RGD:151771923 Rat Genome Database

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Variant: RGD:151771923 -  Homo sapiens

RGD ID: 151771923
RS ID: rs146062143
ClinVar ID: CV1366462
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLCO2A1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 133,661,558
GRCh38 3 133,942,714
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_841t1:c.1516T>A
NM_005630.3:c.1516T>A
LRG_841:g.114471T>A
NG_031964.3:g.114471T>A
More... 		09/17/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SLCO2A1
Accession:NM_005630
Location:EXON
Amino Acid Prediction: S to T (nonsynonymous)
Amino Acid Position: 506
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLLPKLGASQGSDTSTSRAGRCARSVFGNIKVFVLCQGLLQLCQLLYSAYFKSSLTTIEKRFGLSSSSSGLISSLNEIS
NAILIIFVSYFGSRVHRPRLIGIGGLFLAAGAFILTLPHFLSEPYQYTLASTGNNSRLQAELCQKHWQDLPPSKCHSTTQ
NPQKETSSMWGLMVVAQLLAGIGTVPIQPFGISYVDDFSEPSNSPLYISILFAISVFGPAFGYLLGSVMLQIFVDYGRVN
TAAVNLVPGDPRWIGAWWLGLLISSALLVLTSFPFFFFPRAMPIGAKRAPATADEARKLEEAKSRGSLVDFIKRFPCIFL
RLLMNSLFVLVVLAQCTFSSVIAGLSTFLNKFLEKQYGTSAAYANFLIGAVNLPAAALGMLFGGILMKRFVFSLQAIPRI
ATTIITISMILCVPLFFMGCSTPTVAEVYPPSTSSSIHPQSPACRRDCSCPDSIFHPVCGDNGIEYLSPCHAGCSNINMS
SATSKQLIYLNCSCVTGGSASAKTGTCPVPCAHFLLPAIFLISFVSLIACISHNPLYMMVLRVVNQEEKSFAIGVQFLLM
RLLAWLPSPALYGLTIDHSCIRWNSLCLGRRGACAYYDNDALRDRYLGLQMGYKALGMLLLCFISWRVKKNKEYNVQKAA
GLI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001929602 CLINVAR
dbSNP (RS) rs146062143 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLCO2A1 CLINVAR
OMIM 601460 CLINVAR