RGD:126753723 Rat Genome Database

RGD ID:

126753723

RS ID:

rs540682144

ClinVar ID:

CV996911

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	16	3,586,206
GRCh38	16	3,536,206

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_015041.3:c.1177C>G NM_001330454.2:c.1234C>G NM_024793.3:c.679C>G NG_047131.1:g.40262C>G More...	10/08/2020	missense variant	uncertain significance	none provided

Variant Details

Variant Transcripts

Gene Symbol:	CLUAP1
Accession:	NM_015041
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	393

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSFRDLRNFTEMMRALGYPRHISMENFRTPNFGLVSEVLLWLVKRYEPQTDIPPDVDTEQDRVFFIKAIAQFMATKAHIK LNTKKLYQADGYAVKELLKITSVLYNAMKTKGMEGSEIVEEDVNKFKFDLGSKIADLKAARQLASEITSKGASLYDLLGM EVELREMRTEAIARPLEINETEKVMRIAIKEILTQVQKTKDLLNNVASDEANLEAKIEKRKLELERNRKRLETLQSVRPC FMDEYEKTEEELQKQYDTYLEKFQNLTYLEQQLEDHHRMEQERFEEAKNTLCLIQNKLKEEEKRLLKSGSNDDSDIDIQE DDESDSELEERRLPKPQTAMEMLMQGRPGKRIVGTMQGGDSDDNEDSEESEIDMEDDDDEDDDLEDESISLSATKPNRRV RKSEPLDESDNDF*

Gene Symbol:	CLUAP1
Accession:	XM_047433799
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	401

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMRALGYPRHISMENFRTPNFGLVSEVLLWLVKRYEPQTDIPPDVDTEQDRVFFIKAIAQFMATKAHIKLNTKKLYQADG YAVKELLKITSVLYNAMKTKGMEGSEIVEEDVNKFKFDLGSKIADLKAARQLASEITSKGASLYDLLGMEVELREMRTEA IARPLEINETEKVMRIAIKEILTQVQKTKDLLNNVASDEANLEAKIEKRKLELERNRKRLETLQSVRPCFMDEYEKTEEE LQKQYDTYLEKFQNLTYLEQQLEDHHRMEQERFEEAKNTLCLIQNKLKEEEKRLLKSGSNDDSDIDIQEDDESDSELEER RLPKPQTAMEMLMQGRPGKRIVGTMQGGDSDDNMEAAPALLGKCKTSSSKKQEDSEESEIDMEDDDDEDDDLEDESISLS ATKPNRRVRKSEPLDESDNDF*

Gene Symbol:	CLUAP1
Accession:	XM_017023073
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	340

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATKAHIKLNTKKLYQADGYAVKELLKITSVLYNAMKTKGMEGSEIVEEDVNKFKFDLGSKIADLKAARQLASEITSKGA SLYDLLGMEVELREMRTEAIARPLEINETEKVMRIAIKEILTQVQKTKDLLNNVASDEANLEAKIEKRKLELERNRKRLE TLQSVRPCFMDEYEKTEEELQKQYDTYLEKFQNLTYLEQQLEDHHRMEQERFEEAKNTLCLIQNKLKEEEKRLLKSGSND DSDIDIQEDDESDSELEERRLPKPQTAMEMLMQGRPGKRIVGTMQGGDSDDNMEAAPALLGKCKTSSSKKQEDSEESEID MEDDDDEDDDLEDESISLSATKPNRRVRKSEPLDESDNDF*

Gene Symbol:	CLUAP1
Accession:	XM_047433798
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	420

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGRGQNPGGSPWSLWLGSGHIKQTALANWRVLLSDFTEMMRALGYPRHISMENFRTPNFGLVSEVLLWLVKRYEPQTDIP PDVDTEQDRVFFIKAIAQFMATKAHIKLNTKKLYQADGYAVKELLKITSVLYNAMKTKGMEGSEIVEEDVNKFKFDLGSK IADLKAARQLASEITSKGASLYDLLGMEVELREMRTEAIARPLEINETEKVMRIAIKEILTQVQKTKDLLNNVASDEANL EAKIEKRKLELERNRKRLETLQSVRPCFMDEYEKTEEELQKQYDTYLEKFQNLTYLEQQLEDHHRMEQERFEEAKNTLCL IQNKLKEEEKRLLKSGSNDDSDIDIQEDDESDSELEERRLPKPQTAMEMLMQGRPGKRIVGTMQGGDSDDNEDSEESEID MEDDDDEDDDLEDESISLSATKPNRRVRKSEPLDESDNDF*

Gene Symbol:	CLUAP1
Accession:	NM_001330454
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	412

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSFRDLRNFTEMMRALGYPRHISMENFRTPNFGLVSEVLLWLVKRYEPQTDIPPDVDTEQDRVFFIKAIAQFMATKAHIK LNTKKLYQADGYAVKELLKITSVLYNAMKTKGMEGSEIVEEDVNKFKFDLGSKIADLKAARQLASEITSKGASLYDLLGM EVELREMRTEAIARPLEINETEKVMRIAIKEILTQVQKTKDLLNNVASDEANLEAKIEKRKLELERNRKRLETLQSVRPC FMDEYEKTEEELQKQYDTYLEKFQNLTYLEQQLEDHHRMEQERFEEAKNTLCLIQNKLKEEEKRLLKSGSNDDSDIDIQE DDESDSELEERRLPKPQTAMEMLMQGRPGKRIVGTMQGGDSDDNMEAAPALLGKCKTSSSKKQEDSEESEIDMEDDDDED DDLEDESISLSATKPNRRVRKSEPLDESDNDF*

Gene Symbol:	CLUAP1
Accession:	NM_024793
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	227

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRTEAIARPLEINETEKVMRIAIKEILTQVQKTKDLLNNVASDEANLEAKIEKRKLELERNRKRLETLQSVRPCFMDEYE KTEEELQKQYDTYLEKFQNLTYLEQQLEDHHRMEQERFEEAKNTLCLIQNKLKEEEKRLLKSGSNDDSDIDIQEDDESDS ELEERRLPKPQTAMEMLMQGRPGKRIVGTMQGGDSDDNEDSEESEIDMEDDDDEDDDLEDESISLSATKPNRRVRKSEPL DESDNDF*

Gene Symbol:	CLUAP1
Accession:	XM_047433797
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	439

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGRGQNPGGSPWSLWLGSGHIKQTALANWRVLLSDFTEMMRALGYPRHISMENFRTPNFGLVSEVLLWLVKRYEPQTDIP PDVDTEQDRVFFIKAIAQFMATKAHIKLNTKKLYQADGYAVKELLKITSVLYNAMKTKGMEGSEIVEEDVNKFKFDLGSK IADLKAARQLASEITSKGASLYDLLGMEVELREMRTEAIARPLEINETEKVMRIAIKEILTQVQKTKDLLNNVASDEANL EAKIEKRKLELERNRKRLETLQSVRPCFMDEYEKTEEELQKQYDTYLEKFQNLTYLEQQLEDHHRMEQERFEEAKNTLCL IQNKLKEEEKRLLKSGSNDDSDIDIQEDDESDSELEERRLPKPQTAMEMLMQGRPGKRIVGTMQGGDSDDNMEAAPALLG KCKTSSSKKQEDSEESEIDMEDDDDEDDDLEDESISLSATKPNRRVRKSEPLDESDNDF*

Variant Samples

Additional References at PubMed

PMID:28492532

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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