RGD:8598012 Rat Genome Database

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Variant: RGD:8598012 -  Homo sapiens

RGD ID: 8598012
RS ID: rs28936679
ClinVar ID: CV23669
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AANAT  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 74,465,813
GRCh38 17 76,469,731
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_015976.1:g.21381G>A
NC_000017.11:g.76469731G>A
NC_000017.10:g.74465813G>A
NP_001079.1:p.Ala129Thr
More...
08/12/2011 missense|missense variant|non-coding transcript variant risk factor|uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AANAT
Accession:NM_001166579
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 174
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPQSMKGQKRPFGGPWRLKVLGGPPWLRRTLPKLGRPKEAPVARMSTQSTHPLKPEAPRLPPGIPESPSCQRRHTLPAS
EFRCLTPEDAVSAFEIEREAFISVLGVCPLYLDEIRHFLTLCPELSLGWFEEGCLVAFIIGSLWDKERLMQESLTLHRSG
GHIAHLHVLAVHRTFRQQGRGPILLWRYLHHLGSQPAVRRAALMCEDALVPFYERFSFHAVGPCAITVGSLTFMELHCSL
RGHPFLRRNSGC*

Gene Symbol:AANAT
Accession:NM_001088
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTQSTHPLKPEAPRLPPGIPESPSCQRRHTLPASEFRCLTPEDAVSAFEIEREAFISVLGVCPLYLDEIRHFLTLCPEL
SLGWFEEGCLVAFIIGSLWDKERLMQESLTLHRSGGHIAHLHVLAVHRTFRQQGRGPILLWRYLHHLGSQPAVRRAALMC
EDALVPFYERFSFHAVGPCAITVGSLTFMELHCSLRGHPFLRRNSGC*

Gene Symbol:AANAT
Accession:NR_110548
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:12736803  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000009162 CLINVAR
dbSNP (RS) rs28936679 CLINVAR
MedGen C3279991 CLINVAR
NCBI Gene AANAT CLINVAR
OMIM 600950 CLINVAR
  614163 CLINVAR
OMIM Allele 600950.0001 CLINVAR