Genomic variant #0000588833

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.85403340C>T
Reference -
DB-ID ALPK3_000064
dbSNP ID rs2289140
Frequency 0.05
Allele Count 26
Allele Number 516
Combined Depth 4390
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.07913 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALPK3 NM_020778.4 ./. - c.4735+37C>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin