rs12287066 Rat Genome Database

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Variant: rs12287066 -  Homo sapiens

RGD ID: 13520203
RS ID: rs12287066
ClinVar ID: CV487403
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APOA5  LOC108491825  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 116,662,331
GRCh38 11 116,791,615
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001160070.1:p.Ile44=
NC_000011.10:g.116791615G>T
NC_000011.9:g.116662331G>T
NP_443200.2:p.Ile44=
More... 		10/09/2018 synonymous variant benign none provided
GWAS Catalog Data
GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG SNP Passing QC Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GCST010173 Triglyceride levels 324,694 British ancestry individuals ? NR 3E-446 445.52287874528037 Affymetrix [5701386] (imputed) 0.2248 triglyceride measurement (EFO:0004530)
 PMID:32154731
GCST90140948 Total cholesterol levels 22,000 Pakistani and Bangladeshi ancestry individuals T 0.02 1E-9 9.0 Illumina [9527863] (imputed) 0.23 total cholesterol measurement (EFO:0004574)
 PMID:35945198

Variant Details
Variant Transcripts
Gene Symbol:APOA5
Accession:NM_001371904
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASMAAVLTWALALLSAFSATQARKGFWDYFSQTSGDKGRVEQIHQQKMAREPATLKDSLEQDLNNMNKFLEKLRPLSGS
EAPRLPQDPVGMRRQLQEELEEVKARLQPYMAEAHELVGWNLEGLRQQLKPYTMDLMEQVALRVQELQEQLRVVGEDTKA
QLLGGVDEAWALLQGLQSRVVHHTGRFKELFHPYAESLVSGIGRHVQELHRSVAPHAPASPARLSRCVQVLSRKLTLKAK
ALHARIQQNLDQLREELSRAFAGTGTEEGAGPDPQMLSEEVRQRLQAFRQDTYLQIAAFTRAIDQETEEVQQQLAPPPPG
HSAFAPEFQQTDSGKVLSKLQARLDDLWEDITHSLHDQGHSHLGDP*

Gene Symbol:APOA5
Accession:NM_052968
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASMAAVLTWALALLSAFSATQARKGFWDYFSQTSGDKGRVEQIHQQKMAREPATLKDSLEQDLNNMNKFLEKLRPLSGS
EAPRLPQDPVGMRRQLQEELEEVKARLQPYMAEAHELVGWNLEGLRQQLKPYTMDLMEQVALRVQELQEQLRVVGEDTKA
QLLGGVDEAWALLQGLQSRVVHHTGRFKELFHPYAESLVSGIGRHVQELHRSVAPHAPASPARLSRCVQVLSRKLTLKAK
ALHARIQQNLDQLREELSRAFAGTGTEEGAGPDPQMLSEEVRQRLQAFRQDTYLQIAAFTRAIDQETEEVQQQLAPPPPG
HSAFAPEFQQTDSGKVLSKLQARLDDLWEDITHSLHDQGHSHLGDP*

Gene Symbol:APOA5
Accession:NM_001166598
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASMAAVLTWALALLSAFSATQARKGFWDYFSQTSGDKGRVEQIHQQKMAREPATLKDSLEQDLNNMNKFLEKLRPLSGS
EAPRLPQDPVGMRRQLQEELEEVKARLQPYMAEAHELVGWNLEGLRQQLKPYTMDLMEQVALRVQELQEQLRVVGEDTKA
QLLGGVDEAWALLQGLQSRVVHHTGRFKELFHPYAESLVSGIGRHVQELHRSVAPHAPASPARLSRCVQVLSRKLTLKAK
ALHARIQQNLDQLREELSRAFAGTGTEEGAGPDPQMLSEEVRQRLQAFRQDTYLQIAAFTRAIDQETEEVQQQLAPPPPG
HSAFAPEFQQTDSGKVLSKLQARLDDLWEDITHSLHDQGHSHLGDP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000587343 CLINVAR
  RCV002384289 CLINVAR
dbSNP (RS) rs12287066 CLINVAR
GWAS Catalog GCST90140948 GWAS Catalog
MedGen C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene 108491825 CLINVAR
  APOA5 CLINVAR
OMIM 606368 CLINVAR