RGD:11651044 Rat Genome Database

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Variant: RGD:11651044 -  Homo sapiens

RGD ID: 11651044
RS ID: rs886061727
ClinVar ID: CV303989
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC17A5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 74,303,350
GRCh38 6 73,593,627
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008272.1:g.65388G>A
NC_000006.12:g.73593627C>T
NC_000006.11:g.74303350C>T
NM_012434.5:c.*1450G>A
More... 		06/14/2016 3 prime utr variant uncertain significance infancy <1 / 1 000 000 Free sialic acid storage disease, infantile form; Free Sialic Acid Storage Disorders; Infantile Sialic Acid Storage Disease; Infantile sialic acid storage disorder; Infantile sialic acid storage disorder (ISSD); N-acetylneuraminic acid (NANA) storage disease (NSD); N-Acetylneuraminic acid storage disease; NANA STORAGE DISEASE; Sialuria, Finnish type; Sialuria, infantile form
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC17A5
Accession:NM_001382629
Location:3UTRS;EXON

Gene Symbol:SLC17A5
Accession:NM_001382634
Location:3UTRS;EXON

Gene Symbol:SLC17A5
Accession:NM_001382633
Location:3UTRS;EXON

Gene Symbol:SLC17A5
Accession:NM_001382636
Location:3UTRS;EXON

Gene Symbol:SLC17A5
Accession:NM_012434
Location:3UTRS;EXON

Gene Symbol:SLC17A5
Accession:NM_001382635
Location:3UTRS;EXON

Gene Symbol:SLC17A5
Accession:NM_001382632
Location:3UTRS;EXON

Gene Symbol:SLC17A5
Accession:NM_001382630
Location:3UTRS;EXON

Gene Symbol:SLC17A5
Accession:NM_001382631
Location:3UTRS;EXON

Gene Symbol:SLC17A5
Accession:XM_047418631
Location:3UTRS;EXON

Gene Symbol:SLC17A5
Accession:XM_047418630
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000296676 CLINVAR
  RCV001095153 CLINVAR
dbSNP (RS) rs886061727 CLINVAR
MedGen C1096902 CLINVAR
  C1096903 CLINVAR
NCBI Gene SLC17A5 CLINVAR
OMIM 269920 CLINVAR
  604322 CLINVAR
  604369 CLINVAR
SNOMED CT 34566007 CLINVAR
  87074006 CLINVAR