Genomic variant #0000554038

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.77984540A>C
Reference -
DB-ID SPTLC2_000006
dbSNP ID rs140089337
Frequency 0.023
Allele Count 12
Allele Number 516
Combined Depth 4480
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.02522 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SPTLC2 NM_004863.3 ./. - c.1440-30T>G r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin