Genomic variant #0000115453

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.167108385C>T
Reference -
DB-ID SCN9A_000050
dbSNP ID rs74401238
Frequency 0.007752
Allele Count 4
Allele Number 516
Combined Depth 6859
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.02365 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SCN9A NM_002977.3 ./. - c.3329G>A r.(?) p.(Arg1110Gln)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin