RGD:15163417 Rat Genome Database

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Variant: RGD:15163417 -  Homo sapiens

RGD ID: 15163417
RS ID: rs73901170
ClinVar ID: CV778450
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: USP16  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 30,419,651
GRCh38 21 29,047,330
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001001992.2:c.2008+9A>G
NM_001032410.2:c.2011+9A>G
NM_001032410.1:c.2011+9A>G
NC_000021.8:g.30419651A>G
More...
05/18/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:USP16
Accession:NM_006447
Location:INTRON

Gene Symbol:USP16
Accession:NM_001001992
Location:INTRON

Gene Symbol:USP16
Accession:NM_001032410
Location:INTRON

Gene Symbol:USP16
Accession:XM_017028258
Location:INTRON

Gene Symbol:USP16
Accession:XM_017028257
Location:INTRON

Gene Symbol:USP16
Accession:XM_017028259
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000948081 CLINVAR
dbSNP (RS) rs73901170 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene USP16 CLINVAR
OMIM 604735 CLINVAR