Genomic variant #0000554079

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.78082952C>A
Reference -
DB-ID SPTLC2_000047
dbSNP ID rs142320856
Frequency 0.045
Allele Count 23
Allele Number 516
Combined Depth 5614
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.01665 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SPTLC2 NM_004863.3 ./. - c.-30G>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin