Genomic variant #0000515716

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.121654911T>C
Reference -
DB-ID P2RX4_000013
dbSNP ID rs114352080
Frequency 0.001938
Allele Count 1
Allele Number 516
Combined Depth 8030
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00161 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
P2RX4 NM_001256796.1 ./. - c.183-26T>C r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin