RGD:11609534 Rat Genome Database

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Variant: RGD:11609534 -  Homo sapiens

RGD ID: 11609534
RS ID: rs527772065
ClinVar ID: CV318539
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC37A4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 118,900,963
GRCh38 11 119,030,253
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_187t1:c.-217G>A
LRG_187:g.5654G>A
NG_013331.1:g.5654G>A
NC_000011.10:g.119030253C>T
More... 		01/13/2018 2kb upstream variant|5 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC37A4
Accession:NM_001164277
Location:5UTRS;EXON

Gene Symbol:SLC37A4
Accession:NM_001164279
Location:5UTRS;INTRON

Gene Symbol:SLC37A4
Accession:NM_001467
Location:5UTRS;INTRON

Gene Symbol:SLC37A4
Accession:NM_001164278
Location:5UTRS;INTRON

Gene Symbol:SLC37A4
Accession:NM_001164280
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000369704 CLINVAR
dbSNP (RS) rs527772065 CLINVAR
MedGen C0017920 CLINVAR
NCBI Gene SLC37A4 CLINVAR
OMIM 602671 CLINVAR
SNOMED CT 7265005 CLINVAR