RGD:8646124 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:8646124 -  Homo sapiens

RGD ID: 8646124
RS ID: rs114970739
ClinVar ID: CV105537
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GRM6  ZNF454  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 178,408,861
GRCh38 5 178,981,860
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008105.1:g.18264G>A
NC_000005.10:g.178981860C>T
NC_000005.9:g.178408861C>T
NM_000843.4:c.2437-6G>A
More...
12/02/2020 intron variant benign|not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:ZNF454
Accession:NM_001323309
Location:INTRON

Gene Symbol:ZNF454
Accession:NM_001323310
Location:INTRON

Gene Symbol:ZNF454
Accession:NM_182594
Location:INTRON

Gene Symbol:ZNF454
Accession:NM_001323308
Location:INTRON

Gene Symbol:GRM6
Accession:NM_000843
Location:INTRON

Gene Symbol:ZNF454
Accession:NM_001323307
Location:INTRON

Gene Symbol:ZNF454
Accession:NM_001178090
Location:INTRON

Gene Symbol:ZNF454
Accession:NM_001323306
Location:INTRON

Gene Symbol:ZNF454
Accession:NM_001178089
Location:INTRON

Gene Symbol:ZNF454
Accession:XR_007058600
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000086052 CLINVAR
dbSNP (RS) rs114970739 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GRM6 CLINVAR
  ZNF454 CLINVAR
OMIM 604096 CLINVAR