RGD:151875101 Rat Genome Database

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Variant: RGD:151875101 -  Homo sapiens

RGD ID: 151875101
RS ID: rs372559396
ClinVar ID: CV1419023
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARL2BP  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 57,279,285
GRCh38 16 57,245,373
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_012106.4:c.6C>G
NG_033905.1:g.5248C>G
NC_000016.10:g.57245373C>G
NC_000016.9:g.57279285C>G
More... 		10/21/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ARL2BP
Accession:NM_012106
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEALEGESFALSFSSASDAEFDAVVGYLEDIIMDDEFQLLQRNFMDKYYLEFEDTEENKLIYTPIFNEYISLVEKYIEEQ
LLQRIPEFNMAAFTTTLQHHKDEVAGDIFDMLLTFTDFLAFKEMFLDYRAEKEGRGLDLSSGLVVTSLCKSSSLPASQNN
LRH*

Gene Symbol:ARL2BP
Accession:XM_047433883
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001906968 CLINVAR
dbSNP (RS) rs372559396 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ARL2BP CLINVAR
OMIM 615407 CLINVAR