Genomic variant #0000127899

Individual ID 00000001
Chromosome 2
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.219130802T>C
Reference -
DB-ID AAMP_000016
dbSNP ID rs2305835
Frequency 0.012
Allele Count 6
Allele Number 516
Combined Depth 9106
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     
AAMP NM_001087.3 ./. - c.748A>G r.(?) p.(Ile250Val)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin