Genomic variant #0000115465

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.167133540T>G
Reference -
DB-ID SCN9A_000062
dbSNP ID rs12478318
Frequency 0.012
Allele Count 6
Allele Number 516
Combined Depth 9148
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00338 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SCN9A NM_002977.3 ./. - c.2794A>C r.(?) p.(Met932Leu)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin