RGD:12885383 Rat Genome Database

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Variant: RGD:12885383 -  Homo sapiens

RGD ID: 12885383
RS ID: rs77930100
ClinVar ID: CV398073
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DRD2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 113,281,476
GRCh38 11 113,410,754
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008841.1:g.69526G>A
NC_000011.10:g.113410754C>T
NC_000011.9:g.113281476C>T
NP_000786.1:p.Lys435=
More... 		02/09/2018 synonymous variant likely benign 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_047426511
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 406
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLNLSWYDDDLERQNWSRPFNGSDGKADRPHYNYYATLLTLLIAVIVFGNVLVCMAVSREKALQTTTNYLIVSLAVAD
LLVATLVMPWVVYLEVVGEWKFSRIHCDIFVTLDVMMCTASILNLCAISIDRYTAVAMPMLYNTRYSSKRRVTVMISIVW
VLSFTISCPLLFGLNNADQNECIIANPAFVVYSSIVSFYVPFIVTLLVYIKIYIVLRRRRKRVNTKRSSRAFRAHLRAPL
KEAARRAQELEMEMLSSTSPPERTRYSPIPPSHHQLTLPDPSHHGLHSTPDSPAKPEKNGHAKDHPKIAKIFEIQTMPNG
KTRTSLKTMSRRKLSQQKEKKATQMLAIVLGVFIICWLPFFITHILNIHCDCNIPPVLYSAFTWLGYVNSAVNPIIYTTF
NIEFRKAFLKILHC*

Gene Symbol:DRD2
Accession:XM_017017296
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 435
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLNLSWYDDDLERQNWSRPFNGSDGKADRPHYNYYATLLTLLIAVIVFGNVLVCMAVSREKALQTTTNYLIVSLAVAD
LLVATLVMPWVVYLEVVGEWKFSRIHCDIFVTLDVMMCTASILNLCAISIDRYTAVAMPMLYNTRYSSKRRVTVMISIVW
VLSFTISCPLLFGLNNADQNECIIANPAFVVYSSIVSFYVPFIVTLLVYIKIYIVLRRRRKRVNTKRSSRAFRAHLRAPL
KGNCTHPEDMKLCTVIMKSNGSFPVNRRRVEAARRAQELEMEMLSSTSPPERTRYSPIPPSHHQLTLPDPSHHGLHSTPD
SPAKPEKNGHAKDHPKIAKIFEIQTMPNGKTRTSLKTMSRRKLSQQKEKKATQMLAIVLGVFIICWLPFFITHILNIHCD
CNIPPVLYSAFTWLGYVNSAVNPIIYTTFNIEFRKAFLKILHC*

Gene Symbol:DRD2
Accession:NM_016574
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 406
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLNLSWYDDDLERQNWSRPFNGSDGKADRPHYNYYATLLTLLIAVIVFGNVLVCMAVSREKALQTTTNYLIVSLAVAD
LLVATLVMPWVVYLEVVGEWKFSRIHCDIFVTLDVMMCTASILNLCAISIDRYTAVAMPMLYNTRYSSKRRVTVMISIVW
VLSFTISCPLLFGLNNADQNECIIANPAFVVYSSIVSFYVPFIVTLLVYIKIYIVLRRRRKRVNTKRSSRAFRAHLRAPL
KEAARRAQELEMEMLSSTSPPERTRYSPIPPSHHQLTLPDPSHHGLHSTPDSPAKPEKNGHAKDHPKIAKIFEIQTMPNG
KTRTSLKTMSRRKLSQQKEKKATQMLAIVLGVFIICWLPFFITHILNIHCDCNIPPVLYSAFTWLGYVNSAVNPIIYTTF
NIEFRKAFLKILHC*

Gene Symbol:DRD2
Accession:NM_000795
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 435
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPLNLSWYDDDLERQNWSRPFNGSDGKADRPHYNYYATLLTLLIAVIVFGNVLVCMAVSREKALQTTTNYLIVSLAVAD
LLVATLVMPWVVYLEVVGEWKFSRIHCDIFVTLDVMMCTASILNLCAISIDRYTAVAMPMLYNTRYSSKRRVTVMISIVW
VLSFTISCPLLFGLNNADQNECIIANPAFVVYSSIVSFYVPFIVTLLVYIKIYIVLRRRRKRVNTKRSSRAFRAHLRAPL
KGNCTHPEDMKLCTVIMKSNGSFPVNRRRVEAARRAQELEMEMLSSTSPPERTRYSPIPPSHHQLTLPDPSHHGLHSTPD
SPAKPEKNGHAKDHPKIAKIFEIQTMPNGKTRTSLKTMSRRKLSQQKEKKATQMLAIVLGVFIICWLPFFITHILNIHCD
CNIPPVLYSAFTWLGYVNSAVNPIIYTTFNIEFRKAFLKILHC*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000465239 CLINVAR
dbSNP (RS) rs77930100 CLINVAR
MedGen C0013421 CLINVAR
NCBI Gene DRD2 CLINVAR
OMIM 126450 CLINVAR