RGD:156257335 Rat Genome Database

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Variant: RGD:156257335 -  Homo sapiens

RGD ID: 156257335
ClinVar ID: CV2397862
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OR2T8  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 248,085,036
GRCh38 1 247,921,734
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.247921734C>G
NP_001005522.1:p.Cys239Trp
NC_000001.10:g.248085036C>G
NM_001005522.1:c.717C>G
More... 		10/12/2021 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:OR2T8
Accession:NM_001005522
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 239
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENGSYTSYFILLGLFNHTRAHQVLFMMVLSIVLTSLFGNSLMILLIHWDHRLHTPMYFLLSQLSLMDVMLVSTTVPKMA
ADYLTGSKAISRAGCGAQIFFLPTLGGGECFLLAAMAYDRYAAVCHPLRYPTLMSWQLCLRMNLSCWLLGAADGLLQAVA
TLSFPYCGAHEIDHFFCETPVLVRLACADTSVFENAMYICCVLMLLVPFSLILSSYGLILAAVLHMRSTEARKKAFATWS
SHVAVVGLFYGAAIFTYMRPKSHRSTNHDKVVSAFYTMFTPLLNPLIYSVKNSEVKGALTRCMGRCVALSRE*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002769234 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene OR2T8 CLINVAR