Genomic variant #0000115450

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.167099158A>G
Reference -
DB-ID SCN9A_000047
dbSNP ID rs6746030
Frequency 0.88
Allele Count 454
Allele Number 516
Combined Depth 4677
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.87745 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SCN9A NM_002977.3 ./. - c.3448T>C r.(?) p.(Trp1150Arg)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin