Genomic variant #0000007394

Individual ID 00000001
Chromosome 10
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.103146453C>T
Reference -
DB-ID NT5C2_000005
dbSNP ID rs11191580
Frequency 0.8912
Homozygous 274
Heterozygote 56
Average frequency (large NGS studies) Variant not found in online data sets
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NT5C2 NM_012229.4 ./. - c.102-6974G>A - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin