RGD:402520159 Rat Genome Database

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Variant: RGD:402520159 -  Homo sapiens

RGD ID: 402520159
ClinVar ID: CV3002220
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCP2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 53,453,700
GRCh38 1 52,988,028
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001193617.2:c.731-1G>C
NM_001007098.3:c.842-1G>C
NM_001193600.2:c.842-1G>C
NM_001193599.2:c.902-1G>C
More... 		02/15/2023 splice acceptor variant likely pathogenic none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:SCP2
Accession:NM_002979
Location:INTRON

Gene Symbol:SCP2
Accession:NM_001193600
Location:INTRON

Gene Symbol:SCP2
Accession:NM_001193599
Location:INTRON

Gene Symbol:SCP2
Accession:NM_001193617
Location:INTRON

Gene Symbol:SCP2
Accession:NM_001007098
Location:INTRON

Gene Symbol:SCP2
Accession:NM_001007099
Location:INTRON

Gene Symbol:SCP2
Accession:NM_001007250
Location:INTRON

Gene Symbol:SCP2
Accession:NM_001007100
Location:INTRON

Gene Symbol:SCP2
Accession:XM_005271103
Location:INTRON

Gene Symbol:SCP2
Accession:XM_011541935
Location:INTRON

Gene Symbol:SCP2
Accession:NM_001330587
Location:INTRON

Gene Symbol:SCP2
Accession:XM_047427504
Location:INTRON

Gene Symbol:SCP2
Accession:XM_047427507
Location:INTRON

Gene Symbol:SCP2
Accession:XM_047427506
Location:INTRON

Gene Symbol:SCP2
Accession:XM_047427508
Location:INTRON

.
PMID:16199547   PMID:16685654   PMID:26497993   PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003690090 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SCP2 CLINVAR
OMIM 184755 CLINVAR