Genomic variant #0000274785

Individual ID 00000001
Chromosome 2
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.166242647C>T
Reference -
DB-ID SCN9A_000025
dbSNP ID rs6746030
Frequency 0.1206
Homozygous 8
Heterozygote 66
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SCN9A NM_002977.3 ./. - c.3449G>A r.(?) p.(Trp1150*)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin