rs1273370389 Rat Genome Database

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Variant: rs1273370389 -  Homo sapiens

RGD ID: 28884043
RS ID: rs1273370389
ClinVar ID: CV864529
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMACHC  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 45,976,429
GRCh38 1 45,510,757
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001330540.2:c.*1542T>C
NM_015506.3:c.*1542T>C
NG_013378.1:g.15574T>C
NC_000001.11:g.45510757T>C
More... 		01/13/2018 3 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MMACHC
Accession:NM_015506
Location:3UTRS;EXON

Gene Symbol:MMACHC
Accession:NM_001330540
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001097682 CLINVAR
dbSNP (RS) rs1273370389 CLINVAR
MedGen CN043592 CLINVAR
NCBI Gene MMACHC CLINVAR
OMIM 609831 CLINVAR