RGD:12841009 Rat Genome Database

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Variant: RGD:12841009 -  Homo sapiens

RGD ID: 12841009
RS ID: rs571200988
ClinVar ID: CV369923
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OCLN  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 68,788,480
GRCh38 5 69,492,653
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_028291.1:g.5362G>A
NC_000005.10:g.69492653G>A
NC_000005.9:g.68788480G>A
NM_002538.4:c.-75G>A
More... 		06/30/2016 5 prime utr variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:OCLN
Accession:NM_001410743
Location:5UTRS;EXON

Gene Symbol:OCLN
Accession:XM_047416593
Location:5UTRS;EXON

Gene Symbol:OCLN
Accession:NM_002538
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:OCLN
Accession:NM_001205254
Location:INTRON

Gene Symbol:OCLN
Accession:XM_017008913
Location:INTRON

Gene Symbol:OCLN
Accession:NM_001205255
Location:INTRON

Gene Symbol:OCLN
Accession:XM_047416594
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000431807 CLINVAR
dbSNP (RS) rs571200988 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene OCLN CLINVAR
OMIM 602876 CLINVAR