Genomic variant #0000588794

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.85383145C>G
Reference -
DB-ID ALPK3_000025
dbSNP ID rs3803403
Frequency 0.211
Allele Count 109
Allele Number 516
Combined Depth 9920
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.19848 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALPK3 NM_020778.4 ./. - c.1241C>G r.(?) p.(Thr414Ser)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin