Genomic variant #0000554077

Individual ID 00000001
Chromosome 14
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.78063694T>G
Reference -
DB-ID SPTLC2_000045
dbSNP ID rs115191009
Frequency 0.005814
Allele Count 3
Allele Number 516
Combined Depth 4524
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.0123 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SPTLC2 NM_004863.3 ./. - c.162A>C r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin