RGD:11626735 Rat Genome Database

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Variant: RGD:11626735 -  Homo sapiens

RGD ID: 11626735
RS ID: rs535633260
ClinVar ID: CV345335
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SARM1  SLC46A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 26,725,610
GRCh38 17 28,398,594
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
LRG_183:g.12618G>A
NG_013306.1:g.12618G>A
NC_000017.11:g.28398594C>T
NC_000017.10:g.26725610C>T
More... 		01/13/2018 3 prime utr variant uncertain significance infancy <1 / 1 000 000 Hereditary Folate Malabsorption
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC46A1
Accession:NM_001242366
Location:3UTRS;EXON

Gene Symbol:SLC46A1
Accession:XM_005277786
Location:3UTRS;EXON

Gene Symbol:SLC46A1
Accession:XM_047435279
Location:3UTRS;EXON

Gene Symbol:SARM1
Accession:NM_015077
Location:3UTRS;EXON

Gene Symbol:SLC46A1
Accession:NM_080669
Location:3UTRS;EXON

Gene Symbol:SLC46A1
Accession:XM_017024110
Location:3UTRS;EXON

Gene Symbol:SLC46A1
Accession:XM_047435280
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000268706 CLINVAR
dbSNP (RS) rs535633260 CLINVAR
MedGen C0342705 CLINVAR
NCBI Gene SARM1 CLINVAR
  SLC46A1 CLINVAR
OMIM 229050 CLINVAR
  607732 CLINVAR
  611672 CLINVAR
SNOMED CT 62578003 CLINVAR