RGD:126747781 Rat Genome Database

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Variant: RGD:126747781 -  Homo sapiens

RGD ID: 126747781
RS ID: rs1654199670
ClinVar ID: CV1022874
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADIPOR1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 202,913,017
GRCh38 1 202,943,889
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001277482.1:p.Tyr225Phe
NP_001277486.1:p.Tyr225Phe
NM_001290553.2:c.674A>T
NM_001290557.1:c.674A>T
More... 		01/03/2020 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ADIPOR1
Accession:XM_047421959
Location:EXON
Amino Acid Prediction: Y to F (nonsynonymous)
Amino Acid Position: 225
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSHKGSVVAQGNGAPASNREADTVELAELGPLLEEKGKRVIANPPKAEEEQTCPVPQEEEEEVRVLTLPLQAHHAMEKM
EEFVYKVWEGRWRVIPYDVLPDWLKDNDYLLHGHRPPMPSFRACFKSIFRIHTETGNIWTHLLGFVLFLFLGILTMLRPN
MYFMAPLQEKVVFGMFFLGAVLCLSFSWLFHTVYCHSEKVSRTFSKLDYSGIALLIMGSFVPWLFYSFYCSPQPRLIYLS
IVCVLGISAIIVAQWDRFATPKHRQTRAGVFLGLGLSGVVPTMHFTIAEGFVKATTVGQMGWFFLMAVMYITGAGLYAAR
IPERFFPGKFDIWFQSHQIFHVLVVAAAFVHFYGVSNLQEFRYGLEGGCTDDTLL*

Gene Symbol:ADIPOR1
Accession:NM_001290553
Location:EXON
Amino Acid Prediction: Y to F (nonsynonymous)
Amino Acid Position: 225
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSHKGSVVAQGNGAPASNREADTVELAELGPLLEEKGKRVIANPPKAEEEQTCPVPQEEEEEVRVLTLPLQAHHAMEKM
EEFVYKVWEGRWRVIPYDVLPDWLKDNDYLLHGHRPPMPSFRACFKSIFRIHTETGNIWTHLLGFVLFLFLGILTMLRPN
MYFMAPLQEKVVFGMFFLGAVLCLSFSWLFHTVYCHSEKVSRTFSKLDYSGIALLIMGSFVPWLFYSFYCSPQPRLIYLS
IVCVLGISAIIVAQWDRFATPKHRQTRAGVFLGLGLSGVVPTMHFTIAEGFVKATTVGQMGWFFLMAVMYITGAGLYAAR
IPERFFPGKFDIWFQSHQIFHVLVVAAAFVHFYGVSNLQEFRYGLEGGCTDDTLL*

Gene Symbol:ADIPOR1
Accession:NM_015999
Location:EXON
Amino Acid Prediction: Y to F (nonsynonymous)
Amino Acid Position: 225
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSHKGSVVAQGNGAPASNREADTVELAELGPLLEEKGKRVIANPPKAEEEQTCPVPQEEEEEVRVLTLPLQAHHAMEKM
EEFVYKVWEGRWRVIPYDVLPDWLKDNDYLLHGHRPPMPSFRACFKSIFRIHTETGNIWTHLLGFVLFLFLGILTMLRPN
MYFMAPLQEKVVFGMFFLGAVLCLSFSWLFHTVYCHSEKVSRTFSKLDYSGIALLIMGSFVPWLFYSFYCSPQPRLIYLS
IVCVLGISAIIVAQWDRFATPKHRQTRAGVFLGLGLSGVVPTMHFTIAEGFVKATTVGQMGWFFLMAVMYITGAGLYAAR
IPERFFPGKFDIWFQSHQIFHVLVVAAAFVHFYGVSNLQEFRYGLEGGCTDDTLL*

Gene Symbol:ADIPOR1
Accession:NM_001290557
Location:EXON
Amino Acid Prediction: Y to F (nonsynonymous)
Amino Acid Position: 225
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSHKGSVVAQGNGAPASNREADTVELAELGPLLEEKGKRVIANPPKAEEEQTCPVPQEEEEEVRVLTLPLQAHHAMEKM
EEFVYKVWEGRWRVIPYDVLPDWLKDNDYLLHGHRPPMPSFRACFKSIFRIHTETGNIWTHLLGFVLFLFLGILTMLRPN
MYFMAPLQEKVVFGMFFLGAVLCLSFSWLFHTVYCHSEKVSRTFSKLDYSGIALLIMGSFVPWLFYSFYCSPQPRLIYLS
IVCVLGISAIIVAQWDRFATPKHRQTRAGVFLGLGLSGVVPTMHFTIAEGFVKATTVGQMGWFFLMAVMYITGAGLYAAR
IPERFFPGKFDIWFQSHQIFHVLVVAAAFVHFYGVSNLQEFRYGLEGGCTDDTLL*

Gene Symbol:ADIPOR1
Accession:NM_001290629
Location:EXON
Amino Acid Prediction: Y to F (nonsynonymous)
Amino Acid Position: 225
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSHKGSVVAQGNGAPASNREADTVELAELGPLLEEKGKRVIANPPKAEEEQTCPVPQEEEEEVRVLTLPLQAHHAMEKM
EEFVYKVWEGRWRVIPYDVLPDWLKDNDYLLHGHRPPMPSFRACFKSIFRIHTETGNIWTHLLGFVLFLFLGILTMLRPN
MYFMAPLQEKVVFGMFFLGAVLCLSFSWLFHTVYCHSEKVSRTFSKLDYSGIALLIMGSFVPWLFYSFYCSPQPRLIYLS
IVCVLGISAIIVAQWDRFATPKHRQTRAGVFLGLGLSGVVPTMHFTIAEGFVKATTVGQMGWFFLMAVMYITGAGLYAAR
IPERFFPGKFDIWFQSHQIFHVLVVAAAFVHFYGVSNLQEFRYGLEGGCTDDTLL*

Gene Symbol:ADIPOR1
Accession:XM_024447427
Location:EXON
Amino Acid Prediction: Y to F (nonsynonymous)
Amino Acid Position: 70
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRPNMYFMAPLQEKVVFGMFFLGAVLCLSFSWLFHTVYCHSEKVSRTFSKLDYSGIALLIMGSFVPWLFYSFYCSPQPR
LIYLSIVCVLGISAIIVAQWDRFATPKHRQTRAGVFLGLGLSGVVPTMHFTIAEGFVKATTVGQMGWFFLMAVMYITGAG
LYAARIPERFFPGKFDIWFQSHQIFHVLVVAAAFVHFYGVSNLQEFRYGLEGGCTDDTLL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001337533 CLINVAR
dbSNP (RS) rs1654199670 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ADIPOR1 CLINVAR
OMIM 607945 CLINVAR