RGD:156362670 Rat Genome Database

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Variant: RGD:156362670 -  Homo sapiens

RGD ID: 156362670
ClinVar ID: CV1934731
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLCO2A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 133,654,661
GRCh38 3 133,935,817
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_841t1:c.1771C>T
NM_005630.3:c.1771C>T
LRG_841:g.121368C>T
NG_031964.3:g.121368C>T
More... 		04/23/2023 nonsense pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:SLCO2A1
Accession:NM_005630
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 591
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLLPKLGASQGSDTSTSRAGRCARSVFGNIKVFVLCQGLLQLCQLLYSAYFKSSLTTIEKRFGLSSSSSGLISSLNEIS
NAILIIFVSYFGSRVHRPRLIGIGGLFLAAGAFILTLPHFLSEPYQYTLASTGNNSRLQAELCQKHWQDLPPSKCHSTTQ
NPQKETSSMWGLMVVAQLLAGIGTVPIQPFGISYVDDFSEPSNSPLYISILFAISVFGPAFGYLLGSVMLQIFVDYGRVN
TAAVNLVPGDPRWIGAWWLGLLISSALLVLTSFPFFFFPRAMPIGAKRAPATADEARKLEEAKSRGSLVDFIKRFPCIFL
RLLMNSLFVLVVLAQCTFSSVIAGLSTFLNKFLEKQYGTSAAYANFLIGAVNLPAAALGMLFGGILMKRFVFSLQAIPRI
ATTIITISMILCVPLFFMGCSTPTVAEVYPPSTSSSIHPQSPACRRDCSCPDSIFHPVCGDNGIEYLSPCHAGCSNINMS
SATSKQLIYLNCSCVTGGSASAKTGSCPVPCAHFLLPAIFLISFVSLIACISHNPLYMMVLRVVNQEEKSFAIGVQFLLM
RLLAWLPSPALYGLTIDHSCIRWNSLCLGR*GACAYYDNDALRDRYLGLQMGYKALGMLLLCFISWRVKKNKEYNVQKAA
GLI*
Variant Samples
Additional References at PubMed
PMID:24153155   PMID:24929850   PMID:28492532   PMID:28963081  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002651747 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLCO2A1 CLINVAR
OMIM 601460 CLINVAR