Genomic variant #0000588852

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.85411581C>T
Reference -
DB-ID ALPK3_000083
dbSNP ID rs36002219
Frequency 0.003876
Allele Count 2
Allele Number 516
Combined Depth 7273
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00269 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALPK3 NM_020778.4 ./. - c.5618C>T r.(?) p.(Ala1873Val)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin