RGD:14718377 Rat Genome Database

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Variant: RGD:14718377 -  Homo sapiens

RGD ID: 14718377
RS ID: rs2276899
ClinVar ID: CV660549
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABHD18  LOC127401499  MFSD8  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 128,886,696
GRCh38 4 127,965,541
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_152778.2:c.-75-333C>G
NM_001366047.1:c.-363G>C
NC_000004.11:g.128886696G>C
NM_001366045.1:c.-513G>C
More... 		06/14/2018 5 prime utr variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ABHD18
Accession:NM_001319305
Location:5UTRS;EXON

Gene Symbol:ABHD18
Accession:NM_001319307
Location:5UTRS;EXON

Gene Symbol:ABHD18
Accession:NM_001319306
Location:5UTRS;EXON

Gene Symbol:ABHD18
Accession:NM_001358454
Location:5UTRS;EXON

Gene Symbol:ABHD18
Accession:NM_001358451
Location:5UTRS;EXON

Gene Symbol:ABHD18
Accession:NM_001366042
Location:5UTRS;EXON

Gene Symbol:ABHD18
Accession:NM_001366038
Location:5UTRS;EXON

Gene Symbol:ABHD18
Accession:NM_001366039
Location:5UTRS;EXON

Gene Symbol:ABHD18
Accession:NM_001366040
Location:5UTRS;EXON

Gene Symbol:ABHD18
Accession:NM_001366037
Location:5UTRS;EXON

Gene Symbol:ABHD18
Accession:NM_001366041
Location:5UTRS;EXON

Gene Symbol:ABHD18
Accession:NM_001366044
Location:5UTRS;EXON

Gene Symbol:ABHD18
Accession:NM_001366045
Location:5UTRS;EXON

Gene Symbol:ABHD18
Accession:NM_001366043
Location:5UTRS;EXON

Gene Symbol:ABHD18
Accession:NM_001039717
Location:5UTRS;EXON

Gene Symbol:ABHD18
Accession:NM_025097
Location:5UTRS;EXON

Gene Symbol:ABHD18
Accession:NM_001366048
Location:5UTRS;EXON

Gene Symbol:ABHD18
Accession:NM_001366046
Location:5UTRS;EXON

Gene Symbol:ABHD18
Accession:NM_001366047
Location:5UTRS;EXON

Gene Symbol:MFSD8
Accession:NM_152778
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:MFSD8
Accession:XM_024453982
Location:5UTRS;INTRON

Gene Symbol:MFSD8
Accession:NM_001371590
Location:5UTRS;INTRON

Gene Symbol:MFSD8
Accession:XM_047449993
Location:5UTRS;INTRON

Gene Symbol:MFSD8
Accession:XM_047449992
Location:5UTRS;INTRON

Gene Symbol:MFSD8
Accession:XM_047449998
Location:5UTRS;INTRON

Gene Symbol:MFSD8
Accession:XM_047449995
Location:5UTRS;INTRON

Gene Symbol:MFSD8
Accession:XM_047449999
Location:5UTRS;INTRON

Gene Symbol:MFSD8
Accession:NM_001410765
Location:5UTRS;INTRON

Gene Symbol:MFSD8
Accession:XM_005262898
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_017007989
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001371595
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001363521
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001371593
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:MFSD8
Accession:NM_001371591
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001371592
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_047449994
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_047449997
Location:INTRON

Gene Symbol:MFSD8
Accession:NM_001410766
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000830373 CLINVAR
dbSNP (RS) rs2276899 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ABHD18 CLINVAR
  MFSD8 CLINVAR
OMIM 611124 CLINVAR