RGD:8559999 Rat Genome Database

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Variant: RGD:8559999 -  Homo sapiens

RGD ID: 8559999
RS ID: rs2229707
ClinVar ID: CV22615
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UCP3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 73,717,247
GRCh38 11 74,006,202
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011515.1:g.8036G>A
NC_000011.10:g.74006202C>T
NC_000011.9:g.73717247C>T
NP_003347.1:p.Val102Ile
More... 		11/30/2021 missense variant pathogenic|benign none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:UCP3
Accession:NM_003356
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGLKPSDVPPTMAVKFLGAGTAACFADLVTFPLDTAKVRLQIQGENQAVQTARLVQYRGVLGTILTMVRTEGPCSPYNG
LVAGLQRQMSFASIRIGLYDSIKQVYTPKGADNSSLTTRILAGCTTGAMAVTCAQPTDVVKVRFQASIHLGPSRSDRKYS
GTMDAYRTIAREEGVRGLWKGTLPNIMRNAIVNCAEVVTYDILKEKLLDYHLLTDNFPCHFVSAFGAGFCATVVASPVDV
VKTRYMNSPPGQYFSPLDCMIKMVAQEGPTAFYKGFTPSFLRLGSWNVVMFVTYEQLKRALMKVQMLRESPF*

Gene Symbol:UCP3
Accession:XM_047427519
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGLKPSDVPPTMAVKFLGAGTAACFADLVTFPLDTAKVRLQIQGENQAVQTARLVQYRGVLGTILTMVRTEGPCSPYNG
LVAGLQRQMSFASIRIGLYDSIKQVYTPKGADNSSLTTRILAGCTTGAMAVTCAQPTDVVKVRFQASIHLGPSRSDRKYS
GTMDAYRTIAREEGVRGLWKGTLPNIMRNAIVNCAEVVTYDILKEKLLDYHLLTDNFPCHFVSAFGAGFCATVVASPVDV
VKTRYMNSPPGQYFSPLDCMIKMVAQEGPTAFYKGFTPSFLRLGSWNVVMFVTYEQLKRALMKVQMLRESPF*

Gene Symbol:UCP3
Accession:NM_022803
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGLKPSDVPPTMAVKFLGAGTAACFADLVTFPLDTAKVRLQIQGENQAVQTARLVQYRGVLGTILTMVRTEGPCSPYNG
LVAGLQRQMSFASIRIGLYDSIKQVYTPKGADNSSLTTRILAGCTTGAMAVTCAQPTDVVKVRFQASIHLGPSRSDRKYS
GTMDAYRTIAREEGVRGLWKGTLPNIMRNAIVNCAEVVTYDILKEKLLDYHLLTDNFPCHFVSAFGAGFCATVVASPVDV
VKTRYMNSPPGQYFSPLDCMIKMVAQEGPTAFYKG*

Gene Symbol:UCP3
Accession:XR_007062495
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9769326   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000008012 CLINVAR
  RCV000008013 CLINVAR
  RCV002054426 CLINVAR
dbSNP (RS) rs2229707 CLINVAR
MedGen C3661900 CLINVAR
  C4016768 CLINVAR
NCBI Gene UCP3 CLINVAR
OMIM 602044 CLINVAR
OMIM Allele 602044.0001 CLINVAR