RGD:329349623 Rat Genome Database

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Variant: RGD:329349623 -  Homo sapiens

RGD ID: 329349623
ClinVar ID: CV2450178
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OR51B5  OR51I1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 5,462,494
GRCh38 11 5,441,264
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001005567.3:c.-360+64305T>G
NM_001005288.3:c.251T>G
NC_000011.10:g.5441264A>C
NC_000011.9:g.5462494A>C
More...
01/18/2023 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:OR51B5
Accession:NM_001005567
Location:5UTRS;INTRON

Gene Symbol:OR51I1
Accession:NM_001005288
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGLNGTPFQPATLQLTGIPGIQTGLTWVALIFCILYMISIVGNLSILTLVFWEPALHQPMYYFLSMLALNDLGVSFSTL
PTVTSTFCFNYNHVAFNACLVQMFFIHTFSFMESGILLAMSLDRFVAICYPLRYVTVLTHNRILAMGLGILTKSFTTLFP
FPFVVKRLPFCKGNVLHHSYCLHPDLMKVACGDIHVNNIYGLLVIIFTYGMDSTFILLSYALILRAMLVIISQEQRLKAL
NTCMSHICAVLAFYVPIIAVSMIHRFWKSAPPVVHVMMSNVYLFVPPMLNPIIYSVKTKEIRKGILKFFHKSQA*

Gene Symbol:OR51B5
Accession:NM_001395252
Location:INTRON

Gene Symbol:OR51B5
Accession:NR_038321
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004270996 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene OR51B5 CLINVAR
  OR51I1 CLINVAR