RGD:14723935 Rat Genome Database

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Variant: RGD:14723935 -  Homo sapiens

RGD ID: 14723935
RS ID: rs145022978
ClinVar ID: CV659405
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: REEP1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 86,564,490
GRCh38 2 86,337,367
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001164731.2:c.24+112G>T
NM_001164732.2:c.32+112G>T
NG_013037.1:g.5717G>T
NC_000002.12:g.86337367C>A
More... 		06/16/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:REEP1
Accession:NM_022912
Location:INTRON

Gene Symbol:REEP1
Accession:XM_011533045
Location:INTRON

Gene Symbol:REEP1
Accession:XM_017004725
Location:INTRON

Gene Symbol:REEP1
Accession:XM_047445536
Location:INTRON

Gene Symbol:REEP1
Accession:NM_001410856
Location:INTRON

Gene Symbol:REEP1
Accession:XM_005264504
Location:INTRON

Gene Symbol:REEP1
Accession:XM_017004727
Location:INTRON

Gene Symbol:REEP1
Accession:XM_011533044
Location:INTRON

Gene Symbol:REEP1
Accession:XM_017004726
Location:INTRON

Gene Symbol:REEP1
Accession:NM_001371280
Location:INTRON

Gene Symbol:REEP1
Accession:NM_001164730
Location:INTRON

Gene Symbol:REEP1
Accession:NM_001371279
Location:INTRON

Gene Symbol:REEP1
Accession:XM_047445537
Location:INTRON

Gene Symbol:REEP1
Accession:NM_001164732
Location:INTRON

Gene Symbol:REEP1
Accession:NM_001410855
Location:INTRON

Gene Symbol:REEP1
Accession:NM_001164731
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000832758 CLINVAR
dbSNP (RS) rs145022978 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene REEP1 CLINVAR
OMIM 609139 CLINVAR