Variant #0000005419 (NC_000017.10:g.3397702C>T, ASPA(NM_000049.2):c.693C>T)

Individual ID 00005420
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.3397702C>T
Reference Zaki OK et al. (2017)
DB-ID ASPA_000067
Frequency -
Average frequency (gnomAD v.2.1.1) 0.26024 View details
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
Options




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.693C>T r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005425 ? ? ASPA 6 XY Liu