RGD:12905496 Rat Genome Database

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Variant: RGD:12905496 -  Homo sapiens

RGD ID: 12905496
RS ID: rs143335256
ClinVar ID: CV413817
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MBTPS2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 21,863,355
GRCh38 X 21,845,237
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.11:g.21845237G>A
NC_000023.10:g.21863355G>A
NP_056968.1:p.Thr97=
NM_015884.4:c.291G>A
More... 		02/04/2021 synonymous variant conflicting interpretations of pathogenicity|uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:MBTPS2
Accession:NM_015884
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 97
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIPVSLVVVVVGGWTVVYLTDLVLKSSVYFKHSYEDWLENNGLSISPFHIRWQTAVFNRAFYSWGRRKARMLYQWFNFGM
VFGVIAMFSSFFLLGKTLMQTLAQMMADSPSSYSSSSSSSSSSSSSSSSSSSSSSSLHNEQVLQVVVPGINLPVNQLTYF
FTAVLISGVVHEIGHGIAAIREQVRFNGFGIFLFIIYPGAFVDLFTTHLQLISPVQQLRIFCAGIWHNFVLALLGILALV
LLPVILLPFYYTGVGVLITEVAEDSPAIGPRGLFVGDLVTHLQDCPVTNVQDWNECLDTIAYEPQIGYCISASTLQQLSF
PVRAYKRLDGSTECCNNHSLTDVCFSYRNNFNKRLHTCLPARKAVEATQVCRTNKDCKKSSSSSFCIIPSLETHTRLIKV
KHPPQIDMLYVGHPLHLHYTVSITSFIPRFNFLSIDLPVVVETFVKYLISLSGALAIVNAVPCFALDGQWILNSFLDATL
TSVIGDNDVKDLIGFFILLGGSVLLAANVTLGLWMVTAR*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000487570 CLINVAR
dbSNP (RS) rs143335256 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MBTPS2 CLINVAR
OMIM 300294 CLINVAR