RGD:15148849 Rat Genome Database

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Variant: RGD:15148849 -  Homo sapiens

RGD ID: 15148849
RS ID: rs146021958
ClinVar ID: CV724370
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD81  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 2,416,744
GRCh38 11 2,395,514
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004356.4:c.453C>T
NG_023386.1:g.23198C>T
NC_000011.10:g.2395514C>T
NC_000011.9:g.2416744C>T
More... 		03/02/2019 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CD81
Accession:XM_047427933
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 163
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQKLGSSSRSLLKVGELGMAPFVHARAGKTKAQLAGGVILGVALWLRHDPQTTNLLYLELGDKPAPNTFYVGIYILIAV
GAVMMFVGFLGCYGAIQESQCLLGTFFTCLVILFACEVAAGIWGFVNKDQIAKDVKQFYDQALQQAVVDDDANNAKAVVK
TFHETLDCCGSSTLTALTTSVLKNNLCPSGSNIISNLFKEDCHQKIDDLFSGKLYLIGIAAIVVAVIMIFEMILSMVLCC
GIRNSSVY*

Gene Symbol:CD81
Accession:NM_001297649
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMFVGFLGCYGAIQESQCLLGTFFTCLVILFACEVAAGIWGFVNKDQIAKDVKQFYDQALQQAVVDDDANNAKAVVKTFH
ETLDCCGSSTLTALTTSVLKNNLCPSGSNIISNLFKEDCHQKIDDLFSGKLYLIGIAAIVVAVIMIFEMILSMVLCCGIR
NSSVY*

Gene Symbol:CD81
Accession:NM_004356
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 151
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVEGCTKCIKYLLFVFNFVFWLAGGVILGVALWLRHDPQTTNLLYLELGDKPAPNTFYVGIYILIAVGAVMMFVGFLGC
YGAIQESQCLLGTFFTCLVILFACEVAAGIWGFVNKDQIAKDVKQFYDQALQQAVVDDDANNAKAVVKTFHETLDCCGSS
TLTALTTSVLKNNLCPSGSNIISNLFKEDCHQKIDDLFSGKLYLIGIAAIVVAVIMIFEMILSMVLCCGIRNSSVY*

Gene Symbol:CD81
Accession:XM_047427931
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 218
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGAVTSHLPQAGLFCTACLGRWWESLWPSALPWQWGQLGHLGGARLPQARPWDLSRCLVVACFSPGMWERHQTQDVPLP
APEAPSPDELAGGVILGVALWLRHDPQTTNLLYLELGDKPAPNTFYVGIYILIAVGAVMMFVGFLGCYGAIQESQCLLGT
FFTCLVILFACEVAAGIWGFVNKDQIAKDVKQFYDQALQQAVVDDDANNAKAVVKTFHETLDCCGSSTLTALTTSVLKNN
LCPSGSNIISNLFKEDCHQKIDDLFSGKLYLIGIAAIVVAVIMIFEMILSMVLCCGIRNSSVY*

Gene Symbol:CD81
Accession:XM_047427934
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 144
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPFVHARAGKTKAQLAGGVILGVALWLRHDPQTTNLLYLELGDKPAPNTFYVGIYILIAVGAVMMFVGFLGCYGAIQES
QCLLGTFFTCLVILFACEVAAGIWGFVNKDQIAKDVKQFYDQALQQAVVDDDANNAKAVVKTFHETLDCCGSSTLTALTT
SVLKNNLCPSGSNIISNLFKEDCHQKIDDLFSGKLYLIGIAAIVVAVIMIFEMILSMVLCCGIRNSSVY*

Gene Symbol:CD81
Accession:XM_047427932
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 144
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPFVHARAGKTKAQLAGGVILGVALWLRHDPQTTNLLYLELGDKPAPNTFYVGIYILIAVGAVMMFVGFLGCYGAIQES
QCLLGTFFTCLVILFACEVAAGIWGFVNKDQIAKDVKQFYDQALQQAVVDDDANNAKAVVKTFHETLDCCGSSTLTALTT
SVLKNNLCPSGSNIISNLFKEDCHQKIDDLFSGKLYLIGIAAIVVAVIMIFEMILSMVLCCGIRNSSVY*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000879039 CLINVAR
dbSNP (RS) rs146021958 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CD81 CLINVAR
OMIM 186845 CLINVAR