Genomic variant #0000500235

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.57908587_57908588insCAGGGTTTCAGCATTGGCCGGTTGCTGGGCGATATTCTGCGCCAGGTTCTCGACCAGTTTGATAC
Reference -
DB-ID MARS_000038
dbSNP ID -
Frequency -
Allele Count -
Allele Number -
Combined Depth -
Homozygous -
Heterozygote -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MARS NM_004990.3 ./. - c.2052_2053insCAGGGTTTCAGCATTGGCCGGTTGCTGGGCGATATTCTGCGCCAGGTTCTCGACCAGTTTGATAC r.(?) p.(Val685Glnfs*59)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin