RGD:13837035 Rat Genome Database

RGD ID:

13837035

RS ID:

rs1563363893

ClinVar ID:

CV588319

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	8	65,528,259
GRCh38	8	64,615,702

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_008338.2:g.188090T>C NC_000008.11:g.64615702A>G NC_000008.10:g.65528259A>G NP_004811.1:p.Leu280Pro More...	05/21/2018	missense variant	uncertain significance	none provided

Variant Details

Variant Transcripts

Gene Symbol:	CYP7B1
Accession:	NM_004820
Location:	EXON
Amino Acid Prediction:	L to P (nonsynonymous)
Amino Acid Position:	280

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGEVSAATGRFSLERLGLPGLALAAALLLLALCLLVRRTRRPGEPPLIKGWLPYLGVVLNLRKDPLRFMKTLQKQHGDT FTVLLGGKYITFILDPFQYQLVIKNHKQLSFRVFSNKLLEKAFSISQLQKNHDMNDELHLCYQFLQGKSLDILLESMMQN LKQVFEPQLLKTTSWDTAELYPFCSSIIFEITFTTIYGKVIVCDNNKFISELRDDFLKFDDKFAYLVSNIPIELLGNVKS IREKIIKCFSSEKLAKMQGWSEVFQSRQDVLEKYYVHEDPEIGAHHLGFLWASVANTIPTMFWAMYYLLRHPEAMAAVRD EIDRLLQSTGQKKGSGFPIHLTREQLDSLICLESSIFEALRLSSYSTTIRFVEEDLTLSSETGDYCVRKGDLVAIFPPVL HGDPEIFEAPEEFRYDRFIEDGKKKTTFFKRGKKLKCYLMPFGTGTSKCPGRFFALMEIKQLLVILLTYFDLEIIDDKPI GLNYSRLLFGIQYPDSDVLFRYKVKS*

Gene Symbol:	CYP7B1
Accession:	NM_001324112
Location:	EXON
Amino Acid Prediction:	L to P (nonsynonymous)
Amino Acid Position:	280

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGEVSAATGRFSLERLGLPGLALAAALLLLALCLLVRRTRRPGEPPLIKGWLPYLGVVLNLRKDPLRFMKTLQKQHGDT FTVLLGGKYITFILDPFQYQLVIKNHKQLSFRVFSNKLLEKAFSISQLQKNHDMNDELHLCYQFLQGKSLDILLESMMQN LKQVFEPQLLKTTSWDTAELYPFCSSIIFEITFTTIYGKVIVCDNNKFISELRDDFLKFDDKFAYLVSNIPIELLGNVKS IREKIIKCFSSEKLAKMQGWSEVFQSRQDVLEKYYVHEDPEIGAHHLGFLWASVANTIPTMFWAMYYLLRHPEAMAAVRD EIDRLLQSTGQKKGSGFPIHLTREQLDSLICLESSIFEALRLSSYSTTIRFVEEDLTLSSETGDYCVRKGDLVAIFPPVL HGDPEIFEAPEQTVLTGETRGMEITELSNLYFCTAYSREKWRRERRKIHTHILVYLIILQ*

Gene Symbol:	CYP7B1
Accession:	XM_017014002
Location:	EXON
Amino Acid Prediction:	L to P (nonsynonymous)
Amino Acid Position:	302

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEVTLMLRWSSRGCFMRIESEQSTVDSIVALWEDIQLMLTDCNPLRQDLDIYTLQLPEKTCLRRPGEPPLIKGWLPYLGV VLNLRKDPLRFMKTLQKQHGDTFTVLLGGKYITFILDPFQYQLVIKNHKQLSFRVFSNKLLEKAFSISQLQKNHDMNDEL HLCYQFLQGKSLDILLESMMQNLKQVFEPQLLKTTSWDTAELYPFCSSIIFEITFTTIYGKVIVCDNNKFISELRDDFLK FDDKFAYLVSNIPIELLGNVKSIREKIIKCFSSEKLAKMQGWSEVFQSRQDVLEKYYVHEDPEIGAHHLGFLWASVANTI PTMFWAMYYLLRHPEAMAAVRDEIDRLLQSTGQKKGSGFPIHLTREQLDSLICLESSIFEALRLSSYSTTIRFVEEDLTL SSETGDYCVRKGDLVAIFPPVLHGDPEIFEAPEEFRYDRFIEDGKKKTTFFKRGKKLKCYLMPFGTGTSKCPGRFFALME IKQLLVILLTYFDLEIIDDKPIGLNYSRLLFGIQYPDSDVLFRYKVKS*

Variant Samples

Additional Information

External Database Links

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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