RGD:13830710 Rat Genome Database

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Variant: RGD:13830710 -  Homo sapiens

RGD ID: 13830710
RS ID: rs370985523
ClinVar ID: CV579713
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSD  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 1,774,802
GRCh38 11 1,753,572
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001900.1:p.Ile390Met
NG_008655.1:g.15421C>G
NC_000011.10:g.1753572G>C
NC_000011.9:g.1774802G>C
More... 		04/08/2017 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CTSD
Accession:NM_001909
Location:EXON
Amino Acid Prediction: I to M (nonsynonymous)
Amino Acid Position: 390
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQPSSLLPLALCLLAAPASALVRIPLHKFTSIRRTMSEVGGSVEDLIAKGPVSKYSQAVPAVTEGPIPEVLKNYMDAQYY
GEIGIGTPPQCFTVVFDTGSSNLWVPSIHCKLLDIACWIHHKYNSDKSSTYVKNGTSFDIHYGSGSLSGYLSQDTVSVPC
QSASSASALGGVKVERQVFGEATKQPGITFIAAKFDGILGMAYPRISVNNVLPVFDNLMQQKLVDQNIFSFYLSRDPDAQ
PGGELMLGGTDSKYYKGSLSYLNVTRKAYWQVHLDQVEVASGLTLCKEGCEAIVDTGTSLMVGPVDEVRELQKAIGAVPL
IQGEYMIPCEKVSTLPAITLKLGGKGYKLSPEDYTLKVSQAGKTLCLSGFMGMDIPPPSGPLWILGDVFMGRYYTVFDRD
NNRVGFAEAARL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002318303 CLINVAR
dbSNP (RS) rs370985523 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene CTSD CLINVAR
OMIM 116840 CLINVAR