RGD:401875900 Rat Genome Database

RGD ID:

401875900

ClinVar ID:

CV2777576

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	1	158,300,661
GRCh38	1	158,330,871

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001764.3:c.253G>A NC_000001.11:g.158330871C>T NC_000001.10:g.158300661C>T NM_001764.2:c.253G>A NP_001755.1:p.Glu85Lys More...	08/15/2023	missense variant	uncertain significance

Disease Annotations Click to see Annotation Detail View

Variant Details

Variant Transcripts

Gene Symbol:	CD1B
Accession:	NM_001764
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	85

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLLPFQLLAVLFPGGNSEHAFQGPTSFHVIQTSSFTNSTWAQTQGSGWLDDLQIHGWDSDSGTAIFLKPWSKGNFSDKE VAELKEIFRVYIFGFAREVQDFAGDFQMKYPFEIQGIAGCELHSGGAIVSFLRGALGGLDFLSVKNASCVPSPEGGSRAQ KFCALIIQYQGIMETVRILLYETCPRYLLGVLNAGKADLQRQVKPEAWLSSGPSPGPGRLQLVCHVSGFYPKPVWVMWMR GEQEQQGTQLGDILPNANWTWYLRATLDVADGEAAGLSCRVKHSSLEGQDIILYWRNPTSIGSIVLAIIVPSLLLLLCLA LWYMRRRSYQNIP*

Gene Symbol:	CD1B
Accession:	XM_011510119
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	85

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLLPFQLLAVLFPGGNSEHAFQGPTSFHVIQTSSFTNSTWAQTQGSGWLDDLQIHGWDSDSGTAIFLKPWSKGNFSDKE VAELKEIFRVYIFGFAREVQDFAGDFQMKYPFEIQGIAGCELHSGGAIVSFLRGALGGLDFLSVKNASCVPSPEGGSRAQ KFCALIIQYQGIMETVRILLYETCPRYLLGVLNAGKADLQRQVKPEAWLSSGPSPGPGRLQLVCHVSGFYPKPVWVMWMR GNPTSIGSIVLAIIVPSLLLLLCLALWYMRRRSYQNIP*

Gene Symbol:	CD1B
Accession:	XM_017002785
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	85

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLLPFQLLAVLFPGGNSEHAFQGPTSFHVIQTSSFTNSTWAQTQGSGWLDDLQIHGWDSDSGTAIFLKPWSKGNFSDKE VAELKEIFRVYIFGFAREVQDFAGDFQMKYPFEIQGIAGCELHSGGAIVSFLRGALGGLDFLSVKNASCVPSPEGGSRAQ KFCALIIQYQGIMETVRILLYETCPRYLLGVLNAGKADLQRQGKMQLSYFLIVGLRSWTEFWAMECVVLEALASSSPDH*

Gene Symbol:	CD1B
Accession:	XM_017002784
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	85

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLLPFQLLAVLFPGGNSEHAFQGPTSFHVIQTSSFTNSTWAQTQGSGWLDDLQIHGWDSDSGTAIFLKPWSKGNFSDKE VAELKEIFRVYIFGFAREVQDFAGDFQMKYPFEIQGIAGCELHSGGAIVSFLRGALGGLDFLSVKNASCVPSPEGGSRAQ KFCALIIQYQGIMETVRILLYETCPRYLLGVLNAGKADLQRQGHRVTKGAGESPRASWCQGNEQWKQDPSWVSGHKETKA LPDLGSHLLLQKKLYSYMEFYSAMKRNGY*

Gene Symbol:	CD1B
Accession:	XM_017002786
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	85

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLLPFQLLAVLFPGGNSEHAFQGPTSFHVIQTSSFTNSTWAQTQGSGWLDDLQIHGWDSDSGTAIFLKPWSKGNFSDKE VAELKEIFRVYIFGFAREVQDFAGDFQMKYPFEIQGIAGCELHSGGAIVSFLRGALGGLDFLSVKNASCVPSPEGGSRAQ KFCALIIQYQGIMETVRILLYETCPRYLLGVLNAGKADLQRQGHIRISHEPSSCLLSHSQ*

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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