RGD:15187049 Rat Genome Database

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Variant: RGD:15187049 -  Homo sapiens

RGD ID: 15187049
RS ID: rs143053936
ClinVar ID: CV772738
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLAUR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 44,159,670
GRCh38 19 43,655,518
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.10:g.43655518C>T
NC_000019.9:g.44159670C>T
NM_002659.3:c.528G>A
NP_001005376.1:p.Pro176=
More... 		06/23/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PLAUR
Accession:NM_001301037
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 176
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHPPLLPLLLLLHTCVPASWGLRCMQCKTNGDCRVEECALGQDLCRTTIVRLWEEGEELELVEKSCTHSEKTNRTLSYR
TGLKITSLTEVVCGLDLCNQGNSGRAVTYSRSRYLECISCGSSDMSCERGRHQSLQCRSPEEQCLDVVTHWIQEGEEGRP
KDDRHLRGCGYLPGCPGSNGFHNNDTFHFLKCCNTTKCNEGPKPKNQSYMVRGCATASMCQHAHLGDAFSMNHIDVSCCT
KSGCNHPDLDVQYRSGAAPQPGPAHLSLTITLLMTARLWGGTLLWT*

Gene Symbol:PLAUR
Accession:XM_047438925
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 176
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHPPLLPLLLLLHTCVPASWGLRCMQCKTNGDCRVEECALGQDLCRTTIVRLWEEGEELELVEKSCTHSEKTNRTLSYR
TGLKITSLTEVVCGLDLCNQGNSGRAVTYSRSRYLECISCGSSDMSCERGRHQSLQCRSPEEQCLDVVTHWIQEGEEGRP
KDDRHLRGCGYLPGCPGSNGFHNNDTFHFLKCCNTTKCNEGPILELENLPQNGRQCYSCKGNSTHGCSSEETFLIDCRGP
MNQCLVATGTHEPKNQSYMVRGCATASMCQHAHLGDAFSMNHIDVSCCTKSGCNHPDLDVQYRSGAAPQPGPAHLSLTIT
LLMTARLWGGTLLWT*

Gene Symbol:PLAUR
Accession:NM_002659
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 176
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHPPLLPLLLLLHTCVPASWGLRCMQCKTNGDCRVEECALGQDLCRTTIVRLWEEGEELELVEKSCTHSEKTNRTLSYR
TGLKITSLTEVVCGLDLCNQGNSGRAVTYSRSRYLECISCGSSDMSCERGRHQSLQCRSPEEQCLDVVTHWIQEGEEGRP
KDDRHLRGCGYLPGCPGSNGFHNNDTFHFLKCCNTTKCNEGPILELENLPQNGRQCYSCKGNSTHGCSSEETFLIDCRGP
MNQCLVATGTHEPKNQSYMVRGCATASMCQHAHLGDAFSMNHIDVSCCTKSGCNHPDLDVQYRSGAAPQPGPAHLSLTIT
LLMTARLWGGTLLWT*

Gene Symbol:PLAUR
Accession:XM_017026872
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDTNLNGRGLETWSSWGLRCMQCKTNGDCRVEECALGQDLCRTTIVRLWEEGEELELVEKSCTHSEKTNRTLSYRTGLKI
TSLTEVVCGLDLCNQGNSGRAVTYSRSRYLECISCGSSDMSCERGRHQSLQCRSPEEQCLDVVTHWIQEGEEGRPKDDRH
LRGCGYLPGCPGSNGFHNNDTFHFLKCCNTTKCNEGPILELENLPQNGRQCYSCKGNSTHGCSSEETFLIDCRGPMNQCL
VATGTHEPKNQSYMVRGCATASMCQHAHLGDAFSMNHIDVSCCTKSGCNHPDLDVQYRSGAAPQPGPAHLSLTITLLMTA
RLWGGTLLWT*

Gene Symbol:PLAUR
Accession:XM_047438931
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDTNLNGRGLETWSSWGLRCMQCKTNGDCRVEECALGQDLCRTTIVRLWEEGEELELVEKSCTHSEKTNRTLSYRTGLKI
TSLTEVVCGLDLCNQGNSGRAVTYSRSRYLECISCGSSDMSCERGRHQSLQCRSPEEQCLDVVTHWIQEGEEGRPKDDRH
LRGCGYLPGCPGSNGFHNNDTFHFLKCCNTTKCNEGPILELENLPQNGRQCYSCKGNSTHGCSSEETFLIDCRGPMNQCL
VATGTHERSLWGSWLPCKSTTALRPPCCEEAQATHV*

