Genomic variant #0000115440

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.167094638T>C
Reference -
DB-ID SCN9A_000037
dbSNP ID rs141268327
Frequency 0.012
Allele Count 6
Allele Number 516
Combined Depth 3158
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.0054 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SCN9A NM_002977.3 ./. - c.3734A>G r.(?) p.(Asn1245Ser)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin