RGD:401780249 Rat Genome Database

RGD ID:

401780249

ClinVar ID:

CV2725953

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	13	76,135,001
GRCh38	13	75,560,865

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_006002.5:c.167T>A NM_001270952.2:c.59T>A NC_000013.11:g.75560865T>A NC_000013.10:g.76135001T>A More...	05/30/2023	missense variant	uncertain significance

Disease Annotations Click to see Annotation Detail View

Variant Details

Variant Transcripts

Gene Symbol:	UCHL3
Accession:	NM_006002
Location:	EXON
Amino Acid Prediction:	F to Y (nonsynonymous)
Amino Acid Position:	56

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEGQRWLPLEANPEVTNQFLKQLGLHPNWQFVDVYGMDPELLSMVPRPVCAVLLLYPITEKYEVFRTEEEEKIKSQGQDV TSSVYFMKQTISNACGTIGLIHAIANNKDKMHFESGSTLKKFLEESVSMSPEERARYLENYDAIRVTHETSAHEGQTEAP SIDEKVDLHFIALVHVDGHLYELDGRKPFPINHGETSDETLLEDAIEVCKKFMERDPDELRFNAIALSAA*

Gene Symbol:	UCHL3
Accession:	NM_001270952
Location:	EXON
Amino Acid Prediction:	F to Y (nonsynonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDPELLSMVPRPVCAVLLLYPITEKYEVFRTEEEEKIKSQGQDVTSSVYFMKQTISNACGTIGLIHAIANNKDKMHFESG STLKKFLEESVSMSPEERARYLENYDAIRVTHETSAHEGQTEAPSIDEKVDLHFIALVHVDGHLYELDGRKPFPINHGET SDETLLEDAIEVCKKFMERDPDELRFNAIALSAA*

Gene Symbol:	UCHL3
Accession:	XM_011535214
Location:	EXON
Amino Acid Prediction:	F to Y (nonsynonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDPELLSMVPRPVCAVLLLYPITEKYEVFRTEEEEKIKSQGQDVTSSVYFMKQTISNACGTIGLIHAIANNKDKMHFESG STLKKFLEESVSMSPEERARYLENYDAIRVTHETSAHEGQTESSSPSSSQPHSSHCRTKASSLCHHASLPWVKRNHVGPA KATSPSLRLRRWRPFLRLPSLGLHSVAPSIDEKVDLHFIALVHVDGHLYELDGRKPFPINHGETSDETLLEDAIEVCKKF MERDPDELRFNAIALSAA*

Gene Symbol:	UCHL3
Accession:	XM_011535212
Location:	EXON
Amino Acid Prediction:	F to Y (nonsynonymous)
Amino Acid Position:	56

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEGQRWLPLEANPEVTNQFLKQLGLHPNWQFVDVYGMDPELLSMVPRPVCAVLLLYPITEKYEVFRTEEEEKIKSQGQDV TSSVYFMKQTISNACGTIGLIHAIANNKDKMHFESGSTLKKFLEESVSMSPEERARYLENYDAIRVTHETSAHEGQTESS SPSSSQPHSSHCRTKASSLCHHASLPWVKRNHVGPAKATSPSLRLRRWRPFLRLPSLGLHSVAPSIDEKVDLHFIALVHV DGHLYELDGRKPFPINHGETSDETLLEDAIEVCKKFMERDPDELRFNAIALSAA*

Gene Symbol:	UCHL3
Accession:	XM_011535213
Location:	EXON
Amino Acid Prediction:	F to Y (nonsynonymous)
Amino Acid Position:	52

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEGQRWLPLEANPEFLKQLGLHPNWQFVDVYGMDPELLSMVPRPVCAVLLLYPITEKYEVFRTEEEEKIKSQGQDVTSSV YFMKQTISNACGTIGLIHAIANNKDKMHFESGSTLKKFLEESVSMSPEERARYLENYDAIRVTHETSAHEGQTESSSPSS SQPHSSHCRTKASSLCHHASLPWVKRNHVGPAKATSPSLRLRRWRPFLRLPSLGLHSVAPSIDEKVDLHFIALVHVDGHL YELDGRKPFPINHGETSDETLLEDAIEVCKKFMERDPDELRFNAIALSAA*

