RGD:401732102 Rat Genome Database

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Variant: RGD:401732102 -  Homo sapiens

RGD ID: 401732102
ClinVar ID: CV2712300
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARHGEF34P  ARHGEF35-AS1  OR2A1-AS1  OR2A7  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 143,956,268
GRCh38 7 144,259,175
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_033942.1:n.4025G>A
NM_001005328.1:c.454G>A
NC_000007.13:g.143956268C>T
NC_000007.14:g.144259175C>T
More...
04/25/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:OR2A7
Accession:NM_001005328
Location:EXON
Amino Acid Prediction: V to F (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDNITSITEFLLLGFPVGPRIQMLLFGLFSLFYVFTLLGNGTILGLISLDSRLHAPMYFFLSHLAVVDIAYACNTVPRM
LVNLLHPAKPISFAGRMMQTFLFSTFAVTECLLLVVMSYDLYVAICHPLRYLAIMTWRVCITLAVTSWTTGFLLSLIHLV
LLLPLPFCRPQKIYHFFCEILAVLKLACADTHINENMVLAGAISGLVGPLSTIVVSYMCILCAILQIQSREVQRKAFCTC
FSHLCVIGLFYGTAIIMYVGPRYGNPKEQKKYLLLFHSLFNPMLNPLICSLRNSEVKNTLKRVLGVERAL*

Gene Symbol:ARHGEF34P
Accession:NR_033942
Location:EXON;NON-CODING

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004313794 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ARHGEF35-AS1 CLINVAR
  OR2A1-AS1 CLINVAR
  OR2A7 CLINVAR