Genomic variant #0000554059

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.78023519C>G
Reference -
DB-ID SPTLC2_000027
dbSNP ID rs2272587
Frequency 0.496
Allele Count 255
Allele Number 514
Combined Depth 3297
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.4418 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SPTLC2 NM_004863.3 ./. - c.851-30G>C r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin