Variant #0000000866 (NC_000017.10:g.3402354C>A, ASPA(NM_000049.2):c.914C>A)

Individual ID 00000866
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.3402354C>A
Reference Delaney KE1, Kralik SF2, Hainline BE3, Golomb MR4.(2015)
DB-ID ASPA_000005 See all 3 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00021 View details
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     
ASPA NM_000049.2 ./. 6 c.914C>A r.(?) p.(Ala305Glu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000866 ? ? ASPA 1 Y Yang