RGD:401867070 Rat Genome Database

RGD ID:

401867070

ClinVar ID:

CV2780099

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	3	57,314,368
GRCh38	3	57,280,340

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001142733.3:c.849C>G NC_000003.12:g.57280340G>C NC_000003.11:g.57314368G>C NM_001142733.2:c.849C>G NP_001136205.2:p.His283Gln More...	07/11/2023	missense variant	uncertain significance	AllHighlyPenetrant

Variant Details

Variant Transcripts

Gene Symbol:	ASB14
Accession:	XM_017005737
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	283

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDNYTSDEDIDEDFDTQLIIQQSLQDIYKPGTAQHAPKDESLHSFLSADYKKIVETIEKGKEDALSHLTKYHSAFGEADE IGWIPLHKAAVQLNRKILEITLSASDPSLWEQTTHNGETPLFLAVSSCLLENATFLLLNGCNPNAKNFEGNSPLLAAVLR DCYDMAALLINYGADVNLRCANERTALHEAAKLGREDMVKLMLVSGAHPDPQSTYGFTPLALAAQSGHTEIMEMLLRKGA NAHGQASDSSSILLEAASGGNPDAVALLLEYGADANIPKNSGQLPIHVAADRGHLLALKILIPVTDLAAIKQSGISPVHC AAAGAHPQCLELLIQAGFDVNFMLDQRINKHYDDHRKSALYFAVSNSDLSSVKLLLSAGALPNQDPVNCLQIALRMGNYE LISLLLRHGANVNYFCRVNPLHFPSALQYTLKDEVMLRMLLNYGYDTERCFDCPHGDKVHPSYTVEGWTSTVIKDTKFCE VITLSWLQHLSGKVVRVMLDYVDQVRICSKLKAVLQKQGIWSEIHFILTNPRSLKHLCRLKIRKCMGRLHLRCPVFMSFL PLPNRLKAYVLYKEYDLYGQGIFTGTW*

Gene Symbol:	ASB14
Accession:	NM_001142733
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	283

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDNYTSDEDIDEDFDTQLIIQQSLQDIYKPGTAQHAPKDESLHSFLSADYKKIVETIEKGKEDALSHLTKYHSAFGEADE IGWIPLHKAAVQLNRKILEITLSASDPSLWEQTTHNGETPLFLAVSSCLLENATFLLLNGCNPNAKNFEGNSPLLAAVLR DCYDMAALLINYGADVNLRCANERTALHEAAKLGREDMVKLMLVSGAHPDPQSTYGFTPLALAAQSGHTEIMEMLLRKGA NAHGQASDSSSILLEAASGGNPDAVALLLEYGADANIPKNSGQLPIHVAADRGHLLALKILIPVTDLAAIKQSGISPVHC AAAGAHPQCLELLIQAGFDVNFMLDQRINKHYDDHRKSALYFAVSNSDLSSVKLLLSAGALPNQDPVNCLQIALRMGNYE LISLLLRHGANVNYFCRVNPLHFPSALQYTLKDEVMLRMLLNYGYDTERCFDCPHGDKVHPSYTVEGWTSTVIKDTKFCE VITLSWLQHLSGKVVRVMLDYVDQVRICSKLKAVLQKQGIWSEIHFILTNPRSLKHLCRLKIRKCMGRLHLRCPVFMSFL PLPNRLKAYVLYKEYDLYGQGIFTGTW*

Gene Symbol:	ASB14
Accession:	XM_017005736
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	283

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDNYTSDEDIDEDFDTQLIIQQSLQDIYKPGTAQHAPKDESLHSFLSADYKKIVETIEKGKEDALSHLTKYHSAFGEADE IGWIPLHKAAVQLNRKILEITLSASDPSLWEQTTHNGETPLFLAVSSCLLENATFLLLNGCNPNAKNFEGNSPLLAAVLR DCYDMAALLINYGADVNLRCANERTALHEAAKLGREDMVKLMLVSGAHPDPQSTYGFTPLALAAQSGHTEIMEMLLRKGA NAHGQASDSSSILLEAASGGNPDAVALLLEYGADANIPKNSGQLPIHVAADRGHLLALKILIPVTDLAAIKQSGISPVHC AAAGAHPQCLELLIQAGFDVNFMLDQRINKHYDDHRKSALYFAVSNSDLSSVKLLLSAGALPNQDPVNCLQIALRMGNYE LISLLLRHGANVNYFCRVNPLHFPSALQYTLKDEVMLRMLLNYGYDTERCFDCPHGDKVHPSYTVEGWTSTVIKDTKFCE VITLSWLQHLSGKVVRVMLDYVDQVRICSKLKAVLQKQGIWSEIHFILTNPRSLKHLCRLKIRKCMGRLHLRCPVFMSFL PLPNRLKAYVLYKEYDLYGQGIFTGTW*

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)

Send us a Message