Gene Symbol:PLAUR
Accession:NM_001005376
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 176
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHPPLLPLLLLLHTCVPASWGLRCMQCKTNGDCRVEECALGQDLCRTTIVRLWEEGEELELVEKSCTHSEKTNRTLSYR
TGLKITSLTEVVCGLDLCNQGNSGRAVTYSRSRYLECISCGSSDMSCERGRHQSLQCRSPEEQCLDVVTHWIQEGEEGRP
KDDRHLRGCGYLPGCPGSNGFHNNDTFHFLKCCNTTKCNEGPILELENLPQNGRQCYSCKGNSTHGCSSEETFLIDCRGP
MNQCLVATGTHERSLWGSWLPCKSTTALRPPCCEEAQATHV*

Gene Symbol:PLAUR
Accession:XM_047438930
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDTNLNGRGLETWSSWGLRCMQCKTNGDCRVEECALGQDLCRTTIVRLWEEGEELELVEKSCTHSEKTNRTLSYRTGLKI
TSLTEVVCGLDLCNQGNSGRAVTYSRSRYLECISCGSSDMSCERGRHQSLQCRSPEEQCLDVVTHWIQEGEEGRPKDDRH
LRGCGYLPGCPGSNGFHNNDTFHFLKCCNTTKCNEGPKPKNQSYMVRGCATASMCQHAHLGDAFSMNHIDVSCCTKSGCN
HPDLDVQYRSGAAPQPGPAHLSLTITLLMTARLWGGTLLWT*

Gene Symbol:PLAUR
Accession:XM_047438928
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 176
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHPPLLPLLLLLHTCVPASWGLRCMQCKTNGDCRVEECALGQDLCRTTIVRLWEEGEELELVEKSCTHSEKTNRTLSYR
TGLKITSLTEVVCGLDLCNQGNSGRAVTYSRSRYLECISCGSSDMSCERGRHQSLQCRSPEEQCLDVVTHWIQEGEEGRP
KDDRHLRGCGYLPGCPGSNGFHNNDTFHFLKCCNTTKCNEGPKPKNQSYMVRGCATASMCQHAHLGDAFSMNHIDVSCCT
KSGCNHPDLDVQYRSGAAPQPGPAHLSLTITLLMTARLWGGTLLWT*

Gene Symbol:PLAUR
Accession:XM_047438932
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 176
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHPPLLPLLLLLHTCVPASWGLRCMQCKTNGDCRVEECALGQDLCRTTIVRLWEEGEELELVEKSCTHSEKTNRTLSYR
TGLKITSLTEVVCGLDLCNQGNSGRAVTYSRSRYLECISCGSSDMSCERGRHQSLQCRSPEEQCLDVVTHWIQEGEEGRP
KDDRHLRGCGYLPGCPGSNGFHNNDTFHFLKCCNTTKCNEGPSKERETQSWSLKICRRMAASVTAARGTAPMDAPLKRLS
SLTAEAP*

Gene Symbol:PLAUR
Accession:XM_047438927
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 128
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHPPLLPLLLLLHTCVPASWGLRCMQCKTNGDCRVEECALGQDLCRTTIVRLWEGRAVTYSRSRYLECISCGSSDMSCE
RGRHQSLQCRSPEEQCLDVVTHWIQEGEEGRPKDDRHLRGCGYLPGCPGSNGFHNNDTFHFLKCCNTTKCNEGPILELEN
LPQNGRQCYSCKGNSTHGCSSEETFLIDCRGPMNQCLVATGTHEPKNQSYMVRGCATASMCQHAHLGDAFSMNHIDVSCC
TKSGCNHPDLDVQYRSGAAPQPGPAHLSLTITLLMTARLWGGTLLWT*

Gene Symbol:PLAUR
Accession:XM_047438936
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 128
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHPPLLPLLLLLHTCVPASWGLRCMQCKTNGDCRVEECALGQDLCRTTIVRLWEGRAVTYSRSRYLECISCGSSDMSCE
RGRHQSLQCRSPEEQCLDVVTHWIQEGEEGRPKDDRHLRGCGYLPGCPGSNGFHNNDTFHFLKCCNTTKCNEGPILELEN
LPQNGRQCYSCKGNSTHGCSSEETFLIDCRGPMNQCLVATGTHERSLWGSWLPCKSTTALRPPCCEEAQATHV*

Gene Symbol:PLAUR
Accession:XM_047438934
Location:INTRON

Gene Symbol:PLAUR
Accession:XM_047438935
Location:INTRON

Gene Symbol:PLAUR
Accession:XM_047438929
Location:INTRON

Gene Symbol:PLAUR
Accession:XM_047438926
Location:INTRON

Gene Symbol:PLAUR
Accession:NM_001005377
Location:INTRON

Gene Symbol:PLAUR
Accession:XM_047438937
Location:INTRON

Gene Symbol:PLAUR
Accession:XM_047438933
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000931541 CLINVAR
dbSNP (RS) rs143053936 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PLAUR CLINVAR
OMIM 173391 CLINVAR