RGD:15201105 Rat Genome Database

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Variant: RGD:15201105 -  Homo sapiens

RGD ID: 15201105
RS ID: rs200403236
ClinVar ID: CV730462
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IMPDH1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 128,035,096
GRCh38 7 128,395,042
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001142575.2:c.1076-9C>T
NM_001142574.2:c.1136-9C>T
NM_001142573.2:c.1151-9C>T
NM_001304521.2:c.1199-9C>T
More... 		02/27/2018 intron variant likely benign none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IMPDH1
Accession:XM_047420333
Location:INTRON

Gene Symbol:IMPDH1
Accession:NM_001142575
Location:INTRON

Gene Symbol:IMPDH1
Accession:XM_024446755
Location:INTRON

Gene Symbol:IMPDH1
Accession:XM_047420334
Location:INTRON

Gene Symbol:IMPDH1
Accession:NM_001142576
Location:INTRON

Gene Symbol:IMPDH1
Accession:NM_000883
Location:INTRON

Gene Symbol:IMPDH1
Accession:NM_183243
Location:INTRON

Gene Symbol:IMPDH1
Accession:NM_001142573
Location:INTRON

Gene Symbol:IMPDH1
Accession:NM_001304521
Location:INTRON

Gene Symbol:IMPDH1
Accession:XM_017012173
Location:INTRON

Gene Symbol:IMPDH1
Accession:XM_024446757
Location:INTRON

Gene Symbol:IMPDH1
Accession:NM_001102605
Location:INTRON

Gene Symbol:IMPDH1
Accession:XM_024446756
Location:INTRON

Gene Symbol:IMPDH1
Accession:NM_001142574
Location:INTRON

Gene Symbol:IMPDH1
Accession:XM_024446758
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000891101 CLINVAR
  RCV003910583 CLINVAR
dbSNP (RS) rs200403236 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene IMPDH1 CLINVAR
OMIM 146690 CLINVAR