rs2039597 Rat Genome Database

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Variant: rs2039597 -  Homo sapiens

RGD ID: 150455101
RS ID: rs2039597
ClinVar ID: CV1277129
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MACF1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 39,749,884
GRCh38 1 39,284,212
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001394062.1:c.1035+27G>T
NM_012090.5:c.1050+27G>T
NG_050926.1:g.207796G>T
NC_000001.11:g.39284212G>T
More... 		05/12/2021 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MACF1
Accession:NM_001397473
Location:INTRON

Gene Symbol:MACF1
Accession:NM_012090
Location:INTRON

Gene Symbol:MACF1
Accession:NM_001394062
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001708921 CLINVAR
dbSNP (RS) rs2039597 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MACF1 CLINVAR
OMIM 608271 CLINVAR