RGD:15116149 Rat Genome Database

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Variant: RGD:15116149 -  Homo sapiens

RGD ID: 15116149
RS ID: rs138306315
ClinVar ID: CV757097
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLAUR  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 44,159,662
GRCh38 19 43,655,510
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001005377.3:c.472+969A>G
NM_001301037.2:c.536A>G
NM_002659.4:c.536A>G
NG_032898.1:g.19837A>G
More... 		04/20/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PLAUR
Accession:NM_002659
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHPPLLPLLLLLHTCVPASWGLRCMQCKTNGDCRVEECALGQDLCRTTIVRLWEEGEELELVEKSCTHSEKTNRTLSYR
TGLKITSLTEVVCGLDLCNQGNSGRAVTYSRSRYLECISCGSSDMSCERGRHQSLQCRSPEEQCLDVVTHWIQEGEEGRP
KDDRHLRGCGYLPGCPGSSGFHNNDTFHFLKCCNTTKCNEGPILELENLPQNGRQCYSCKGNSTHGCSSEETFLIDCRGP
MNQCLVATGTHEPKNQSYMVRGCATASMCQHAHLGDAFSMNHIDVSCCTKSGCNHPDLDVQYRSGAAPQPGPAHLSLTIT
LLMTARLWGGTLLWT*

Gene Symbol:PLAUR
Accession:XM_047438930
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 174
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDTNLNGRGLETWSSWGLRCMQCKTNGDCRVEECALGQDLCRTTIVRLWEEGEELELVEKSCTHSEKTNRTLSYRTGLKI
TSLTEVVCGLDLCNQGNSGRAVTYSRSRYLECISCGSSDMSCERGRHQSLQCRSPEEQCLDVVTHWIQEGEEGRPKDDRH
LRGCGYLPGCPGSSGFHNNDTFHFLKCCNTTKCNEGPKPKNQSYMVRGCATASMCQHAHLGDAFSMNHIDVSCCTKSGCN
HPDLDVQYRSGAAPQPGPAHLSLTITLLMTARLWGGTLLWT*

Gene Symbol:PLAUR
Accession:NM_001301037
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHPPLLPLLLLLHTCVPASWGLRCMQCKTNGDCRVEECALGQDLCRTTIVRLWEEGEELELVEKSCTHSEKTNRTLSYR
TGLKITSLTEVVCGLDLCNQGNSGRAVTYSRSRYLECISCGSSDMSCERGRHQSLQCRSPEEQCLDVVTHWIQEGEEGRP
KDDRHLRGCGYLPGCPGSSGFHNNDTFHFLKCCNTTKCNEGPKPKNQSYMVRGCATASMCQHAHLGDAFSMNHIDVSCCT
KSGCNHPDLDVQYRSGAAPQPGPAHLSLTITLLMTARLWGGTLLWT*

Gene Symbol:PLAUR
Accession:XM_047438932
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHPPLLPLLLLLHTCVPASWGLRCMQCKTNGDCRVEECALGQDLCRTTIVRLWEEGEELELVEKSCTHSEKTNRTLSYR
TGLKITSLTEVVCGLDLCNQGNSGRAVTYSRSRYLECISCGSSDMSCERGRHQSLQCRSPEEQCLDVVTHWIQEGEEGRP
KDDRHLRGCGYLPGCPGSSGFHNNDTFHFLKCCNTTKCNEGPSKERETQSWSLKICRRMAASVTAARGTAPMDAPLKRLS
SLTAEAP*

Gene Symbol:PLAUR
Accession:XM_047438928
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHPPLLPLLLLLHTCVPASWGLRCMQCKTNGDCRVEECALGQDLCRTTIVRLWEEGEELELVEKSCTHSEKTNRTLSYR
TGLKITSLTEVVCGLDLCNQGNSGRAVTYSRSRYLECISCGSSDMSCERGRHQSLQCRSPEEQCLDVVTHWIQEGEEGRP
KDDRHLRGCGYLPGCPGSSGFHNNDTFHFLKCCNTTKCNEGPKPKNQSYMVRGCATASMCQHAHLGDAFSMNHIDVSCCT
KSGCNHPDLDVQYRSGAAPQPGPAHLSLTITLLMTARLWGGTLLWT*

Gene Symbol:PLAUR
Accession:XM_047438925
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHPPLLPLLLLLHTCVPASWGLRCMQCKTNGDCRVEECALGQDLCRTTIVRLWEEGEELELVEKSCTHSEKTNRTLSYR
TGLKITSLTEVVCGLDLCNQGNSGRAVTYSRSRYLECISCGSSDMSCERGRHQSLQCRSPEEQCLDVVTHWIQEGEEGRP
KDDRHLRGCGYLPGCPGSSGFHNNDTFHFLKCCNTTKCNEGPILELENLPQNGRQCYSCKGNSTHGCSSEETFLIDCRGP
MNQCLVATGTHEPKNQSYMVRGCATASMCQHAHLGDAFSMNHIDVSCCTKSGCNHPDLDVQYRSGAAPQPGPAHLSLTIT
LLMTARLWGGTLLWT*

