Genomic variant #0000420400

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.104851301G>T
Reference -
DB-ID NT5C2_000009
dbSNP ID rs17094683
Frequency 0.103
Allele Count 53
Allele Number 514
Combined Depth 2308
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.07705 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NT5C2 NM_012229.4 ./. - c.1211+20C>A r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin