Variant #0000001708 (NC_000009.11:g.94809543G>A, SPTLC1(NM_006415.3):c.992C>T)

Individual ID 00001708
Chromosome 9
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.94809543G>A
Reference Suh BC1, Hong YB2, Nakhro K3, Nam SH3, Chung KW3, Choi BO2.(2014)
DB-ID SPTLC1_000004 See all 2 reported entries
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
SPTLC1 NM_006415.3 ./. 11 c.992C>T r.(?) p.(Ser331Phe) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001708 ? ? SPTLC1 1 Y Yang