RGD:329364913 Rat Genome Database

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Variant: RGD:329364913 -  Homo sapiens

RGD ID: 329364913
ClinVar ID: CV2444034
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTAR1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 72,333,265
GRCh38 9 69,718,349
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001366940.1:c.*174G>A
NM_001366939.1:c.*297G>A
NM_001366935.1:c.1046G>A
NM_001366937.1:c.1199G>A
More... 		03/07/2023 3 prime utr variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PTAR1
Accession:NM_001366939
Location:3UTRS;EXON

Gene Symbol:PTAR1
Accession:NM_001366940
Location:3UTRS;EXON

Gene Symbol:PTAR1
Accession:XM_047423355
Location:3UTRS;EXON

Gene Symbol:PTAR1
Accession:XM_005251980
Location:3UTRS;EXON

Gene Symbol:PTAR1
Accession:NM_001366937
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 400
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAETSEEVAVLVQRVVKDITNAFRRNPHIDEIGLIPCPEARYNRSPIVLVENKLGVESWCVKFLLPYVHNKLLLYRTRKQ
WLNRDELIDVTCTLLLLNPDFTTAWNVRKELILSGTLNPIKDLHLGKLALTKFPKSPETWIHRRWVLQQLIQETSLPSFV
TKGNLGTIPTERAQRLIQEEMEVCGEAAGRYPSNYNAWSHRIWVLQHLAKLDVKILLDELSSTKHWASMHVSDHSGFHYR
QFLLKSLISQTVIDSSVMEQNPLRSEPALVPPKDEEAAVSTEEPRINLPHLLEEEVEFSTDLIDSYPGHETLWCHRRHIF
YLQHHLNGSQLSQAMEVDGLNDSSKQGYSQETKRLKRTPVPDSLGLEMEHRFIDQVLSTCRNVEQARFASAYRKWLVTLN
Q*

Gene Symbol:PTAR1
Accession:XM_047423353
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAETSEEVAVLVQRVVKDITNAFRRNPHIIDRCHMYPAASKPRLYHCMEREHCSSICKMRKNQQRRLLGRKELILSGTLN
PIKDLHLGKLALTKFPKSPETWIHRRWVLQQLIQETSLPSFVTKGNLGTIPTERAQRLIQEEMEVCGEAAGRYPSNYNAW
SHRIWVLQHLAKLDVKILLDELSSTKHWASMHVSDHSGFHYRQFLLKSLISQTVIDSSVMEQNPLRSEPALVPPKDEEAA
VSTEEPRINLPHLLEEEVEFSTDLIDSYPGHETLWCHRRHIFYLQHHLNAGSQLSQAMEVDGLNDSSKQGYSQETKRLKR
TPVPDSLGLEMEHRFIDQVLSTCRNVEQARFASAYRKWLVTLNQ*

Gene Symbol:PTAR1
Accession:XM_011518639
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 390
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAETSEEVAVLVQRVVKDITNAFRRNPHIIDRCHMYPAASKPRLYHCMEREHCSSICKMRKNQQRRLLGRKELILSGTLN
PIKDLHLGKLALTKFPKSPETWIHRRWVLQQLIQETSLPSFVTKGNLGTIPTERAQRLIQEEMEVCGEAAGRYPSNYNAW
SHRIWVLQHLAKLDVKILLDELSSTKHWASMHVSDHSGFHYRQFLLKSLISQTVIDSSVMEQNPLRSEPALVPPKDEEAA
VSTEEPRINLPHLLEEEVEFSTDLIDSYPGHETLWCHRRHIFYLQHHLNGRFPHSMTQLSPADSPGGTLSDLHLIPAGSQ
LSQAMEVDGLNDSSKQGYSQETKRLKRTPVPDSLGLEMEHRFIDQVLSTCRNVEQARFASAYRKWLVTLNQ*

Gene Symbol:PTAR1
Accession:NM_001366938
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 321
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAETSEEVAVLVQRVVKDITNAFRRNPHMKELILSGTLNPIKDLHLGKLALTKFPKSPETWIHRRWVLQQLIQETSLPSF
VTKGNLGTIPTERAQRLIQEEMEVCGEAAGRYPSNYNAWSHRIWVLQHLAKLDVKILLDELSSTKHWASMHVSDHSGFHY
RQFLLKSLISQTVIDSSVMEQNPLRSEPALVPPKDEEAAVSTEEPRINLPHLLEEEVEFSTDLIDSYPGHETLWCHRRHI
FYLQHHLNGSQLSQAMEVDGLNDSSKQGYSQETKRLKRTPVPDSLGLEMEHRFIDQVLSTCRNVEQARFASAYRKWLVTL
NQ*

