rs796052405 Rat Genome Database

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Variant: rs796052405 -  Homo sapiens

RGD ID: 10397432
RS ID: rs796052405
ClinVar ID: CV202540
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSD  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 1,778,697
GRCh38 11 1,757,467
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008655.1:g.11526C>T
NC_000011.10:g.1757467G>A
NC_000011.9:g.1778697G>A
NP_001900.1:p.Gly187=
More... 		08/28/2014 synonymous variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CTSD
Accession:NM_001909
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 187
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQPSSLLPLALCLLAAPASALVRIPLHKFTSIRRTMSEVGGSVEDLIAKGPVSKYSQAVPAVTEGPIPEVLKNYMDAQYY
GEIGIGTPPQCFTVVFDTGSSNLWVPSIHCKLLDIACWIHHKYNSDKSSTYVKNGTSFDIHYGSGSLSGYLSQDTVSVPC
QSASSASALGGVKVERQVFGEATKQPGITFIAAKFDGILGMAYPRISVNNVLPVFDNLMQQKLVDQNIFSFYLSRDPDAQ
PGGELMLGGTDSKYYKGSLSYLNVTRKAYWQVHLDQVEVASGLTLCKEGCEAIVDTGTSLMVGPVDEVRELQKAIGAVPL
IQGEYMIPCEKVSTLPAITLKLGGKGYKLSPEDYTLKVSQAGKTLCLSGFMGMDIPPPSGPLWILGDVFIGRYYTVFDRD
NNRVGFAEAARL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000187313 CLINVAR
dbSNP (RS) rs796052405 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene CTSD CLINVAR
OMIM 116840 CLINVAR