Genomic variant #0000336395

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.99710327G>T
Reference -
DB-ID ENTPD7_000011
dbSNP ID rs1000984
Frequency 0.0132
Homozygous 1
Heterozygote 7
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ENTPD7 NM_020354.3 ./. - c.*5644G>T - -
COX15 NM_078470.4 ./. - c.*4260C>A - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin