rs914920127 Rat Genome Database

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Variant: rs914920127 -  Homo sapiens

RGD ID: 28910292
RS ID: rs914920127
ClinVar ID: CV872190
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP2A2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 110,783,934
GRCh38 12 110,346,129
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001681.4:c.2859+11G>A
NM_170665.4:c.2859+11G>A
NG_007097.2:g.69503G>A
NC_000012.12:g.110346129G>A
More... 		01/13/2018 intron variant uncertain significance Darier Disease; Darier's disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ATP2A2
Accession:XM_011538402
Location:INTRON

Gene Symbol:ATP2A2
Accession:NM_001413013
Location:INTRON

Gene Symbol:ATP2A2
Accession:NM_170665
Location:INTRON

Gene Symbol:ATP2A2
Accession:NM_001681
Location:INTRON

Gene Symbol:ATP2A2
Accession:NM_001413015
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ATP2A2
Accession:NM_001413014
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001109052 CLINVAR
dbSNP (RS) rs914920127 CLINVAR
MedGen C0022595 CLINVAR
NCBI Gene ATP2A2 CLINVAR
OMIM 108740 CLINVAR
  124200 CLINVAR
SNOMED CT 48611009 CLINVAR