Genomic variant #0000420392

Individual ID 00000001
Chromosome 10
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.104849468G>A
Reference -
DB-ID NT5C2_000001
dbSNP ID rs3740387
Frequency 0.422
Allele Count 217
Allele Number 514
Combined Depth 5436
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.39682 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NT5C2 NM_012229.4 ./. - c.1647C>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin