Genomic variant #0000420402

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.104851400G>A
Reference -
DB-ID NT5C2_000011
dbSNP ID rs79438485
Frequency 0.025
Allele Count 13
Allele Number 516
Combined Depth 3996
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.01207 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NT5C2 NM_012229.4 ./. - c.1160-28C>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin