RGD:11588955 Rat Genome Database

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Variant: RGD:11588955 -  Homo sapiens

RGD ID: 11588955
RS ID: rs551489805
ClinVar ID: CV287484
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: REEP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 86,441,782
GRCh38 2 86,214,659
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_713t2:c.*2441C>T
LRG_713:g.128425C>T
NG_013037.1:g.128425C>T
NC_000002.12:g.86214659G>A
More... 		01/13/2018 3 prime utr variant uncertain significance Spastic paraplegia 31, autosomal dominant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:REEP1
Accession:XM_011533045
Location:3UTRS;EXON

Gene Symbol:REEP1
Accession:XM_047445536
Location:3UTRS;EXON

Gene Symbol:REEP1
Accession:XM_017004727
Location:3UTRS;EXON

Gene Symbol:REEP1
Accession:NM_001164731
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:REEP1
Accession:XM_017004725
Location:3UTRS;EXON

Gene Symbol:REEP1
Accession:NM_001371280
Location:3UTRS;EXON

Gene Symbol:REEP1
Accession:XM_017004726
Location:3UTRS;EXON

Gene Symbol:REEP1
Accession:NM_001410856
Location:3UTRS;EXON

Gene Symbol:REEP1
Accession:NM_001164730
Location:3UTRS;EXON

Gene Symbol:REEP1
Accession:NM_022912
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:REEP1
Accession:NM_001164732
Location:3UTRS;EXON

Gene Symbol:REEP1
Accession:XM_011533044
Location:3UTRS;EXON

Gene Symbol:REEP1
Accession:XM_005264504
Location:3UTRS;EXON

Gene Symbol:REEP1
Accession:XM_047445537
Location:3UTRS;EXON

Gene Symbol:REEP1
Accession:NM_001410855
Location:3UTRS;EXON

Gene Symbol:REEP1
Accession:NM_001371279
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000306877 CLINVAR
dbSNP (RS) rs551489805 CLINVAR
MedGen C1853247 CLINVAR
NCBI Gene REEP1 CLINVAR
OMIM 609139 CLINVAR
  610250 CLINVAR