RGD:28880498 Rat Genome Database

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Variant: RGD:28880498 -  Homo sapiens

RGD ID: 28880498
RS ID: rs897284135
ClinVar ID: CV891330
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: XPNPEP3  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 41,323,878
GRCh38 22 40,927,874
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_028221.1:g.75794C>A
NM_022098.3:c.*1439C>A
NM_022098.4:c.*1439C>A
NC_000022.10:g.41323878C>A
More... 		01/12/2018 3 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:XPNPEP3
Accession:NM_022098
Location:3UTRS;EXON

Gene Symbol:XPNPEP3
Accession:NM_001204827
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001149340 CLINVAR
dbSNP (RS) rs897284135 CLINVAR
MedGen C3150419 CLINVAR
NCBI Gene XPNPEP3 CLINVAR
OMIM 613159 CLINVAR
  613553 CLINVAR