Genomic variant #0000836014

Individual ID 00000001
Chromosome 10
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.12143105C>G
Reference dbSNP
DB-ID DHTKD1_000003
dbSNP ID rs2062988
Frequency 0.27534
Average frequency (large NGS studies) 0.74204 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     
DHTKD1 NM_018706.6 ./. - c.1821C>G - r.(?) p.(Ile607Met)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904756 Admin