RGD:11631085 Rat Genome Database

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Variant: RGD:11631085 -  Homo sapiens

RGD ID: 11631085
RS ID: rs745377265
ClinVar ID: CV344752
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127892425  PDYN  PDYN-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 1,974,835
GRCh38 20 1,994,189
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_028027.1:g.5057G>A
NC_000020.11:g.1994189C>T
NC_000020.10:g.1974835C>T
NM_001190899.2:c.-298G>A
More... 		06/14/2016 2kb upstream variant|5 prime utr variant uncertain significance Spinocerebellar Ataxia, Dominant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PDYN
Accession:NM_001190899
Location:5UTRS;EXON

Gene Symbol:PDYN
Accession:NM_001190900
Location:INTRON

Gene Symbol:PDYN
Accession:NM_001190898
Location:INTRON

Gene Symbol:PDYN
Accession:NM_001190892
Location:INTRON

Gene Symbol:PDYN
Accession:XM_011529247
Location:INTRON

Gene Symbol:PDYN
Accession:XM_011529246
Location:INTRON

Gene Symbol:PDYN
Accession:XM_011529248
Location:INTRON

Gene Symbol:PDYN
Accession:XM_011529250
Location:INTRON

Gene Symbol:PDYN
Accession:XM_017027878
Location:INTRON

Gene Symbol:PDYN
Accession:XM_011529244
Location:INTRON

Gene Symbol:PDYN
Accession:XM_011529245
Location:INTRON

Gene Symbol:PDYN
Accession:NM_024411
Location:INTRON

Gene Symbol:PDYN
Accession:XM_011529249
Location:INTRON

Gene Symbol:PDYN-AS1
Accession:NR_134520
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000368252 CLINVAR
dbSNP (RS) rs745377265 CLINVAR
MedGen C4087347 CLINVAR
NCBI Gene 727993 CLINVAR
  PDYN CLINVAR
OMIM 131340 CLINVAR