RGD:13215854 Rat Genome Database

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Variant: RGD:13215854 -  Homo sapiens

RGD ID: 13215854
RS ID: rs370803277
ClinVar ID: CV430562
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNG2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 36,983,528
GRCh38 22 36,587,481
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1159t1:c.279A>C
NR_166440.1:n.1455A>C
LRG_1159p1:p.Thr93=
NP_001365980.1:p.Thr70=
More... 		09/18/2015 non-coding transcript variant|synonymous variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CACNG2
Accession:NM_006078
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 93
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLFDRGVQMLLTTVGAFAAFSLMTIAVGTDYWLYSRGVCKTKSVSENETSKKNEEVMTHSGLWRTCCLEGNFKGLCKQI
DHFPEDADYEADTAEYFLRAVRASSIFPILSVILLFMGGLCIAASEFYKTRHNIILSAGIFFVSAGLSNIIGIIVYISAN
AGDPSKSDSKKNSYSYGWSFYFGALSFIIAEMVGVLAVHMFIDRHKQLRATARATDYLQASAITRIPSYRYRYQRRSRSS
SRSTEPSHSRDASPVGIKGFNTLPSTEISMYTLSRDPLKAATTPTATYNSDRDNSFLQVHNCIQKENKDSLHSNTANRRT
TPV*

Gene Symbol:CACNG2
Accession:NM_001379051
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 70
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:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000503029 CLINVAR
dbSNP (RS) rs370803277 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CACNG2 CLINVAR
OMIM 602911 CLINVAR