rs573939509 Rat Genome Database

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Variant: rs573939509 -  Homo sapiens

RGD ID: 13481028
RS ID: rs573939509
ClinVar ID: CV444763
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSD  PRADX  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 1,782,632
GRCh38 11 1,761,402
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.10:g.1761402G>C
NC_000011.9:g.1782632G>C
NP_001900.1:p.Asp45Glu
NM_001909.4:c.135C>G
More... 		09/22/2017 missense variant uncertain significance Ceroid storage disease; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CTSD
Accession:NM_001909
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQPSSLLPLALCLLAAPASALVRIPLHKFTSIRRTMSEVGGSVEELIAKGPVSKYSQAVPAVTEGPIPEVLKNYMDAQYY
GEIGIGTPPQCFTVVFDTGSSNLWVPSIHCKLLDIACWIHHKYNSDKSSTYVKNGTSFDIHYGSGSLSGYLSQDTVSVPC
QSASSASALGGVKVERQVFGEATKQPGITFIAAKFDGILGMAYPRISVNNVLPVFDNLMQQKLVDQNIFSFYLSRDPDAQ
PGGELMLGGTDSKYYKGSLSYLNVTRKAYWQVHLDQVEVASGLTLCKEGCEAIVDTGTSLMVGPVDEVRELQKAIGAVPL
IQGEYMIPCEKVSTLPAITLKLGGKGYKLSPEDYTLKVSQAGKTLCLSGFMGMDIPPPSGPLWILGDVFIGRYYTVFDRD
NNRVGFAEAARL*

Gene Symbol:PRADX
Accession:NR_182291
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000521394 CLINVAR
  RCV001853677 CLINVAR
dbSNP (RS) rs573939509 CLINVAR
MedGen C0027877 CLINVAR
  C3661900 CLINVAR
NCBI Gene CTSD CLINVAR
  PRADX CLINVAR
OMIM 116840 CLINVAR
SNOMED CT 42012007 CLINVAR