Genomic variant #0000403856

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.148999991C>G
Reference -
DB-ID SH3TC2_000031
dbSNP ID rs6885467
Frequency 0.1426
Homozygous 9
Heterozygote 79
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.*4720G>C - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin