Genomic variant #0000500224

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.57894052G>C
Reference -
DB-ID MARS_000027
dbSNP ID rs141937312
Frequency 0.005814
Allele Count 3
Allele Number 516
Combined Depth 2639
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00349 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MARS NM_004990.3 ./. - c.1092-52G>C r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin