RGD:156357996 Rat Genome Database

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Variant: RGD:156357996 -  Homo sapiens

RGD ID: 156357996
ClinVar ID: CV2250804
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC107986822  PON2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 95,039,338
GRCh38 7 95,410,026
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001018161.2:c.534A>C
NM_000305.3:c.570A>C
NG_008725.1:g.30047A>C
NC_000007.14:g.95410026T>G
More... 		01/05/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PON2
Accession:NM_000305
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 190
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRLVAVGLLGIALALLGERLLALRNRLKASREVESVDLPHCHLIKGIEAGSEDIDILPNGLAFFSVGLKFPGLHSFAPD
KPGGILMMDLKEEKPRARELRISRGFDLASFNPHGISTFIDNDDTVYLFVVNHPEFKNTVEIFKFEEAENSLLHLKTVKH
ELLPSVNDITAVGPAHFYATNDHYFSDPFFKYLETYLNLHWANVVYYSPNEVKVVAEGFDSANGINISPDDKYIYVADIL
AHEIHVLEKHTNMNLTQLKVLELDTLVDNLSIDPSSGDIWVGCHPNGQKLFVYDPNNPPSSEVLRIQNILSEKPTVTTVY
ANNGSVLQGSSVASVYDGKLLIGTLYHRALYCEL*

Gene Symbol:PON2
Accession:XM_005250453
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVWLFLVCFAPDKPGGILMMDLKEEKPRARELRISRGFDLASFNPHGISTFIDNDDTVYLFVVNHPEFKNTVEIFKFEEA
ENSLLHLKTVKHELLPSVNDITAVGPAHFYATNDHYFSDPFFKYLETYLNLHWANVVYYSPNEVKVVAEGFDSANGINIS
PDDKYIYVADILAHEIHVLEKHTNMNLTQLKVLELDTLVDNLSIDPSSGDIWVGCHPNGQKLFVYDPNNPPSSEVLRIQN
ILSEKPTVTTVYANNGSVLQGSSVASVYDGKLLIGTLYHRALYCEL*

Gene Symbol:PON2
Accession:XM_017012357
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRAAEHFAPDKPGGILMMDLKEEKPRARELRISRGFDLASFNPHGISTFIDNDDTVYLFVVNHPEFKNTVEIFKFEEAEN
SLLHLKTVKHELLPSVNDITAVGPAHFYATNDHYFSDPFFKYLETYLNLHWANVVYYSPNEVKVVAEGFDSANGINISPD
DKYIYVADILAHEIHVLEKHTNMNLTQLKVLELDTLVDNLSIDPSSGDIWVGCHPNGQKLFVYDPNNPPSSEVLRIQNIL
SEKPTVTTVYANNGSVLQGSSVASVYDGKLLIGTLYHRALYCEL*

Gene Symbol:PON2
Accession:NM_001018161
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRLVAVGLLGIALALLGERLLALRNRLKASREVESVDLPHCHLIKGIEAGSEDIDILPNGLAFFSVGLKFPGLHSFAPD
KPGGILMMDLKEEKPRARELRISRGFDLASFNPHGISTFIDNEFKNTVEIFKFEEAENSLLHLKTVKHELLPSVNDITAV
GPAHFYATNDHYFSDPFFKYLETYLNLHWANVVYYSPNEVKVVAEGFDSANGINISPDDKYIYVADILAHEIHVLEKHTN
MNLTQLKVLELDTLVDNLSIDPSSGDIWVGCHPNGQKLFVYDPNNPPSSEVLRIQNILSEKPTVTTVYANNGSVLQGSSV
ASVYDGKLLIGTLYHRALYCEL*

Gene Symbol:LOC107986822
Accession:XR_001745283
Location:INTRON;NON-CODING

Gene Symbol:LOC107986822
Accession:XR_007060439
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002812386 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene PON2 CLINVAR
OMIM 602447 CLINVAR