Genomic variant #0000431835

Individual ID 00000001
Chromosome 5
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.149059001A>C
Reference -
DB-ID SH3TC2_000020
dbSNP ID rs250675
Frequency 0.8162
Homozygous 228
Heterozygote 97
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SH3TC2 NM_024577.3 ./. - c.52+3970T>G - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin