Genomic variant #0000418976

Individual ID 00000001
Chromosome 14
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.77506752C>T
Reference -
DB-ID SPTLC2_000040
dbSNP ID rs17105886
Frequency 0.9235
Homozygous 295
Heterozygote 36
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SPTLC2 NM_004863.3 ./. - c.*5532G>A - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin