RGD:15197046 Rat Genome Database

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Variant: RGD:15197046 -  Homo sapiens

RGD ID: 15197046
RS ID: rs142945525
ClinVar ID: CV719493
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CAVIN2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 192,700,736
GRCh38 2 191,836,010
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004657.6:c.1191T>C
NC_000002.12:g.191836010A>G
NC_000002.11:g.192700736A>G
NM_004657.5:c.1191T>C
More...
06/04/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CAVIN2
Accession:NM_004657
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 397
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGEDAAQAEKFQHPGSDMRQEKPSSPSPMPSSTPSPSLNLGNTEEAIRDNSQVNAVTVLTLLDKLVNMLDAVQENQHKME
QRQISLEGSVKGIQNDLTKLSKYQASTSNTVSKLLEKSRKVSAHTRAVKERMDRQCAQVKRLENNHAQLLRRNHFKVLIF
QEENEIPASVFVKQPVSGAVEGKEELPDENKSLEETLHTVDLSSDDDLPHDEEALEDSAEEKVEESRAEKIKRSSLKKVD
SLKKAFSRQNIEKKMNKLGTKIVSVERREKIKKSLTSNHQKISSGKSSPFKVSPLTFGRKKVREGESHAENETKSEDLPS
SEQMPNDQEEESFAEGHSEASLASALVEGEIAEEAAEKATSRGSNSGMDSNIDLTIVEDEEEESVALEQAQKVRYEGSYA
LTSEEAERSDGDPVQPAVLQVHQTS*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000889944 CLINVAR
dbSNP (RS) rs142945525 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CAVIN2 CLINVAR
OMIM 606728 CLINVAR