RGD:10044587 Rat Genome Database

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Variant: RGD:10044587 -  Homo sapiens

RGD ID: 10044587
RS ID: rs786205783
ClinVar ID: CV188475
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNB2  LOC107984213  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 18,550,236
GRCh38 10 18,261,307
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016195.1:g.125631G>C
NC_000010.11:g.18261307G>C
NC_000010.10:g.18550236G>C
NP_000715.2:p.Arg13Pro
More...
08/01/2019 intron variant|missense variant likely benign|uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CACNB2
Accession:NM_000724
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQCCGLVHRRRVPVSYGSADSYTSRPSDSDVSLEEDREAVRREAERQAQAQLEKAKTKPVAFAVRTNVSYSAAHEDDVPV
PGMAISFEAKDFLHVKEKFNNDWWIGRLVKEGCEIGFIPSPVKLENMRLQHEQRAKQGKFYSSKSGGNSSSSLGDIVPSS
RKSTPPSSAIDIDATGLDAEENDIPANHRSPKPSANSVTSPHSKEKRMPFFKKTEHTPPYDVVPSMRPVVLVGPSLKGYE
VTDMMQKALFDFLKHRFEGRISITRVTADISLAKRSVLNNPSKHAIIERSNTRSSLAEVQSEIERIFELARTLQLVVLDA
DTINHPAQLSKTSLAPIIVYVKISSPKVLQRLIKSRGKSQAKHLNVQMVAADKLAQCPPELFDVILDENQLEDACEHLAD
YLEAYWKATHPPSSSLPNPLLSRTLATSSLPLSPTLASNSQGSQGDQRTDRSAPIRSASQAEEEPSVEPVKKSQHRSSSS
APHHNHRSGTSRGLSRQETFDSETQESRDSAYVEPKEDYSHDHVDHYASHRDHNHRDETHGSSDHRHRESRHRSRDVDRE
QDHNECNKQRSRHKSKDRYCEKDGEVISKKRNEAGEWNRDVYIRQ*

Gene Symbol:CACNB2
Accession:NM_001330060
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQCCGLVHRRRVPVSYGSADSYTSRPSDSDVSLEEDREAVRREAERQAQAQLEKAKTKPVAFAVRTNVSYSAAHEDDVPV
PGMAISFEAKDFLHVKEKFNNDWWIGRLVKEGCEIGFIPSPVKLENMRLQHEQRAKQGKFYSSKSGGNSSSSLGDIVPSS
RKSTPPSSAKQKQKSTEHTPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFEGRISITRVTADISLAKRSVL
NNPSKHAIIERSNTRSSLAEVQSEIERIFELARTLQLVVLDADTINHPAQLSKTSLAPIIVYVKISSPKVLQRLIKSRGK
SQAKHLNVQMVAADKLAQCPPELFDVILDENQLEDACEHLADYLEAYWKATHPPSSSLPNPLLSRTLATSSLPLSPTLAS
NSQGSQGDQRTDRSAPIRSASQAEEEPSVEPVKKSQHRSSSSAPHHNHRSGTSRGLSRQETFDSETQESRDSAYVEPKED
YSHDHVDHYASHRDHNHRDETHGSSDHRHRESRHRSRDVDREQDHNECNKQRSRHKSKDRYCEKDGEVISKKRNEAGEWN
RDVYIRQ*

Gene Symbol:LOC107984213
Accession:XR_001747681
Location:EXON;NON-CODING

Gene Symbol:CACNB2
Accession:NM_201596
Location:INTRON

Gene Symbol:CACNB2
Accession:NM_201593
Location:INTRON

Gene Symbol:CACNB2
Accession:NM_201597
Location:INTRON

Gene Symbol:CACNB2
Accession:NM_201571
Location:INTRON

Gene Symbol:CACNB2
Accession:NM_001167945
Location:INTRON

Gene Symbol:CACNB2
Accession:NM_201572
Location:INTRON

Gene Symbol:CACNB2
Accession:NM_201590
Location:INTRON

Gene Symbol:CACNB2
Accession:NM_201570
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:CACNB2
Accession:XM_005252591
Location:INTRON

Gene Symbol:CACNB2
Accession:XM_006717502
Location:INTRON

Gene Symbol:CACNB2
Accession:XM_011519659
Location:INTRON

Gene Symbol:CACNB2
Accession:XM_047425725
Location:INTRON

Gene Symbol:CACNB2
Accession:NM_001410882
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000170854 CLINVAR
dbSNP (RS) rs786205783 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CACNB2 CLINVAR
OMIM 600003 CLINVAR