Genomic variant #0000000093

Individual ID 00000001
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.876499A>G
Reference -
DB-ID SAMD11_000037
dbSNP ID rs4372192
Frequency 0.942
Allele Count 486
Allele Number 516
Combined Depth 3718
Homozygous 230
Heterozygote 26
Average frequency (large NGS studies) 0.91929 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SAMD11 NM_152486.2 ./. - c.707-25A>G r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin