RGD:28875393 Rat Genome Database

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Variant: RGD:28875393 -  Homo sapiens

RGD ID: 28875393
RS ID: rs2051804981
ClinVar ID: CV889236
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ITPR1  LOC124906209  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 4,888,381
GRCh38 3 4,846,697
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001378452.1:c.*472T>G
NG_016144.1:g.358350T>G
NC_000003.12:g.4846697T>G
NC_000003.11:g.4888381T>G
More... 		01/13/2018 3 prime utr variant uncertain significance Spinocerebellar Ataxia, Dominant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ITPR1
Accession:NM_001378452
Location:3UTRS;EXON

Gene Symbol:ITPR1
Accession:NM_001168272
Location:3UTRS;EXON

Gene Symbol:ITPR1
Accession:NM_002222
Location:3UTRS;EXON

Gene Symbol:ITPR1
Accession:NM_001099952
Location:3UTRS;EXON

Gene Symbol:LOC124906209
Accession:XR_007095795
Location:INTRON;NON-CODING

Gene Symbol:LOC124906209
Accession:XR_007095796
Location:INTRON;NON-CODING

Gene Symbol:LOC124906209
Accession:XR_007095792
Location:INTRON;NON-CODING

Gene Symbol:LOC124906209
Accession:XR_007095793
Location:INTRON;NON-CODING

Gene Symbol:LOC124906209
Accession:XR_007095791
Location:INTRON;NON-CODING

Gene Symbol:LOC124906209
Accession:XR_007095794
Location:INTRON;NON-CODING

Gene Symbol:LOC124906209
Accession:XR_007095790
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001147635 CLINVAR
dbSNP (RS) rs2051804981 CLINVAR
MedGen C4087347 CLINVAR
NCBI Gene ITPR1 CLINVAR
OMIM 147265 CLINVAR