RGD:15139668 Rat Genome Database

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Variant: RGD:15139668 -  Homo sapiens

RGD ID: 15139668
RS ID: rs372129042
ClinVar ID: CV737924
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD81  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 2,415,416
GRCh38 11 2,394,186
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001297649.2:c.60G>A
NP_004347.1:p.Leu91=
NC_000011.9:g.2415416G>A
NM_004356.4:c.273G>A
More... 		12/20/2017 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CD81
Accession:NM_001297649
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMFVGFLGCYGAIQESQCLLGTFFTCLVILFACEVAAGIWGFVNKDQIAKDVKQFYDQALQQAVVDDDANNAKAVVKTFH
ETLDCCGSSTLTALTTSVLKNNLCPSGSNIISNLFKEDCHQKIDDLFSGKLYLIGIAAIVVAVIMIFEMILSMVLCCGIR
NSSVY*

Gene Symbol:CD81
Accession:XM_047427934
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPFVHARAGKTKAQLAGGVILGVALWLRHDPQTTNLLYLELGDKPAPNTFYVGIYILIAVGAVMMFVGFLGCYGAIQES
QCLLGTFFTCLVILFACEVAAGIWGFVNKDQIAKDVKQFYDQALQQAVVDDDANNAKAVVKTFHETLDCCGSSTLTALTT
SVLKNNLCPSGSNIISNLFKEDCHQKIDDLFSGKLYLIGIAAIVVAVIMIFEMILSMVLCCGIRNSSVY*

Gene Symbol:CD81
Accession:XM_047427931
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 158
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGAVTSHLPQAGLFCTACLGRWWESLWPSALPWQWGQLGHLGGARLPQARPWDLSRCLVVACFSPGMWERHQTQDVPLP
APEAPSPDELAGGVILGVALWLRHDPQTTNLLYLELGDKPAPNTFYVGIYILIAVGAVMMFVGFLGCYGAIQESQCLLGT
FFTCLVILFACEVAAGIWGFVNKDQIAKDVKQFYDQALQQAVVDDDANNAKAVVKTFHETLDCCGSSTLTALTTSVLKNN
LCPSGSNIISNLFKEDCHQKIDDLFSGKLYLIGIAAIVVAVIMIFEMILSMVLCCGIRNSSVY*

Gene Symbol:CD81
Accession:XM_047427933
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQKLGSSSRSLLKVGELGMAPFVHARAGKTKAQLAGGVILGVALWLRHDPQTTNLLYLELGDKPAPNTFYVGIYILIAV
GAVMMFVGFLGCYGAIQESQCLLGTFFTCLVILFACEVAAGIWGFVNKDQIAKDVKQFYDQALQQAVVDDDANNAKAVVK
TFHETLDCCGSSTLTALTTSVLKNNLCPSGSNIISNLFKEDCHQKIDDLFSGKLYLIGIAAIVVAVIMIFEMILSMVLCC
GIRNSSVY*

Gene Symbol:CD81
Accession:NM_004356
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 91
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVEGCTKCIKYLLFVFNFVFWLAGGVILGVALWLRHDPQTTNLLYLELGDKPAPNTFYVGIYILIAVGAVMMFVGFLGC
YGAIQESQCLLGTFFTCLVILFACEVAAGIWGFVNKDQIAKDVKQFYDQALQQAVVDDDANNAKAVVKTFHETLDCCGSS
TLTALTTSVLKNNLCPSGSNIISNLFKEDCHQKIDDLFSGKLYLIGIAAIVVAVIMIFEMILSMVLCCGIRNSSVY*

Gene Symbol:CD81
Accession:XM_047427932
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPFVHARAGKTKAQLAGGVILGVALWLRHDPQTTNLLYLELGDKPAPNTFYVGIYILIAVGAVMMFVGFLGCYGAIQES
QCLLGTFFTCLVILFACEVAAGIWGFVNKDQIAKDVKQFYDQALQQAVVDDDANNAKAVVKTFHETLDCCGSSTLTALTT
SVLKNNLCPSGSNIISNLFKEDCHQKIDDLFSGKLYLIGIAAIVVAVIMIFEMILSMVLCCGIRNSSVY*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000899184 CLINVAR
  RCV003958111 CLINVAR
dbSNP (RS) rs372129042 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CD81 CLINVAR
OMIM 186845 CLINVAR