Gene Symbol:PLAUR
Accession:XM_047438927
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHPPLLPLLLLLHTCVPASWGLRCMQCKTNGDCRVEECALGQDLCRTTIVRLWEGRAVTYSRSRYLECISCGSSDMSCE
RGRHQSLQCRSPEEQCLDVVTHWIQEGEEGRPKDDRHLRGCGYLPGCPGSSGFHNNDTFHFLKCCNTTKCNEGPILELEN
LPQNGRQCYSCKGNSTHGCSSEETFLIDCRGPMNQCLVATGTHEPKNQSYMVRGCATASMCQHAHLGDAFSMNHIDVSCC
TKSGCNHPDLDVQYRSGAAPQPGPAHLSLTITLLMTARLWGGTLLWT*

Gene Symbol:PLAUR
Accession:NM_001005376
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHPPLLPLLLLLHTCVPASWGLRCMQCKTNGDCRVEECALGQDLCRTTIVRLWEEGEELELVEKSCTHSEKTNRTLSYR
TGLKITSLTEVVCGLDLCNQGNSGRAVTYSRSRYLECISCGSSDMSCERGRHQSLQCRSPEEQCLDVVTHWIQEGEEGRP
KDDRHLRGCGYLPGCPGSSGFHNNDTFHFLKCCNTTKCNEGPILELENLPQNGRQCYSCKGNSTHGCSSEETFLIDCRGP
MNQCLVATGTHERSLWGSWLPCKSTTALRPPCCEEAQATHV*

Gene Symbol:PLAUR
Accession:XM_047438931
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 174
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDTNLNGRGLETWSSWGLRCMQCKTNGDCRVEECALGQDLCRTTIVRLWEEGEELELVEKSCTHSEKTNRTLSYRTGLKI
TSLTEVVCGLDLCNQGNSGRAVTYSRSRYLECISCGSSDMSCERGRHQSLQCRSPEEQCLDVVTHWIQEGEEGRPKDDRH
LRGCGYLPGCPGSSGFHNNDTFHFLKCCNTTKCNEGPILELENLPQNGRQCYSCKGNSTHGCSSEETFLIDCRGPMNQCL
VATGTHERSLWGSWLPCKSTTALRPPCCEEAQATHV*

Gene Symbol:PLAUR
Accession:XM_017026872
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 174
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDTNLNGRGLETWSSWGLRCMQCKTNGDCRVEECALGQDLCRTTIVRLWEEGEELELVEKSCTHSEKTNRTLSYRTGLKI
TSLTEVVCGLDLCNQGNSGRAVTYSRSRYLECISCGSSDMSCERGRHQSLQCRSPEEQCLDVVTHWIQEGEEGRPKDDRH
LRGCGYLPGCPGSSGFHNNDTFHFLKCCNTTKCNEGPILELENLPQNGRQCYSCKGNSTHGCSSEETFLIDCRGPMNQCL
VATGTHEPKNQSYMVRGCATASMCQHAHLGDAFSMNHIDVSCCTKSGCNHPDLDVQYRSGAAPQPGPAHLSLTITLLMTA
RLWGGTLLWT*

Gene Symbol:PLAUR
Accession:XM_047438936
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHPPLLPLLLLLHTCVPASWGLRCMQCKTNGDCRVEECALGQDLCRTTIVRLWEGRAVTYSRSRYLECISCGSSDMSCE
RGRHQSLQCRSPEEQCLDVVTHWIQEGEEGRPKDDRHLRGCGYLPGCPGSSGFHNNDTFHFLKCCNTTKCNEGPILELEN
LPQNGRQCYSCKGNSTHGCSSEETFLIDCRGPMNQCLVATGTHERSLWGSWLPCKSTTALRPPCCEEAQATHV*

Gene Symbol:PLAUR
Accession:XM_047438926
Location:INTRON

Gene Symbol:PLAUR
Accession:XM_047438937
Location:INTRON

Gene Symbol:PLAUR
Accession:XM_047438933
Location:INTRON

Gene Symbol:PLAUR
Accession:NM_001005377
Location:INTRON

Gene Symbol:PLAUR
Accession:XM_047438934
Location:INTRON

Gene Symbol:PLAUR
Accession:XM_047438935
Location:INTRON

Gene Symbol:PLAUR
Accession:XM_047438929
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000917573 CLINVAR
dbSNP (RS) rs138306315 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PLAUR CLINVAR
OMIM 173391 CLINVAR