Genomic variant #0000760258

Individual ID 00000001
Chromosome 20
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.25282967C>T
Reference -
DB-ID ABHD12_000008
dbSNP ID rs746748
Frequency 0.066
Allele Count 34
Allele Number 516
Combined Depth 5419
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.04267 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABHD12 NM_015600.4 ./. - c.1045G>A r.(?) p.(Ala349Thr)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin