Genomic variant #0000237431

Individual ID 00000001
Chromosome 5
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.138456815T>C
Reference -
DB-ID SIL1_000018
dbSNP ID rs3088052
Frequency 0.465
Allele Count 240
Allele Number 516
Combined Depth 6817
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.51422 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SIL1 NM_022464.4 ./. - c.153A>G r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin