RGD:14712867 Rat Genome Database

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Variant: RGD:14712867 -  Homo sapiens

RGD ID: 14712867
RS ID: rs190162771
ClinVar ID: CV660544
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MFSD8  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 128,853,802
GRCh38 4 127,932,647
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000004.12:g.127932647T>C
NC_000004.11:g.128853802T>C
NM_001371596.2:c.863+338A>G
NM_152778.4:c.863+338A>G
More... 		06/14/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MFSD8
Accession:XM_047449999
Location:3UTRS;INTRON

Gene Symbol:MFSD8
Accession:XM_047449997
Location:3UTRS;INTRON

Gene Symbol:MFSD8
Accession:NM_001371590
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_047449995
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001371592
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001363521
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001410765
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_005262898
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001371591
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_047449998
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_024453982
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_047449994
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001363520
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001371594
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001371596
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001371595
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001371593
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_047449993
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001410766
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_017007989
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_152778
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_047449992
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000828557 CLINVAR
dbSNP (RS) rs190162771 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MFSD8 CLINVAR
OMIM 611124 CLINVAR