RGD:11647739 Rat Genome Database

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Variant: RGD:11647739 -  Homo sapiens

RGD ID: 11647739
RS ID: rs886060950
ClinVar ID: CV300981
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SEC63  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 108,191,437
GRCh38 6 107,870,233
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008270.1:g.93046A>G
NC_000006.12:g.107870233T>C
NC_000006.11:g.108191437T>C
NM_007214.5:c.*1471A>G
More... 		06/14/2016 3 prime utr variant uncertain significance POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SEC63
Accession:XM_047418131
Location:3UTRS;EXON

Gene Symbol:SEC63
Accession:XM_047418130
Location:3UTRS;EXON

Gene Symbol:SEC63
Accession:NM_007214
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000278009 CLINVAR
dbSNP (RS) rs886060950 CLINVAR
MedGen C4310769 CLINVAR
NCBI Gene SEC63 CLINVAR
OMIM 608648 CLINVAR
  617004 CLINVAR