Genomic variant #0000645734

Individual ID 00000001
Chromosome 2
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.214933506C>T
Reference -
DB-ID ABCA12_000058
dbSNP ID rs3886119
Frequency 0.9485
Homozygous 305
Heterozygote 33
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCA12 NM_173076.2 ./. - c.7680+572G>A - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin