RGD:15154455 Rat Genome Database

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Variant: RGD:15154455 -  Homo sapiens

RGD ID: 15154455
RS ID: rs767439623
ClinVar ID: CV758077
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNG2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 37,098,517
GRCh38 22 36,702,472
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1159t1:c.105C>T
NM_006078.5:c.105C>T
NR_166440.1:n.1281C>T
LRG_1159p1:p.Tyr35=
More... 		04/06/2018 non-coding transcript variant|synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CACNG2
Accession:NM_006078
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLFDRGVQMLLTTVGAFAAFSLMTIAVGTDYWLYSRGVCKTKSVSENETSKKNEEVMTHSGLWRTCCLEGNFKGLCKQI
DHFPEDADYEADTAEYFLRAVRASSIFPILSVILLFMGGLCIAASEFYKTRHNIILSAGIFFVSAGLSNIIGIIVYISAN
AGDPSKSDSKKNSYSYGWSFYFGALSFIIAEMVGVLAVHMFIDRHKQLRATARATDYLQASAITRIPSYRYRYQRRSRSS
SRSTEPSHSRDASPVGIKGFNTLPSTEISMYTLSRDPLKAATTPTATYNSDRDNSFLQVHNCIQKENKDSLHSNTANRRT
TPV*

Gene Symbol:CACNG2
Accession:NM_001379051
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTIAVGTDYWLYSRGVCKTKSVSENETSKKNEEVMTHSGLWRTCCLEGNFKGLCKQIDHFPEDADYEADTAEYFLRAVRA
SSIFPILSVILLFMGGLCIAASEFYKTRHNIILSAGIFFVSAGLSNIIGIIVYISANAGDPSKSDSKKNSYSYGWSFYFG
ALSFIIAEMVGVLAVHMFIDRHKQLRATARATDYLQASAITRIPSYRYRYQRRSRSSSRSTEPSHSRDASPVGIKGFNTL
PSTEISMYTLSRDPLKAATTPTATYNSDRDNSFLQVHNCIQKENKDSLHSNTANRRTTPV*

Gene Symbol:CACNG2
Accession:NR_166440
Location:EXON;NON-CODING

Gene Symbol:CACNG2
Accession:XM_017028531
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000924263 CLINVAR
dbSNP (RS) rs767439623 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene CACNG2 CLINVAR
OMIM 602911 CLINVAR