Gene Symbol:	UCHL3
Accession:	XM_017020725
Location:	EXON
Amino Acid Prediction:	F to Y (nonsynonymous)
Amino Acid Position:	56

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEGQRWLPLEANPEVTNQFLKQLGLHPNWQFVDVYGMDPELLSMVPRPVCAVLLLYPITEKYEVFRTEEEEKIKSQGQDV TSSVYFMKQTISNACGTIGLIHAIANNKDKMHFESGSTLKKFLEESVSMSPEERARYLENYDAIRVTHETSAHEGQTESS SPSSSQPHSSHCRTKASSLCHHASLPWVKRNHVGPAKATSPSLRLRRWRPFLRLPSLGLHSVAPSIDEKVDLHFIALVHV DGHLYELGNFHSHPNLQQPPS*

Gene Symbol:	UCHL3
Accession:	XM_017020726
Location:	EXON
Amino Acid Prediction:	F to Y (nonsynonymous)
Amino Acid Position:	56

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEGQRWLPLEANPEVTNQFLKQLGLHPNWQFVDVYGMDPELLSMVPRPVCAVLLLYPITEKYEVFRTEEEEKIKSQGQDV TSSVYFMKQTISNACGTIGLIHAIANNKDKMHFESGSTLKKFLEESVSMSPEERARYLENYDAIRVTHETSAHEGQTESS SPSSSQPHSSHCRTKASSLCHHASLPWVKRNHVGPAKATSPSLRLRRWRPFLRLPSLGLHSVAPSIDEKVDLHFIALVHV DGHLYELDLLEF*

Gene Symbol:	UCHL3
Accession:	XM_017020727
Location:	EXON
Amino Acid Prediction:	F to Y (nonsynonymous)
Amino Acid Position:	52

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEGQRWLPLEANPEFLKQLGLHPNWQFVDVYGMDPELLSMVPRPVCAVLLLYPITEKYEVFRTEEEEKIKSQGQDVTSSV YFMKQTISNACGTIGLIHAIANNKDKMHFESGSTLKKFLEESVSMSPEERARYLENYDAIRVTHETSAHEGQTEAPSIDE KVDLHFIALVHVDGHLYELDGRKPFPINHGETSDETLLEDAIEVCKKFMERDPDELRFNAIALSAA*

Gene Symbol:	UCHL3
Accession:	XM_047430582
Location:	EXON
Amino Acid Prediction:	F to Y (nonsynonymous)
Amino Acid Position:	56

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEGQRWLPLEANPEVTNQFLKQLGLHPNWQFVDVYGMDPELLSMVPRPVCAVLLLYPITEKYEVFRTEEEEKIKSQGQDV TSSVYFMKQTISNACGTIGLIHAIANNKDKMHFESGSTLKKFLEESVSMSPEERARYLENYDAIRVTHETSAHEGQTEAP SIDEKVDLHFIALVHVDGHLYELGNFHSHPNLQQPPS*

Gene Symbol:	UCHL3
Accession:	XM_047430583
Location:	EXON
Amino Acid Prediction:	F to Y (nonsynonymous)
Amino Acid Position:	56

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEGQRWLPLEANPEVTNQFLKQLGLHPNWQFVDVYGMDPELLSMVPRPVCAVLLLYPITEKYEVFRTEEEEKIKSQGQDV TSSVYFMKQTISNACGTIGLIHAIANNKDKMHFESGSTLKKFLEESVSMSPEERARYLENYDAIRVTHETSAHEGQTEAP SIDEKVDLHFIALVHVDGHLYELDLLEF*

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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