RGD:156059713 Rat Genome Database

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Variant: RGD:156059713 -  Homo sapiens

RGD ID: 156059713
ClinVar ID: CV2323037
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OR52B6  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 5,602,804
GRCh38 11 5,581,574
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001005162.2:c.698T>C
NC_000011.10:g.5581574T>C
NC_000011.9:g.5602804T>C
NP_001005162.2:p.Ile233Thr
 12/28/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:OR52B6
Accession:NM_001005162
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 233
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQVRALHKIMALFSANSIGAMNNSDTRIAGCFLTGIPGLEQLHIWLSIPFCIMYITALEGNGILICVILSQAILHEPMY
IFLSMLASADVLLSTTTMPKALANLWLGYSLISFDGCLTQMFFIHFLFIHSAVLLAMAFDRYVAICSPLRYVTILTSKVI
GKIVTAALSHSFIIMFPSIFLLEHLHYCQINIIAHTFCEHMGIAHLSCSDISINVWYGLAAALLSTGLDIMLTTVSYIHI
LQAVFRLLSQDARSKALSTCGSHICVILLFYVPALFSVFAYRFGGRSVPCYVHILLASLYVVIPPMLNPVIYGVRTKPIL
EGAKQMFSNLAKGSK*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004185461 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene OR52B6 CLINVAR