RGD:15176963 Rat Genome Database

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Variant: RGD:15176963 -  Homo sapiens

RGD ID: 15176963
RS ID: rs61735646
ClinVar ID: CV707915
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CAVIN2  CAVIN2-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 192,711,454
GRCh38 2 191,846,728
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.198G>A
NC_000002.12:g.191846728C>T
NC_000002.11:g.192711454C>T
NM_004657.5:c.198G>A
More...
06/21/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CAVIN2
Accession:NM_004657
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 66
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 RCV000973313 CLINVAR
dbSNP (RS) rs61735646 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CAVIN2 CLINVAR
  CAVIN2-AS1 CLINVAR
OMIM 606728 CLINVAR