rs2133661989 Rat Genome Database

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Variant: rs2133661989 -  Homo sapiens

RGD ID: 151861397
RS ID: rs2133661989
ClinVar ID: CV1353686
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSD  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 1,778,642
GRCh38 11 1,757,412
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001909.5:c.616A>G
NG_008655.1:g.11581A>G
NC_000011.10:g.1757412T>C
NC_000011.9:g.1778642T>C
More... 		10/05/2022 missense variant uncertain significance Ceroid storage disease
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 V (nonsynonymous)
Amino Acid Position: 206
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQPSSLLPLALCLLAAPASALVRIPLHKFTSIRRTMSEVGGSVEDLIAKGPVSKYSQAVPAVTEGPIPEVLKNYMDAQYY
GEIGIGTPPQCFTVVFDTGSSNLWVPSIHCKLLDIACWIHHKYNSDKSSTYVKNGTSFDIHYGSGSLSGYLSQDTVSVPC
QSASSASALGGVKVERQVFGEATKQPGITFIAAKFDGILGMAYPRVSVNNVLPVFDNLMQQKLVDQNIFSFYLSRDPDAQ
PGGELMLGGTDSKYYKGSLSYLNVTRKAYWQVHLDQVEVASGLTLCKEGCEAIVDTGTSLMVGPVDEVRELQKAIGAVPL
IQGEYMIPCEKVSTLPAITLKLGGKGYKLSPEDYTLKVSQAGKTLCLSGFMGMDIPPPSGPLWILGDVFIGRYYTVFDRD
NNRVGFAEAARL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001959268 CLINVAR
dbSNP (RS) rs2133661989 CLINVAR
MedGen C0027877 CLINVAR
NCBI Gene CTSD CLINVAR
OMIM 116840 CLINVAR
SNOMED CT 42012007 CLINVAR