Genomic variant #0000588846

Individual ID 00000001
Chromosome 15
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.85407919G>A
Reference -
DB-ID ALPK3_000077
dbSNP ID rs73437966
Frequency 0.005814
Allele Count 3
Allele Number 516
Combined Depth 5590
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.01361 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALPK3 NM_020778.4 ./. - c.5329+23G>A r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin