Genomic variant #0000515738

Individual ID 00000001
Chromosome 12
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.121666476C>T
Reference -
DB-ID P2RX4_000014
dbSNP ID rs3815989
Frequency 0.101
Allele Count 52
Allele Number 516
Combined Depth 7066
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.11738 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
P2RX4 NM_001256796.1 ./. - c.654-52C>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin