RGD:12849966 Rat Genome Database

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Variant: RGD:12849966 -  Homo sapiens

RGD ID: 12849966
RS ID: rs766311956
ClinVar ID: CV375262
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PNPO  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 46,022,960
GRCh38 17 47,945,594
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008744.1:g.9072G>A
NC_000017.11:g.47945594G>A
NC_000017.10:g.46022960G>A
NP_060599.1:p.Trp133Ter
More... 		09/29/2017 nonsense pathogenic|likely pathogenic none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PNPO
Accession:NM_018129
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTCWLRGVTATFGRPAEWPGYLSHLCGRSAAMDLGPMRKSYRGDREAFEETHLTSLDPVKQFAAWFEEAVQCPDIGEANA
MCLATCTRDGKPSARMLLLKGFGKDGFRFFTNFESRKGKELDSNPFASLVFY*EPLNRQVRVEGPVKKLPEEEAECYFHS
RPKSSQIGAVVSHQSSVIPDREYLRKKNEELEQLYQDQEVPKPKSWGGYVLYPQVMEFWQGQTNRLHDRIVFRRGLPTGD
SPLGPMTHRGEEDWLYERLAP*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000439228 CLINVAR
  RCV002374714 CLINVAR
dbSNP (RS) rs766311956 CLINVAR
MedGen C0950123 CLINVAR
  CN517202 CLINVAR
NCBI Gene PNPO CLINVAR
OMIM 603287 CLINVAR