RGD:156272862 Rat Genome Database

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Variant: RGD:156272862 -  Homo sapiens

RGD ID: 156272862
ClinVar ID: CV2277608
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ENPP3  LOC127407261  OR2A4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 132,021,989
GRCh38 6 131,700,849
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+7225T>C
NM_030908.2:c.553A>G
NG_109232.1:g.449T>C
NG_033982.1:g.68548T>C
More... 		06/24/2022 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:OR2A4
Accession:NM_030908
Location:EXON
Amino Acid Prediction: K to Q (nonsynonymous)
Amino Acid Position: 185
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDNITSIREFLLLGFPVGPRIQMLLFGLFSLFYVFTLLGNGTILGLISLDSRLHAPMYFFLSHLAVVDIAYACNTVPRM
LVNLLHPAKPISFAGRMMQTFLFSTFAVTECLLLVVMSYDLYVAICHPLRYLAIMTWRVCITLAVTSWTTGVLLSLIHLV
LLLPLPFCRPQKIYHFFCEILAVLQLACADTHINENMVLAGAISGLVGPLSTIVVSYMCILCAILQIQSREVQRKAFRTC
FSHLCVIGLVYGTAIIMYVGPRYGNPKEQKKYLLLFHSLFNPMLNPLICSLRNSEVKNTLKRVLGVERAL*

Gene Symbol:ENPP3
Accession:XM_011535897
Location:INTRON

Gene Symbol:ENPP3
Accession:NM_005021
Location:INTRON

Gene Symbol:ENPP3
Accession:XM_017010932
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004147077 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ENPP3 CLINVAR
  OR2A4 CLINVAR
OMIM 602182 CLINVAR