RGD:12895054 Rat Genome Database

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Variant: RGD:12895054 -  Homo sapiens

RGD ID: 12895054
RS ID: rs1064794334
ClinVar ID: CV406899
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC17A5  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 74,320,121
GRCh38 6 73,610,398
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008272.1:g.48617T>C
NC_000006.12:g.73610398A>G
NC_000006.11:g.74320121A>G
NM_012434.5:c.1259+2T>C
More...
03/02/2017 splice donor variant pathogenic Free Sialic Acid Storage Disorders; Infantile sialic acid storage disorder (ISSD); N-acetylneuraminic acid (NANA) storage disease (NSD); none provided; Sialuria, Finnish type
Disease Annotations     Click to see Annotation Detail View
sialuria  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:SLC17A5
Accession:NM_012434
Location:INTRON

Gene Symbol:SLC17A5
Accession:NM_001382636
Location:INTRON

Gene Symbol:SLC17A5
Accession:NM_001382629
Location:INTRON

Gene Symbol:SLC17A5
Accession:NM_001382632
Location:INTRON

Gene Symbol:SLC17A5
Accession:NM_001382635
Location:INTRON

Gene Symbol:SLC17A5
Accession:NM_001382634
Location:INTRON

Gene Symbol:SLC17A5
Accession:NM_001382630
Location:INTRON

Gene Symbol:SLC17A5
Accession:NM_001382633
Location:INTRON

Gene Symbol:SLC17A5
Accession:NM_001382631
Location:INTRON

Gene Symbol:SLC17A5
Accession:XM_047418631
Location:INTRON

Gene Symbol:SLC17A5
Accession:XM_047418630
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10581036   PMID:10947946   PMID:12794688   PMID:15172001   PMID:15805149   PMID:16199547   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000485108 CLINVAR
  RCV001865447 CLINVAR
dbSNP (RS) rs1064794334 CLINVAR
MedGen C1096903 CLINVAR
  C3661900 CLINVAR
  CN517202 CLINVAR
NCBI Gene SLC17A5 CLINVAR
OMIM 604322 CLINVAR
  604369 CLINVAR
SNOMED CT 87074006 CLINVAR