RGD:15179461 Rat Genome Database

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Variant: RGD:15179461 -  Homo sapiens

RGD ID: 15179461
RS ID: rs147523243
ClinVar ID: CV764327
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAB33B  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 140,375,445
GRCh38 4 139,454,291
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_031296.2:c.96C>G
NP_112586.1:p.Arg32=
NM_031296.3:c.96C>G
NG_051587.1:g.6060C>G
More... 		06/18/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:RAB33B
Accession:XM_011532299
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHPQRQAEETCLLSGATKRYVDAGTDPTPEPSAPSLPLLSSLGRVGGMAEEMESSLEASFSSSGAVSGASGFLPPARSR
IFKIIVIGDSNVGKTCLTYRFCAGRFPDRTEATIGVDFRERAVEIDGERIKIQLWDTAGQERFRKSMVQHYYRNVHAVVF
VYDMTNMASFHSLPSWIEECKQHLLANDIPRILVGNKCDLRSAIQVPTDLAQKFADTHSMPLFETSAKNPNDNDHVEAIF
MTLAHKLKSHKPLMLSQPPDNGIILKPEPKPAMTCWC*

Gene Symbol:RAB33B
Accession:NM_031296
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEEMESSLEASFSSSGAVSGASGFLPPARSRIFKIIVIGDSNVGKTCLTYRFCAGRFPDRTEATIGVDFRERAVEIDGE
RIKIQLWDTAGQERFRKSMVQHYYRNVHAVVFVYDMTNMASFHSLPSWIEECKQHLLANDIPRILVGNKCDLRSAIQVPT
DLAQKFADTHSMPLFETSAKNPNDNDHVEAIFMTLAHKLKSHKPLMLSQPPDNGIILKPEPKPAMTCWC*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000929646 CLINVAR
dbSNP (RS) rs147523243 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene RAB33B CLINVAR
OMIM 605950 CLINVAR