RGD:28886693 Rat Genome Database

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Variant: RGD:28886693 -  Homo sapiens

RGD ID: 28886693
RS ID: rs766867633
ClinVar ID: CV859200
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADRA2B  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 96,780,796
GRCh38 2 96,115,048
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.96115048G>A
NP_000673.2:p.Arg368Cys
NC_000002.11:g.96780796G>A
NM_000682.7:c.1102C>T
More... 		01/01/2020 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ADRA2B
Accession:NM_000682
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 368
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDHQDPYSVQATAAIAAAITFLILFTIFGNALVILAVLTSRSLRAPQNLFLVSLAAADILVATLIIPFSLANELLGYWYF
RRTWCEVYLALDVLFCTSSIVHLCAISLDRYWAVSRALEYNSKRTPRRIKCIILTVWLIAAVISLPPLIYKGDQGPQPRG
RPQCKLNQEAWYILASSIGSFFAPCLIMILVYLRIYLIAKRSNRRGPRAKGGPGQGESKQPRPDHGGALASAKLPALASV
ASAREVNGHSKSTGEKEEGETPEDTGTRALPPSWAALPNSGQGQKEGVCGASPEDEAEEEEEEEEEEEECEPQAVPVSPA
SACSPPLQQPQGSRVLATLRGQVLLGRGVGAIGGQWWRRRAQLTREKCFTFVLAVVIGVFVLCWFPFFFSYSLGAICPKH
CKVPHGLFQFFFWIGYCNSSLNPVIYTIFNQDFRRAFRRILCRPWTQTAW*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001091894 CLINVAR
dbSNP (RS) rs766867633 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ADRA2B CLINVAR
OMIM 104260 CLINVAR