RGD:152040353 Rat Genome Database

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Variant: RGD:152040353 -  Homo sapiens

RGD ID: 152040353
RS ID: rs754727126
ClinVar ID: CV1561631
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APOA5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 116,661,516
GRCh38 11 116,790,800
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001166598.2:c.429C>T
NM_001371904.1:c.429C>T
NM_052968.5:c.429C>T
NG_015894.2:g.6621C>T
More...
05/05/2021 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:APOA5
Accession:NM_001166598
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 143
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASMAAVLTWALALLSAFSATQARKGFWDYFSQTSGDKGRVEQIHQQKMAREPATLKDSLEQDLNNMNKFLEKLRPLSGS
EAPRLPQDPVGMRRQLQEELEEVKARLQPYMAEAHELVGWNLEGLRQQLKPYTMDLMEQVALRVQELQEQLRVVGEDTKA
QLLGGVDEAWALLQGLQSRVVHHTGRFKELFHPYAESLVSGIGRHVQELHRSVAPHAPASPARLSRCVQVLSRKLTLKAK
ALHARIQQNLDQLREELSRAFAGTGTEEGAGPDPQMLSEEVRQRLQAFRQDTYLQIAAFTRAIDQETEEVQQQLAPPPPG
HSAFAPEFQQTDSGKVLSKLQARLDDLWEDITHSLHDQGHSHLGDP*

Gene Symbol:APOA5
Accession:NM_001371904
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 143
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASMAAVLTWALALLSAFSATQARKGFWDYFSQTSGDKGRVEQIHQQKMAREPATLKDSLEQDLNNMNKFLEKLRPLSGS
EAPRLPQDPVGMRRQLQEELEEVKARLQPYMAEAHELVGWNLEGLRQQLKPYTMDLMEQVALRVQELQEQLRVVGEDTKA
QLLGGVDEAWALLQGLQSRVVHHTGRFKELFHPYAESLVSGIGRHVQELHRSVAPHAPASPARLSRCVQVLSRKLTLKAK
ALHARIQQNLDQLREELSRAFAGTGTEEGAGPDPQMLSEEVRQRLQAFRQDTYLQIAAFTRAIDQETEEVQQQLAPPPPG
HSAFAPEFQQTDSGKVLSKLQARLDDLWEDITHSLHDQGHSHLGDP*

Gene Symbol:APOA5
Accession:NM_052968
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 143
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 RCV002188166 CLINVAR
  RCV002331692 CLINVAR
dbSNP (RS) rs754727126 CLINVAR
MedGen C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene APOA5 CLINVAR
OMIM 606368 CLINVAR