RGD:329397470 Rat Genome Database

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Variant: RGD:329397470 -  Homo sapiens

RGD ID: 329397470
ClinVar ID: CV2466228
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTAR1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 72,338,312
GRCh38 9 69,723,396
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001366935.1:c.640G>A
NM_001366938.1:c.640G>A
NM_001366939.1:c.643-4712G>A
NM_001366940.1:c.643-4712G>A
More... 		02/27/2023 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PTAR1
Accession:XM_047423354
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 221
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYPAASKPRLYHCMEREHCSSICKMRKNQQRRLLGRKELILSGTLNPIKDLHLGKLALTKFPKSPETWIHRRWVLQQLIQ
ETSLPSFVTKGNLGTIPTERAQRLIQEEMEVCGEAAGRYPSNYNAWSHRIWVLQHLAKLDVKILLDELSSTKHWASMHVS
DHSGFHYRQFLLKSLISQTVIDSSVMEQNPLRSEPALVPPKDEEAAVSTEEPRINLPHLLKEEVEFSTDLIDSYPGHETL
WCHRRHIFYLQHHLNGRFPHSMTQLSPADSPGGTLSDLHLIPAGSQLSQAMEVDGLNDSSKQGYSQETKRLKRTPVPDSL
GLEMEHRFIDQVLSTCRNVEQARFASAYRKWLVTLSQ*

Gene Symbol:PTAR1
Accession:NM_001366938
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 214
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAETSEEVAVLVQRVVKDITNAFRRNPHMKELILSGTLNPIKDLHLGKLALTKFPKSPETWIHRRWVLQQLIQETSLPSF
VTKGNLGTIPTERAQRLIQEEMEVCGEAAGRYPSNYNAWSHRIWVLQHLAKLDVKILLDELSSTKHWASMHVSDHSGFHY
RQFLLKSLISQTVIDSSVMEQNPLRSEPALVPPKDEEAAVSTEEPRINLPHLLKEEVEFSTDLIDSYPGHETLWCHRRHI
FYLQHHLNGSQLSQAMEVDGLNDSSKQGYSQETKRLKRTPVPDSLGLEMEHRFIDQVLSTCRNVEQARFASAYRKWLVTL
SQ*

Gene Symbol:PTAR1
Accession:NM_001366935
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 214
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAETSEEVAVLVQRVVKDITNAFRRNPHMKELILSGTLNPIKDLHLGKLALTKFPKSPETWIHRRWVLQQLIQETSLPSF
VTKGNLGTIPTERAQRLIQEEMEVCGEAAGRYPSNYNAWSHRIWVLQHLAKLDVKILLDELSSTKHWASMHVSDHSGFHY
RQFLLKSLISQTVIDSSVMEQNPLRSEPALVPPKDEEAAVSTEEPRINLPHLLKEEVEFSTDLIDSYPGHETLWCHRRHI
FYLQHHLNGRFPHSMTQLSPADSPGGTLSDLHLIPAGSQLSQAMEVDGLNDSSKQGYSQETKRLKRTPVPDSLGLEMEHR
FIDQVLSTCRNVEQARFASAYRKWLVTLSQ*

Gene Symbol:PTAR1
Accession:XM_011518639
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 255
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAETSEEVAVLVQRVVKDITNAFRRNPHIIDRCHMYPAASKPRLYHCMEREHCSSICKMRKNQQRRLLGRKELILSGTLN
PIKDLHLGKLALTKFPKSPETWIHRRWVLQQLIQETSLPSFVTKGNLGTIPTERAQRLIQEEMEVCGEAAGRYPSNYNAW
SHRIWVLQHLAKLDVKILLDELSSTKHWASMHVSDHSGFHYRQFLLKSLISQTVIDSSVMEQNPLRSEPALVPPKDEEAA
VSTEEPRINLPHLLKEEVEFSTDLIDSYPGHETLWCHRRHIFYLQHHLNGRFPHSMTQLSPADSPGGTLSDLHLIPAGSQ
LSQAMEVDGLNDSSKQGYSQETKRLKRTPVPDSLGLEMEHRFIDQVLSTCRNVEQARFASAYRKWLVTLSQ*

