RGD:126725756 Rat Genome Database

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Variant: RGD:126725756 -  Homo sapiens

RGD ID: 126725756
RS ID: rs199765712
ClinVar ID: CV994298
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DRD2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 113,288,849
GRCh38 11 113,418,127
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000795.4:c.295G>A
NP_000786.1:p.Glu99Lys
NP_057658.2:p.Glu99Lys
NM_016574.4:c.295G>A
More... 		05/12/2020 missense variant uncertain significance Dystonia
Disease Annotations     Click to see Annotation Detail View
dystonia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Dystonia  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:DRD2
Accession:XM_017017296
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLNLSWYDDDLERQNWSRPFNGSDGKADRPHYNYYATLLTLLIAVIVFGNVLVCMAVSREKALQTTTNYLIVSLAVAD
LLVATLVMPWVVYLEVVGKWKFSRIHCDIFVTLDVMMCTASILNLCAISIDRYTAVAMPMLYNTRYSSKRRVTVMISIVW
VLSFTISCPLLFGLNNADQNECIIANPAFVVYSSIVSFYVPFIVTLLVYIKIYIVLRRRRKRVNTKRSSRAFRAHLRAPL
KGNCTHPEDMKLCTVIMKSNGSFPVNRRRVEAARRAQELEMEMLSSTSPPERTRYSPIPPSHHQLTLPDPSHHGLHSTPD
SPAKPEKNGHAKDHPKIAKIFEIQTMPNGKTRTSLKTMSRRKLSQQKEKKATQMLAIVLGVFIICWLPFFITHILNIHCD
CNIPPVLYSAFTWLGYVNSAVNPIIYTTFNIEFRKAFLKILHC*

Gene Symbol:DRD2
Accession:XM_047426511
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLNLSWYDDDLERQNWSRPFNGSDGKADRPHYNYYATLLTLLIAVIVFGNVLVCMAVSREKALQTTTNYLIVSLAVAD
LLVATLVMPWVVYLEVVGKWKFSRIHCDIFVTLDVMMCTASILNLCAISIDRYTAVAMPMLYNTRYSSKRRVTVMISIVW
VLSFTISCPLLFGLNNADQNECIIANPAFVVYSSIVSFYVPFIVTLLVYIKIYIVLRRRRKRVNTKRSSRAFRAHLRAPL
KEAARRAQELEMEMLSSTSPPERTRYSPIPPSHHQLTLPDPSHHGLHSTPDSPAKPEKNGHAKDHPKIAKIFEIQTMPNG
KTRTSLKTMSRRKLSQQKEKKATQMLAIVLGVFIICWLPFFITHILNIHCDCNIPPVLYSAFTWLGYVNSAVNPIIYTTF
NIEFRKAFLKILHC*

Gene Symbol:DRD2
Accession:NM_016574
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLNLSWYDDDLERQNWSRPFNGSDGKADRPHYNYYATLLTLLIAVIVFGNVLVCMAVSREKALQTTTNYLIVSLAVAD
LLVATLVMPWVVYLEVVGKWKFSRIHCDIFVTLDVMMCTASILNLCAISIDRYTAVAMPMLYNTRYSSKRRVTVMISIVW
VLSFTISCPLLFGLNNADQNECIIANPAFVVYSSIVSFYVPFIVTLLVYIKIYIVLRRRRKRVNTKRSSRAFRAHLRAPL
KEAARRAQELEMEMLSSTSPPERTRYSPIPPSHHQLTLPDPSHHGLHSTPDSPAKPEKNGHAKDHPKIAKIFEIQTMPNG
KTRTSLKTMSRRKLSQQKEKKATQMLAIVLGVFIICWLPFFITHILNIHCDCNIPPVLYSAFTWLGYVNSAVNPIIYTTF
NIEFRKAFLKILHC*

Gene Symbol:DRD2
Accession:NM_000795
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLNLSWYDDDLERQNWSRPFNGSDGKADRPHYNYYATLLTLLIAVIVFGNVLVCMAVSREKALQTTTNYLIVSLAVAD
LLVATLVMPWVVYLEVVGKWKFSRIHCDIFVTLDVMMCTASILNLCAISIDRYTAVAMPMLYNTRYSSKRRVTVMISIVW
VLSFTISCPLLFGLNNADQNECIIANPAFVVYSSIVSFYVPFIVTLLVYIKIYIVLRRRRKRVNTKRSSRAFRAHLRAPL
KGNCTHPEDMKLCTVIMKSNGSFPVNRRRVEAARRAQELEMEMLSSTSPPERTRYSPIPPSHHQLTLPDPSHHGLHSTPD
SPAKPEKNGHAKDHPKIAKIFEIQTMPNGKTRTSLKTMSRRKLSQQKEKKATQMLAIVLGVFIICWLPFFITHILNIHCD
CNIPPVLYSAFTWLGYVNSAVNPIIYTTFNIEFRKAFLKILHC*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001302671 CLINVAR
dbSNP (RS) rs199765712 CLINVAR
MedGen C0013421 CLINVAR
NCBI Gene DRD2 CLINVAR
OMIM 126450 CLINVAR