RGD:28883987 Rat Genome Database

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Variant: RGD:28883987 -  Homo sapiens

RGD ID: 28883987
RS ID: rs200296479
ClinVar ID: CV863810
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSEN2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 227,083,490
GRCh38 1 226,895,789
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007381.2:g.30606G>A
NM_012486.3:c.*210G>A
LRG_225:g.30606G>A
LRG_225t1:c.*210G>A
More... 		01/13/2018 3 prime utr variant uncertain significance Alzheimer disease familial type 4
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PSEN2
Accession:NM_000447
Location:3UTRS;EXON

Gene Symbol:PSEN2
Accession:NM_012486
Location:3UTRS;EXON

Gene Symbol:PSEN2
Accession:XM_005273199
Location:3UTRS;EXON

Gene Symbol:PSEN2
Accession:XM_017001836
Location:3UTRS;EXON

Gene Symbol:PSEN2
Accession:XM_017001835
Location:3UTRS;EXON

Gene Symbol:PSEN2
Accession:XM_047425601
Location:3UTRS;EXON

Gene Symbol:PSEN2
Accession:XM_047425596
Location:3UTRS;EXON

Gene Symbol:PSEN2
Accession:XM_047425597
Location:3UTRS;EXON

Gene Symbol:PSEN2
Accession:XR_949150
Location:INTRON;NON-CODING

Gene Symbol:PSEN2
Accession:XR_001737316
Location:INTRON;NON-CODING

Gene Symbol:PSEN2
Accession:XR_007061979
Location:INTRON;NON-CODING

Gene Symbol:PSEN2
Accession:XR_007061980
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001097666 CLINVAR
  RCV001097667 CLINVAR
dbSNP (RS) rs200296479 CLINVAR
MedGen C1847200 CLINVAR
  C3150958 CLINVAR
NCBI Gene PSEN2 CLINVAR
OMIM 600759 CLINVAR
  606889 CLINVAR
  613697 CLINVAR