RGD:150413118 Rat Genome Database

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Variant: RGD:150413118 -  Homo sapiens

RGD ID: 150413118
RS ID: rs76607746
ClinVar ID: CV1176410
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CENPE  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 104,064,786
GRCh38 4 103,143,629
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000004.12:g.103143629C>G
NC_000004.11:g.104064786C>G
NM_001813.3:c.5146-223G>C
NG_041798.1:g.59781G>C
More...
07/17/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CENPE
Accession:XM_011531545
Location:INTRON

Gene Symbol:CENPE
Accession:XM_047449541
Location:INTRON

Gene Symbol:CENPE
Accession:XM_047449536
Location:INTRON

Gene Symbol:CENPE
Accession:NM_001286734
Location:INTRON

Gene Symbol:CENPE
Accession:XM_011531544
Location:INTRON

Gene Symbol:CENPE
Accession:XM_011531548
Location:INTRON

Gene Symbol:CENPE
Accession:XM_047449533
Location:INTRON

Gene Symbol:CENPE
Accession:XM_011531546
Location:INTRON

Gene Symbol:CENPE
Accession:XM_047449534
Location:INTRON

Gene Symbol:CENPE
Accession:XM_047449538
Location:INTRON

Gene Symbol:CENPE
Accession:NM_001813
Location:INTRON

Gene Symbol:CENPE
Accession:XM_017007659
Location:INTRON

Gene Symbol:CENPE
Accession:XM_047449539
Location:INTRON

Gene Symbol:CENPE
Accession:XM_047449540
Location:INTRON

Gene Symbol:CENPE
Accession:XM_011531549
Location:INTRON

Gene Symbol:CENPE
Accession:XM_011531547
Location:INTRON

Gene Symbol:CENPE
Accession:XM_047449535
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001547699 CLINVAR
dbSNP (RS) rs76607746 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CENPE CLINVAR
OMIM 117143 CLINVAR