RGD:8555649 Rat Genome Database

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Variant: RGD:8555649 -  Homo sapiens

RGD ID: 8555649
RS ID: rs104894278
ClinVar ID: CV15521
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTS  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 112,099,372
GRCh38 11 112,228,649
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008743.1:g.7285A>G
NC_000011.10:g.112228649A>G
NC_000011.9:g.112099372A>G
NP_000308.1:p.Asn47Asp
More...
09/08/2009 missense|missense variant pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PTS
Accession:NM_000317
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTEGGGRRCQAQVSRRISFSASHRLYSKFLSDEENLKLFGKCNNPDGHGHNYKVVVTVHGEIDPATGMVMNLADLKKYM
EEAIMQPLDHKNLDMDVPYFADVVSTTENVAVYIWDNLQKVLPVGVLYKVKVYETDNNIVVYKGE*

Variant Samples
Additional References at PubMed
PMID:10220141  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000000511 CLINVAR
dbSNP (RS) rs104894278 CLINVAR
MedGen C4017280 CLINVAR
NCBI Gene PTS CLINVAR
OMIM 612719 CLINVAR
OMIM Allele 612719.0007 CLINVAR