RGD:13623017 Rat Genome Database

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Variant: RGD:13623017 -  Homo sapiens

RGD ID: 13623017
RS ID: rs139398461
ClinVar ID: CV523720
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127460813  SLC52A2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 145,584,159
GRCh38 8 144,360,499
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.11:g.144360499C>T
NC_000008.10:g.145584159C>T
NM_001253815.2:c.1001+6C>T
NM_001363120.2:c.1001+6C>T
More... 		12/31/2019 intron variant benign|likely benign none provided; Riboflavin transporter deficiency type 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC52A2
Accession:NM_001410949
Location:INTRON

Gene Symbol:SLC52A2
Accession:NM_001363121
Location:INTRON

Gene Symbol:SLC52A2
Accession:NM_001253815
Location:INTRON

Gene Symbol:SLC52A2
Accession:XM_017013821
Location:INTRON

Gene Symbol:SLC52A2
Accession:XM_047422217
Location:INTRON

Gene Symbol:SLC52A2
Accession:NM_001363120
Location:INTRON

Gene Symbol:SLC52A2
Accession:NM_001363122
Location:INTRON

Gene Symbol:SLC52A2
Accession:XM_047422214
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:SLC52A2
Accession:NM_024531
Location:INTRON

Gene Symbol:SLC52A2
Accession:XM_017013822
Location:INTRON

Gene Symbol:SLC52A2
Accession:XM_047422215
Location:INTRON

Gene Symbol:SLC52A2
Accession:XM_047422216
Location:INTRON

Gene Symbol:SLC52A2
Accession:XM_047422213
Location:INTRON

Gene Symbol:SLC52A2
Accession:NM_001253816
Location:INTRON

Gene Symbol:SLC52A2
Accession:NM_001363118
Location:INTRON

Gene Symbol:SLC52A2
Accession:NR_045600
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000650470 CLINVAR
  RCV001085176 CLINVAR
dbSNP (RS) rs139398461 CLINVAR
MedGen C3553538 CLINVAR
  C3661900 CLINVAR
NCBI Gene SLC52A2 CLINVAR
OMIM 607882 CLINVAR
  614707 CLINVAR