Gene Symbol:PTAR1
Accession:NM_001099666
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 293
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAETSEEVAVLVQRVVKDITNAFRRNPHIDEIGLIPCPEARYNRSPIVLVENKLGVESWCVKFLLPYVHNKLLLYRTRKQ
WLNRDELIDVTCTLLLLNPDFTTAWNVRKELILSGTLNPIKDLHLGKLALTKFPKSPETWIHRRWVLQQLIQETSLPSFV
TKGNLGTIPTERAQRLIQEEMEVCGEAAGRYPSNYNAWSHRIWVLQHLAKLDVKILLDELSSTKHWASMHVSDHSGFHYR
QFLLKSLISQTVIDSSVMEQNPLRSEPALVPPKDEEAAVSTEEPRINLPHLLKEEVEFSTDLIDSYPGHETLWCHRRHIF
YLQHHLNAGSQLSQAMEVDGLNDSSKQGYSQETKRLKRTPVPDSLGLEMEHRFIDQVLSTCRNVEQARFASAYRKWLVTL
SQ*

Gene Symbol:PTAR1
Accession:XM_047423353
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 255
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAETSEEVAVLVQRVVKDITNAFRRNPHIIDRCHMYPAASKPRLYHCMEREHCSSICKMRKNQQRRLLGRKELILSGTLN
PIKDLHLGKLALTKFPKSPETWIHRRWVLQQLIQETSLPSFVTKGNLGTIPTERAQRLIQEEMEVCGEAAGRYPSNYNAW
SHRIWVLQHLAKLDVKILLDELSSTKHWASMHVSDHSGFHYRQFLLKSLISQTVIDSSVMEQNPLRSEPALVPPKDEEAA
VSTEEPRINLPHLLKEEVEFSTDLIDSYPGHETLWCHRRHIFYLQHHLNAGSQLSQAMEVDGLNDSSKQGYSQETKRLKR
TPVPDSLGLEMEHRFIDQVLSTCRNVEQARFASAYRKWLVTLSQ*

Gene Symbol:PTAR1
Accession:NM_001366937
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 293
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAETSEEVAVLVQRVVKDITNAFRRNPHIDEIGLIPCPEARYNRSPIVLVENKLGVESWCVKFLLPYVHNKLLLYRTRKQ
WLNRDELIDVTCTLLLLNPDFTTAWNVRKELILSGTLNPIKDLHLGKLALTKFPKSPETWIHRRWVLQQLIQETSLPSFV
TKGNLGTIPTERAQRLIQEEMEVCGEAAGRYPSNYNAWSHRIWVLQHLAKLDVKILLDELSSTKHWASMHVSDHSGFHYR
QFLLKSLISQTVIDSSVMEQNPLRSEPALVPPKDEEAAVSTEEPRINLPHLLKEEVEFSTDLIDSYPGHETLWCHRRHIF
YLQHHLNGSQLSQAMEVDGLNDSSKQGYSQETKRLKRTPVPDSLGLEMEHRFIDQVLSTCRNVEQARFASAYRKWLVTLS
Q*

Gene Symbol:PTAR1
Accession:NM_001366936
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 293
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAETSEEVAVLVQRVVKDITNAFRRNPHIDEIGLIPCPEARYNRSPIVLVENKLGVESWCVKFLLPYVHNKLLLYRTRKQ
WLNRDELIDVTCTLLLLNPDFTTAWNVRKELILSGTLNPIKDLHLGKLALTKFPKSPETWIHRRWVLQQLIQETSLPSFV
TKGNLGTIPTERAQRLIQEEMEVCGEAAGRYPSNYNAWSHRIWVLQHLAKLDVKILLDELSSTKHWASMHVSDHSGFHYR
QFLLKSLISQTVIDSSVMEQNPLRSEPALVPPKDEEAAVSTEEPRINLPHLLKEEVEFSTDLIDSYPGHETLWCHRRHIF
YLQHHLNGRFPHSMTQLSPADSPGGTLSDLHLIPAGSQLSQAMEVDGLNDSSKQGYSQETKRLKRTPVPDSLGLEMEHRF
IDQVLSTCRNVEQARFASAYRKWLVTLSQ*

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

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

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

Gene Symbol:PTAR1
Accession:NM_001366940
Location:INTRON

Gene Symbol:PTAR1
Accession:NM_001366939
Location:INTRON

Gene Symbol:PTAR1
Accession:XM_047423355
Location:INTRON

Gene Symbol:PTAR1
Accession:XM_005251980
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004279863 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PTAR1 CLINVAR