RGD:150507586 Rat Genome Database

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Variant: RGD:150507586 -  Homo sapiens

RGD ID: 150507586
RS ID: rs117101952
ClinVar ID: CV1229126
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSMC3IP  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 40,726,029
GRCh38 17 42,574,011
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256015.2:c.100+88C>T
NM_001256016.2:c.100+88C>T
NM_001256014.2:c.148+88C>T
NM_013290.7:c.337+88C>T
More... 		06/05/2020 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PSMC3IP
Accession:NR_045669
Location:EXON;NON-CODING

Gene Symbol:PSMC3IP
Accession:NM_001256015
Location:INTRON

Gene Symbol:PSMC3IP
Accession:NM_001256016
Location:INTRON

Gene Symbol:PSMC3IP
Accession:NM_001256014
Location:INTRON

Gene Symbol:PSMC3IP
Accession:NM_016556
Location:INTRON

Gene Symbol:PSMC3IP
Accession:NM_013290
Location:INTRON

Gene Symbol:PSMC3IP
Accession:NR_045670
Location:INTRON;NON-CODING

Gene Symbol:PSMC3IP
Accession:NR_045671
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001635997 CLINVAR
dbSNP (RS) rs117101952 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PSMC3IP CLINVAR
OMIM 608665 CLINVAR