RGD:405768633 Rat Genome Database

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Variant: RGD:405768633 -  Homo sapiens

RGD ID: 405768633
ClinVar ID: CV3363356
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ENPP3  LOC127407261  OR2A4  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 132,021,643
GRCh38 6 131,700,503
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005021.5:c.1412+6879A>G
NM_030908.2:c.899T>C
NG_109232.1:g.103A>G
NG_033982.1:g.68202A>G
More... 		12/28/2022 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:OR2A4
Accession:NM_030908
Location:EXON
Amino Acid Prediction: L to W (nonsynonymous)
Amino Acid Position: 300
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDNITSIREFLLLGFPVGPRIQMLLFGLFSLFYVFTLLGNGTILGLISLDSRLHAPMYFFLSHLAVVDIAYACNTVPRM
LVNLLHPAKPISFAGRMMQTFLFSTFAVTECLLLVVMSYDLYVAICHPLRYLAIMTWRVCITLAVTSWTTGVLLSLIHLV
LLLPLPFCRPQKIYHFFCEILAVLKLACADTHINENMVLAGAISGLVGPLSTIVVSYMCILCAILQIQSREVQRKAFRTC
FSHLCVIGLVYGTAIIMYVGPRYGNPKEQKKYLLLFHSLFNPMLNPLICSLRNSEVKNTWKRVLGVERAL*

Gene Symbol:ENPP3
Accession:XM_017010932
Location:INTRON

Gene Symbol:ENPP3
Accession:XM_011535897
Location:INTRON

Gene Symbol:ENPP3
Accession:NM_005021
Location:INTRON

Gene Symbol:ENPP3
Accession:NR_133007
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004501880 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ENPP3 CLINVAR
  OR2A4 CLINVAR
OMIM 602182 CLINVAR