Genomic variant #0000241346

Individual ID 00000001
Chromosome 5
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.148407893C>A
Reference -
DB-ID SH3TC2_000043
dbSNP ID rs6875902
Frequency 0.202
Allele Count 104
Allele Number 516
Combined Depth 13058
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.23828 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SH3TC2 NM_024577.3 ./. - c.1402G>T r.(?) p.(Ala468Ser)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin