RGD:10411836 Rat Genome Database

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Variant: RGD:10411836 -  Homo sapiens

RGD ID: 10411836
RS ID: rs863223373
ClinVar ID: CV205517
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MBTPS2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 21,896,202
GRCh38 X 21,878,084
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_015884.4:c.1013A>T
NG_012797.2:g.43547A>T
NM_015884.3:c.1013A>T
NG_012797.1:g.43547A>T
More... 		10/31/2014 missense variant benign
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:MBTPS2
Accession:NM_015884
Location:EXON
Amino Acid Prediction: H to L (nonsynonymous)
Amino Acid Position: 338
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIPVSLVVVVVGGWTVVYLTDLVLKSSVYFKHSYEDWLENNGLSISPFHIRWQTAVFNRAFYSWGRRKARMLYQWFNFGM
VFGVIAMFSSFFLLGKTLMQTLAQMMADSPSSYSSSSSSSSSSSSSSSSSSSSSSSLHNEQVLQVVVPGINLPVNQLTYF
FTAVLISGVVHEIGHGIAAIREQVRFNGFGIFLFIIYPGAFVDLFTTHLQLISPVQQLRIFCAGIWHNFVLALLGILALV
LLPVILLPFYYTGVGVLITEVAEDSPAIGPRGLFVGDLVTHLQDCPVTNVQDWNECLDTIAYEPQIGYCISASTLQQLSF
PVRAYKRLDGSTECCNNLSLTDVCFSYRNNFNKRLHTCLPARKAVEATQVCRTNKDCKKSSSSSFCIIPSLETHTRLIKV
KHPPQIDMLYVGHPLHLHYTVSITSFIPRFNFLSIDLPVVVETFVKYLISLSGALAIVNAVPCFALDGQWILNSFLDATL
TSVIGDNDVKDLIGFFILLGGSVLLAANVTLGLWMVTAR*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000201401 CLINVAR
dbSNP (RS) rs863223373 CLINVAR
MedGen C1837249 CLINVAR
NCBI Gene MBTPS2 CLINVAR
OMIM 300294 CLINVAR