Variant #0000698777 (NC_000003.11:g.183774762C>A, HTR3C(NM_130770.2):c.489C>A)

Individual ID 00315446
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification association
DNA change (genomic) (Relative to hg19 / GRCh37) g.183774762C>A
DNA change (hg38) g.184056974C>A
Published as p.N163K; (c.523C>A)
ISCN -
DB-ID HTR3C_000001 See all 6 reported entries
Variant remarks -
Reference PubMed: Rehnstrom 2009
ClinVar ID -
dbSNP ID rs6766410
Origin Germline
Segregation -
Frequency 0.42
Re-site +BsrI; -Hpy166II, BssKI, BstNI, PspGI, ScrFI, StyD4I
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.45134 View details
Owner Louise Amlie-Wolf
Database submission license No license selected
Created by Louise Amlie-Wolf
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
HTR3C NM_130770.2 +/+ 5 c.489C>A r.(?) p.(Asn163Lys) N-term, Cys-loop



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000316622 DNA PE blood allele-specific primer extension HTR3C 1 Louise Amlie-Wolf