Genomic variant #0000760288

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.25320228T>A
Reference -
DB-ID ABHD12_000038
dbSNP ID rs6050544
Frequency 0.566
Allele Count 292
Allele Number 516
Combined Depth 4259
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.58458 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABHD12 NM_015600.4 ./. - c.192-241A>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin