RGD:150491672 Rat Genome Database

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Variant: RGD:150491672 -  Homo sapiens

RGD ID: 150491672
RS ID: rs4653695
ClinVar ID: CV1239317
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EPHX1  TMEM63A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 226,033,083
GRCh38 1 225,845,382
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000120.4:c.*35A>C
NM_001136018.4:c.*35A>C
NM_001291163.2:c.*35A>C
NM_001378426.1:c.*35A>C
More... 		06/18/2021 3 prime utr variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:EPHX1
Accession:NM_001378426
Location:3UTRS;EXON

Gene Symbol:EPHX1
Accession:NM_001378431
Location:3UTRS;EXON

Gene Symbol:EPHX1
Accession:NM_001378427
Location:3UTRS;EXON

Gene Symbol:EPHX1
Accession:NM_001291163
Location:3UTRS;EXON

Gene Symbol:EPHX1
Accession:NM_001378430
Location:3UTRS;EXON

Gene Symbol:EPHX1
Accession:NM_001136018
Location:3UTRS;EXON

Gene Symbol:EPHX1
Accession:NM_000120
Location:3UTRS;EXON

Gene Symbol:EPHX1
Accession:NM_001378429
Location:3UTRS;EXON

Gene Symbol:EPHX1
Accession:NM_001378432
Location:3UTRS;EXON

Gene Symbol:EPHX1
Accession:NM_001378428
Location:3UTRS;EXON

Gene Symbol:EPHX1
Accession:NR_165625
Location:EXON;NON-CODING

Gene Symbol:EPHX1
Accession:NR_165624
Location:EXON;NON-CODING

Gene Symbol:EPHX1
Accession:NR_165627
Location:EXON;NON-CODING

Gene Symbol:EPHX1
Accession:NR_165626
Location:EXON;NON-CODING

Gene Symbol:TMEM63A
Accession:XM_047435146
Location:INTRON

Gene Symbol:TMEM63A
Accession:XM_047435148
Location:INTRON

Gene Symbol:TMEM63A
Accession:XM_047435144
Location:INTRON

Gene Symbol:TMEM63A
Accession:XM_047435145
Location:INTRON

Gene Symbol:TMEM63A
Accession:NM_014698
Location:INTRON

Gene Symbol:TMEM63A
Accession:XM_011544330
Location:INTRON

Gene Symbol:TMEM63A
Accession:XR_007065257
Location:INTRON;NON-CODING

Gene Symbol:TMEM63A
Accession:XR_949163
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001654885 CLINVAR
dbSNP (RS) rs4653695 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene EPHX1 CLINVAR
  TMEM63A CLINVAR
OMIM 132810 CLINVAR
  618685 CLINVAR