Variant #0000005393 (NC_000017.10:g.3397701A>G, ASPA(NM_000049.2):c.692A>G)

Individual ID 00005413
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.3397701A>G
Reference Zayed H (2015)
DB-ID ASPA_000024 See all 2 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
ASPA NM_000049.2 ./. 5 c.692A>G r.(?) p.(Tyr231Cys) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005418 ? ? ASPA 1 XY Liu