Genomic variant #0000588809

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.85400499C>T
Reference -
DB-ID ALPK3_000040
dbSNP ID rs115292211
Frequency 0.017
Allele Count 9
Allele Number 516
Combined Depth 9963
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00015 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALPK3 NM_020778.4 ./. - c.3136C>T r.(?) p.(Pro1046Ser)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin