Genomic variant #0000615830

Individual ID 00000001
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.66928688C>T
Reference dbSNP
DB-ID ABCA8_000023
dbSNP ID rs16973452
Frequency 0.04223
Average frequency (large NGS studies) 0.08185 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     
ABCA8 NM_007168.2 ./. - c.571-33G>A - r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904756 Admin