Genomic variant #0000420399

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.104851285G>A
Reference -
DB-ID NT5C2_000008
dbSNP ID rs10883830
Frequency 0.252
Allele Count 129
Allele Number 512
Combined Depth 1906
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.31911 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NT5C2 NM_012229.4 ./. - c.1211+36C>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin