Genomic variant #0000588801

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.85384032T>G
Reference -
DB-ID ALPK3_000032
dbSNP ID rs114207635
Frequency 0.003876
Allele Count 2
Allele Number 516
Combined Depth 9791
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00508 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALPK3 NM_020778.4 ./. - c.2128T>G r.(?) p.(Cys710Gly)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin