RGD:150479568 Rat Genome Database

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Variant: RGD:150479568 -  Homo sapiens

RGD ID: 150479568
RS ID: rs62327333
ClinVar ID: CV1239407
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CENPE  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 104,063,381
GRCh38 4 103,142,224
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001286734.2:c.5230-316T>A
NM_001813.3:c.5305-316T>A
NG_041798.1:g.61186T>A
NC_000004.12:g.103142224A>T
More... 		07/17/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CENPE
Accession:XM_047449540
Location:INTRON

Gene Symbol:CENPE
Accession:XM_011531546
Location:INTRON

Gene Symbol:CENPE
Accession:XM_011531544
Location:INTRON

Gene Symbol:CENPE
Accession:XM_047449535
Location:INTRON

Gene Symbol:CENPE
Accession:XM_047449533
Location:INTRON

Gene Symbol:CENPE
Accession:XM_047449539
Location:INTRON

Gene Symbol:CENPE
Accession:XM_047449538
Location:INTRON

Gene Symbol:CENPE
Accession:NM_001286734
Location:INTRON

Gene Symbol:CENPE
Accession:NM_001813
Location:INTRON

Gene Symbol:CENPE
Accession:XM_011531549
Location:INTRON

Gene Symbol:CENPE
Accession:XM_011531545
Location:INTRON

Gene Symbol:CENPE
Accession:XM_011531548
Location:INTRON

Gene Symbol:CENPE
Accession:XM_011531547
Location:INTRON

Gene Symbol:CENPE
Accession:XM_047449541
Location:INTRON

Gene Symbol:CENPE
Accession:XM_047449536
Location:INTRON

Gene Symbol:CENPE
Accession:XM_017007659
Location:INTRON

Gene Symbol:CENPE
Accession:XM_047449534
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001652570 CLINVAR
dbSNP (RS) rs62327333 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CENPE CLINVAR
OMIM 117143 CLINVAR