Genomic variant #0000462277

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.77594665A>G
Reference -
DB-ID SPTLC2_000023
dbSNP ID rs4497612
Frequency 0.1191
Homozygous 3
Heterozygote 74
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.327+2521T>C - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin