Variant #0000000506 (NC_000021.8:g.33032131G>A, SOD1(NM_000454.4):c.49G>A)

Individual ID 00000506
Chromosome 21
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.33032131G>A
Reference Kawamata J1, Shimohama S, Takano S, Harada K, Ueda K, Kimura J.(1997)
DB-ID SOD1_000075
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
SOD1 NM_000454.4 ./. 1 c.49G>A r.(?) p.(Gly17Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000506 ? ? SOD1 1 Y Yang