Genomic variant #0000115452

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.167108344G>A
Reference -
DB-ID SCN9A_000049
dbSNP ID rs184563685
Frequency 0.001938
Allele Count 1
Allele Number 516
Combined Depth 7738
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00058 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SCN9A NM_002977.3 ./. - c.3370C>T r.(?) p.(Pro1124Ser)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin