Genomic variant #0000500221

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.57892174C>A
Reference -
DB-ID MARS_000024
dbSNP ID rs114852246
Frequency 0.005837
Allele Count 3
Allele Number 514
Combined Depth 2075
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.02061 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MARS NM_004990.3 ./. - c.888-29C>A r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin