Genomic variant #0000356108

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.215107336A>C
Reference -
DB-ID ABCA12_000040
dbSNP ID rs2970963
Frequency 0.0574
Homozygous 4
Heterozygote 30
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.163+4261T>G - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin