RGD:14732851 Rat Genome Database

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Variant: RGD:14732851 -  Homo sapiens

RGD ID: 14732851
RS ID: rs17027112
ClinVar ID: CV659523
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: REEP1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 86,491,334
GRCh38 2 86,264,211
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001371279.1:c.106-170C>A
NM_001164730.2:c.127-170C>A
NC_000002.12:g.86264211G>T
NM_001164732.2:c.106-170C>A
More... 		06/16/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:REEP1
Accession:XM_005264504
Location:5UTRS;INTRON

Gene Symbol:REEP1
Accession:XM_047445537
Location:5UTRS;INTRON

Gene Symbol:REEP1
Accession:XM_017004726
Location:INTRON

Gene Symbol:REEP1
Accession:NM_001410855
Location:INTRON

Gene Symbol:REEP1
Accession:XM_011533045
Location:INTRON

Gene Symbol:REEP1
Accession:XM_017004725
Location:INTRON

Gene Symbol:REEP1
Accession:NM_001164732
Location:INTRON

Gene Symbol:REEP1
Accession:NM_001164730
Location:INTRON

Gene Symbol:REEP1
Accession:NM_001371279
Location:INTRON

Gene Symbol:REEP1
Accession:NM_022912
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:REEP1
Accession:XM_017004727
Location:INTRON

Gene Symbol:REEP1
Accession:NM_001164731
Location:INTRON

Gene Symbol:REEP1
Accession:XM_011533044
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:REEP1
Accession:XM_047445536
Location:INTRON

Gene Symbol:REEP1
Accession:NM_001371280
Location:INTRON

Gene Symbol:REEP1
Accession:NM_001410856
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000836824 CLINVAR
dbSNP (RS) rs17027112 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene REEP1 CLINVAR
OMIM 609139 CLINVAR