RGD:150496757 Rat Genome Database

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Variant: RGD:150496757 -  Homo sapiens

RGD ID: 150496757
RS ID: rs73404718
ClinVar ID: CV1236902
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ISCU  LOC130008686  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 108,956,085
GRCh38 12 108,562,309
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001301140.1:c.-314G>C
NM_001301141.1:c.-314G>C
NM_001320042.1:c.-314G>C
NM_014301.4:c.-485G>C
More... 		07/07/2018 5 prime utr variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ISCU
Accession:NM_014301
Location:5UTRS;EXON

Gene Symbol:ISCU
Accession:NM_001301140
Location:5UTRS;EXON

Gene Symbol:ISCU
Accession:NM_001301141
Location:5UTRS;EXON

Gene Symbol:ISCU
Accession:NM_001320042
Location:5UTRS;EXON

Gene Symbol:ISCU
Accession:NR_135127
Location:EXON;NON-CODING

Gene Symbol:ISCU
Accession:NM_213595
Location:INTRON

Gene Symbol:ISCU
Accession:XM_047428627
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001655966 CLINVAR
dbSNP (RS) rs73404718 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ISCU CLINVAR
  LOC130008686 CLINVAR
OMIM 611911 CLINVAR