Genomic variant #0000127897

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.219130514G>A
Reference -
DB-ID AAMP_000014
dbSNP ID rs1079204
Frequency 0.047
Allele Count 24
Allele Number 516
Combined Depth 5506
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.03237 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AAMP NM_001087.3 ./. - c.879+40C>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin