RGD:151859419 Rat Genome Database

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Variant: RGD:151859419 -  Homo sapiens

RGD ID: 151859419
RS ID: rs1472499237
ClinVar ID: CV1389617
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CNGB3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 87,755,764
GRCh38 8 86,743,536
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.10:g.87755764G>A
NP_061971.3:p.Ser31Phe
NM_019098.5:c.92C>T
NG_016980.1:g.5140C>T
More... 		10/20/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CNGB3
Accession:NM_019098
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFKSLTKVNKVKPIGENNENEQSSRRNEEGFHPSNQSQQTTAQEENKGEEKSLKTKSTPVTSEEPHTNIQDKLSKKNSSG
DLTTNPDPQNAAEPTGTVPEQKEMDPGKEGPNSPQNKPPAAPVINEYADAQLHNLVKRMRQRTALYKKKLVEGDLSSPEA
SPQTAKPTAVPPVKESDDKPTEHYYRLLWFKVKKMPLTEYLKRIKLPNSIDSYTDRLYLLWLLLVTLAYNWNCCFIPLRL
VFPYQTADNIHYWLIADIICDIIYLYDMLFIQPRLQFVRGGDIIVDSNELRKHYRTSTKFQLDVASIIPFDICYLFFGFN
PMFRANRMLKYTSFFEFNHHLESIMDKAYIYRVIRTTGYLLFILHINACVYYWASNYEGIGTTRWVYDGEGNEYLRCYYW
AVRTLITIGGLPEPQTLFEIVFQLLNFFSGVFVFSSLIGQMRDVIGAATANQNYFRACMDDTIAYMNNYSIPKLVQKRVR
TWYEYTWDSQRMLDESDLLKTLPTTVQLALAIDVNFSIISKVDLFKGCDTQMIYDMLLRLKSVLYLPGDFVCKKGEIGKE
MYIIKHGEVQVLGGPDGTKVLVTLKAGSVFGEISLLAAGGGNRRTANVVAHGFANLLTLDKKTLQEILVHYPDSERILMK
KARVLLKQKAKTAEATPPRKDLALLFPPKEETPKLFKTLLGGTGKASLARLLKLKREQAAQKKENSEGGEEEGKENEDKQ
KENEDKQKENEDKGKENEDKDKGREPEEKPLDRPECTASPIAVEEEPHSVRRTVLPRGTSRQSLIISMAPSAEGGEEVLT
IEVKEKAKQ*

Gene Symbol:CNGB3
Accession:XM_011517138
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001905090 CLINVAR
dbSNP (RS) rs1472499237 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CNGB3 CLINVAR
OMIM 605080 CLINVAR