Genomic variant #0000684366

Individual ID 00000001
Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.31689976C>G
Reference -
DB-ID ABHD16A_000002
dbSNP ID rs707917
Frequency 0.3926
Homozygous 46
Heterozygote 174
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABHD16A NM_001177515.1 ./. - c.858+102G>C - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin