RGD:11594012 Rat Genome Database

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Variant: RGD:11594012 -  Homo sapiens

RGD ID: 11594012
RS ID: rs17510310
ClinVar ID: CV288272
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: REEP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 86,443,208
GRCh38 2 86,216,085
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_713t2:c.*1015G>A
LRG_713:g.126999G>A
NG_013037.1:g.126999G>A
NC_000002.12:g.86216085C>T
More...
06/23/2018 3 prime utr variant likely benign none provided; Spastic paraplegia 31, autosomal dominant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:REEP1
Accession:NM_001164730
Location:3UTRS;EXON

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

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

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

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

Gene Symbol:REEP1
Accession:XM_011533045
Location:3UTRS;EXON

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

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

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

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

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

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

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:REEP1
Accession:XM_047445536
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_001410856
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000354655 CLINVAR
  RCV001566114 CLINVAR
dbSNP (RS) rs17510310 CLINVAR
MedGen C1853247 CLINVAR
  C3661900 CLINVAR
NCBI Gene REEP1 CLINVAR
OMIM 609139 CLINVAR
  610250 CLINVAR