RGD:12893279 Rat Genome Database

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Variant: RGD:12893279 -  Homo sapiens

RGD ID: 12893279
RS ID: rs147528707
ClinVar ID: CV408272
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APOA5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 116,661,008
GRCh38 11 116,790,292
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.937C>T
NG_015894.1:g.7129C>T
NC_000011.10:g.116790292G>A
NC_000011.9:g.116661008G>A
More... 		03/07/2017 nonsense likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:APOA5
Accession:NM_001371904
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 313
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASMAAVLTWALALLSAFSATQARKGFWDYFSQTSGDKGRVEQIHQQKMAREPATLKDSLEQDLNNMNKFLEKLRPLSGS
EAPRLPQDPVGMRRQLQEELEEVKARLQPYMAEAHELVGWNLEGLRQQLKPYTMDLMEQVALRVQELQEQLRVVGEDTKA
QLLGGVDEAWALLQGLQSRVVHHTGRFKELFHPYAESLVSGIGRHVQELHRSVAPHAPASPARLSRCVQVLSRKLTLKAK
ALHARIQQNLDQLREELSRAFAGTGTEEGAGPDPQMLSEEVRQRLQAFRQDTYLQIAAFTRAIDQETEEVQQ*LAPPPPG
HSAFAPEFQQTDSGKVLSKLQARLDDLWEDITHSLHDQGHSHLGDP*

Gene Symbol:APOA5
Accession:NM_052968
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 313
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASMAAVLTWALALLSAFSATQARKGFWDYFSQTSGDKGRVEQIHQQKMAREPATLKDSLEQDLNNMNKFLEKLRPLSGS
EAPRLPQDPVGMRRQLQEELEEVKARLQPYMAEAHELVGWNLEGLRQQLKPYTMDLMEQVALRVQELQEQLRVVGEDTKA
QLLGGVDEAWALLQGLQSRVVHHTGRFKELFHPYAESLVSGIGRHVQELHRSVAPHAPASPARLSRCVQVLSRKLTLKAK
ALHARIQQNLDQLREELSRAFAGTGTEEGAGPDPQMLSEEVRQRLQAFRQDTYLQIAAFTRAIDQETEEVQQ*LAPPPPG
HSAFAPEFQQTDSGKVLSKLQARLDDLWEDITHSLHDQGHSHLGDP*

Gene Symbol:APOA5
Accession:NM_001166598
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 313
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASMAAVLTWALALLSAFSATQARKGFWDYFSQTSGDKGRVEQIHQQKMAREPATLKDSLEQDLNNMNKFLEKLRPLSGS
EAPRLPQDPVGMRRQLQEELEEVKARLQPYMAEAHELVGWNLEGLRQQLKPYTMDLMEQVALRVQELQEQLRVVGEDTKA
QLLGGVDEAWALLQGLQSRVVHHTGRFKELFHPYAESLVSGIGRHVQELHRSVAPHAPASPARLSRCVQVLSRKLTLKAK
ALHARIQQNLDQLREELSRAFAGTGTEEGAGPDPQMLSEEVRQRLQAFRQDTYLQIAAFTRAIDQETEEVQQ*LAPPPPG
HSAFAPEFQQTDSGKVLSKLQARLDDLWEDITHSLHDQGHSHLGDP*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000478434 CLINVAR
dbSNP (RS) rs147528707 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene APOA5 CLINVAR
OMIM 606368 CLINVAR