RGD:8696293 Rat Genome Database

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Variant: RGD:8696293 -  Homo sapiens

RGD ID: 8696293
RS ID: rs312262687
ClinVar ID: CV150211
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZMPSTE24  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 40,737,564
GRCh38 1 40,271,892
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_212:g.18832A>G
NG_008695.1:g.18832A>G
NC_000001.11:g.40271892A>G
NC_000001.10:g.40737564A>G
More... 		splice acceptor variant not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:ZMPSTE24
Accession:XM_047427590
Location:INTRON

Gene Symbol:ZMPSTE24
Accession:XM_047427582
Location:INTRON

Gene Symbol:ZMPSTE24
Accession:NM_005857
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000128749 CLINVAR
dbSNP (RS) rs312262687 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene ZMPSTE24 CLINVAR
OMIM 606480 CLINVAR