RGD:156142877 Rat Genome Database

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Variant: RGD:156142877 -  Homo sapiens

RGD ID: 156142877
ClinVar ID: CV2383806
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARHGEF34P  ARHGEF35-AS1  OR2A1-AS1  OR2A7  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 143,956,339
GRCh38 7 144,259,246
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.383C>A
NC_000007.14:g.144259246G>T
NC_000007.13:g.143956339G>T
NR_033942.1:n.3954C>A
More... 		05/09/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:OR2A7
Accession:NM_001005328
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 128
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDNITSITEFLLLGFPVGPRIQMLLFGLFSLFYVFTLLGNGTILGLISLDSRLHAPMYFFLSHLAVVDIAYACNTVPRM
LVNLLHPAKPISFAGRMMQTFLFSTFAVTECLLLVVMSYDLYVAICHLLRYLAIMTWRVCITLAVTSWTTGVLLSLIHLV
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 RCV004231676 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ARHGEF35-AS1 CLINVAR
  OR2A1-AS1 CLINVAR
  OR2A7 CLINVAR