RGD:155983343 Rat Genome Database

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Variant: RGD:155983343 -  Homo sapiens

RGD ID: 155983343
ClinVar ID: CV2070227
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARL2BP  LOC124903697  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 57,280,038
GRCh38 16 57,246,126
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_012106.4:c.85G>A
NG_033905.1:g.6001G>A
NC_000016.10:g.57246126G>A
NC_000016.9:g.57280038G>A
More... 		06/23/2022 missense variant uncertain significance none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:ARL2BP
Accession:XM_047433883
Location:5UTRS;EXON

Gene Symbol:ARL2BP
Accession:NM_012106
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDALEGESFALSFSSASDAEFDAVVGYLKDIIMDDEFQLLQRNFMDKYYLEFEDTEENKLIYTPIFNEYISLVEKYIEEQ
LLQRIPEFNMAAFTTTLQHHKDEVAGDIFDMLLTFTDFLAFKEMFLDYRAEKEGRGLDLSSGLVVTSLCKSSSLPASQNN
LRH*

Gene Symbol:LOC124903697
Accession:XR_007065082
Location:EXON;NON-CODING

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV002842629 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ARL2BP CLINVAR
OMIM 615407 CLINVAR