller H(2014) SYT2_000002 - ? ? LEMS Herrmann DN1, Horvath R2, Sowden JE1, Gonzalez M, Sanchez-Mejias A3, Guan Z4, Whittaker RG5, Almodovar JL6, Lane M2, Bansagi B2, Pyle A2, Boczonadi V2, Lochmüller H(2014) - - 1 Y Yang
Legend   How to query