RGD:13830833 Rat Genome Database

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Variant: RGD:13830833 -  Homo sapiens

RGD ID: 13830833
RS ID: rs782047632
ClinVar ID: CV581118
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SYP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 49,050,648
GRCh38 X 49,194,191
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012532.1:g.11014G>A
NC_000023.11:g.49194191C>T
NC_000023.10:g.49050648C>T
NP_003170.1:p.Arg133Gln
More...
06/05/2013 missense variant likely benign

Variant Details
Variant Transcripts
Gene Symbol:SYP
Accession:NM_003179
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLADMDVVNQLVAGGQFRVVKEPLGFVKVLQWVFAIFAFATCGSYSGELQLSVDCANKTESDLSIEVEFEYPFRLHQV
YFDAPTCRGGTTKVFLVGDYSSSAEFFVTVAVFAFLYSMGALATYIFLQNKYQENNKGPMLDFLATAVFAFMWLVSSSAW
AKGLSDVKMATDPENIIKEMPVCRQTGNTCKELRDPVTSGLNTSVVFGFLNLVLWVGNLWFVFKETGWAAPFLRAPPGAP
EKQPAPGDAYGDAGYGQGPGGYGPQDSYGPQGGYQPDYGQPAGSGGSGYGPQGDYGQQGYGPQGAPTSFSNQM*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000721082 CLINVAR
dbSNP (RS) rs782047632 CLINVAR
MedGen C2711754 CLINVAR
NCBI Gene SYP CLINVAR
OMIM 313475 CLINVAR