Gene Symbol:PTAR1
Accession:NM_001366935
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 349
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAETSEEVAVLVQRVVKDITNAFRRNPHMKELILSGTLNPIKDLHLGKLALTKFPKSPETWIHRRWVLQQLIQETSLPSF
VTKGNLGTIPTERAQRLIQEEMEVCGEAAGRYPSNYNAWSHRIWVLQHLAKLDVKILLDELSSTKHWASMHVSDHSGFHY
RQFLLKSLISQTVIDSSVMEQNPLRSEPALVPPKDEEAAVSTEEPRINLPHLLEEEVEFSTDLIDSYPGHETLWCHRRHI
FYLQHHLNGRFPHSMTQLSPADSPGGTLSDLHLIPAGSQLSQAMEVDGLNDSSKQGYSQETKRLKRTPVPDSLGLEMEHR
FIDQVLSTCRNVEQARFASAYRKWLVTLNQ*

Gene Symbol:PTAR1
Accession:XM_047423354
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 356
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYPAASKPRLYHCMEREHCSSICKMRKNQQRRLLGRKELILSGTLNPIKDLHLGKLALTKFPKSPETWIHRRWVLQQLIQ
ETSLPSFVTKGNLGTIPTERAQRLIQEEMEVCGEAAGRYPSNYNAWSHRIWVLQHLAKLDVKILLDELSSTKHWASMHVS
DHSGFHYRQFLLKSLISQTVIDSSVMEQNPLRSEPALVPPKDEEAAVSTEEPRINLPHLLEEEVEFSTDLIDSYPGHETL
WCHRRHIFYLQHHLNGRFPHSMTQLSPADSPGGTLSDLHLIPAGSQLSQAMEVDGLNDSSKQGYSQETKRLKRTPVPDSL
GLEMEHRFIDQVLSTCRNVEQARFASAYRKWLVTLNQ*

Gene Symbol:PTAR1
Accession:NM_001099666
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 401
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAETSEEVAVLVQRVVKDITNAFRRNPHIDEIGLIPCPEARYNRSPIVLVENKLGVESWCVKFLLPYVHNKLLLYRTRKQ
WLNRDELIDVTCTLLLLNPDFTTAWNVRKELILSGTLNPIKDLHLGKLALTKFPKSPETWIHRRWVLQQLIQETSLPSFV
TKGNLGTIPTERAQRLIQEEMEVCGEAAGRYPSNYNAWSHRIWVLQHLAKLDVKILLDELSSTKHWASMHVSDHSGFHYR
QFLLKSLISQTVIDSSVMEQNPLRSEPALVPPKDEEAAVSTEEPRINLPHLLEEEVEFSTDLIDSYPGHETLWCHRRHIF
YLQHHLNAGSQLSQAMEVDGLNDSSKQGYSQETKRLKRTPVPDSLGLEMEHRFIDQVLSTCRNVEQARFASAYRKWLVTL
NQ*

Gene Symbol:PTAR1
Accession:NM_001366936
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 428
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAETSEEVAVLVQRVVKDITNAFRRNPHIDEIGLIPCPEARYNRSPIVLVENKLGVESWCVKFLLPYVHNKLLLYRTRKQ
WLNRDELIDVTCTLLLLNPDFTTAWNVRKELILSGTLNPIKDLHLGKLALTKFPKSPETWIHRRWVLQQLIQETSLPSFV
TKGNLGTIPTERAQRLIQEEMEVCGEAAGRYPSNYNAWSHRIWVLQHLAKLDVKILLDELSSTKHWASMHVSDHSGFHYR
QFLLKSLISQTVIDSSVMEQNPLRSEPALVPPKDEEAAVSTEEPRINLPHLLEEEVEFSTDLIDSYPGHETLWCHRRHIF
YLQHHLNGRFPHSMTQLSPADSPGGTLSDLHLIPAGSQLSQAMEVDGLNDSSKQGYSQETKRLKRTPVPDSLGLEMEHRF
IDQVLSTCRNVEQARFASAYRKWLVTLNQ*

Gene Symbol:PTAR1
Accession:NR_159515
Location:EXON;NON-CODING

Gene Symbol:PTAR1
Accession:NR_159517
Location:EXON;NON-CODING

Gene Symbol:PTAR1
Accession:NR_159516
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004258353 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PTAR1 CLINVAR