RGD:401732036 Rat Genome Database

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Variant: RGD:401732036 -  Homo sapiens

RGD ID: 401732036
ClinVar ID: CV2690264
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARHGEF35-AS1  OR2A1-AS1  OR2A7  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 143,955,913
GRCh38 7 144,258,820
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001005328.2:c.809A>G
NC_000007.14:g.144258820T>C
NC_000007.13:g.143955913T>C
NM_001005328.1:c.809A>G
More... 		03/21/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:OR2A7
Accession:NM_001005328
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDNITSITEFLLLGFPVGPRIQMLLFGLFSLFYVFTLLGNGTILGLISLDSRLHAPMYFFLSHLAVVDIAYACNTVPRM
LVNLLHPAKPISFAGRMMQTFLFSTFAVTECLLLVVMSYDLYVAICHPLRYLAIMTWRVCITLAVTSWTTGVLLSLIHLV
LLLPLPFCRPQKIYHFFCEILAVLKLACADTHINENMVLAGAISGLVGPLSTIVVSYMCILCAILQIQSREVQRKAFCTC
FSHLCVIGLFYGTAIIMYVGPRYGNPKEQTKYLLLFHSLFNPMLNPLICSLRNSEVKNTLKRVLGVERAL*

Gene Symbol:OR2A1-AS1
Accession:NR_126023
Location:INTRON;NON-CODING

Gene Symbol:ARHGEF35-AS1
Accession:NR_126022
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004302267 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ARHGEF35-AS1 CLINVAR
  OR2A1-AS1 CLINVAR
  OR2A7 CLINVAR