Genomic variant #0000115491

Individual ID 00000001
Chromosome 2
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.167142979C>T
Reference -
DB-ID SCN9A_000088
dbSNP ID rs58022607
Frequency 0.037
Allele Count 19
Allele Number 516
Combined Depth 6217
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.04266 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SCN9A NM_002977.3 ./. - c.1469G>A r.(?) p.(Ser490Asn)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin