RGD:14721329 Rat Genome Database

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Variant: RGD:14721329 -  Homo sapiens

RGD ID: 14721329
RS ID: rs876161
ClinVar ID: CV666027
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ISCU  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 108,961,228
GRCh38 12 108,567,452
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_213595.4:c.418+184A>G
NM_014301.4:c.343+184A>G
NM_001301140.1:c.418+184A>G
NM_001301141.1:c.418+184A>G
More... 		06/14/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ISCU
Accession:NM_001301140
Location:INTRON

Gene Symbol:ISCU
Accession:NM_001320042
Location:INTRON

Gene Symbol:ISCU
Accession:NM_014301
Location:INTRON

Gene Symbol:ISCU
Accession:XM_047428627
Location:INTRON

Gene Symbol:ISCU
Accession:NM_213595
Location:INTRON

Gene Symbol:ISCU
Accession:NM_001301141
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000831627 CLINVAR
dbSNP (RS) rs876161 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ISCU CLINVAR
OMIM 611911 CLINVAR