Genomic variant #0000760285

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.25304111A>G
Reference -
DB-ID ABHD12_000035
dbSNP ID rs76752183
Frequency 0.014
Allele Count 7
Allele Number 516
Combined Depth 4533
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.02414 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABHD12 NM_015600.4 ./. - c.317-45T>C r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin