RGD:152055109 Rat Genome Database

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Variant: RGD:152055109 -  Homo sapiens

RGD ID: 152055109
RS ID: rs375938553
ClinVar ID: CV1582040
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC123038185  SLCO2A1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 133,663,966
GRCh38 3 133,945,122
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_841t1:c.1434C>A
NM_005630.3:c.1434C>A
LRG_841:g.112063C>A
NG_031964.3:g.112063C>A
More... 		11/24/2021 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SLCO2A1
Accession:NM_005630
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 478
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLLPKLGASQGSDTSTSRAGRCARSVFGNIKVFVLCQGLLQLCQLLYSAYFKSSLTTIEKRFGLSSSSSGLISSLNEIS
NAILIIFVSYFGSRVHRPRLIGIGGLFLAAGAFILTLPHFLSEPYQYTLASTGNNSRLQAELCQKHWQDLPPSKCHSTTQ
NPQKETSSMWGLMVVAQLLAGIGTVPIQPFGISYVDDFSEPSNSPLYISILFAISVFGPAFGYLLGSVMLQIFVDYGRVN
TAAVNLVPGDPRWIGAWWLGLLISSALLVLTSFPFFFFPRAMPIGAKRAPATADEARKLEEAKSRGSLVDFIKRFPCIFL
RLLMNSLFVLVVLAQCTFSSVIAGLSTFLNKFLEKQYGTSAAYANFLIGAVNLPAAALGMLFGGILMKRFVFSLQAIPRI
ATTIITISMILCVPLFFMGCSTPTVAEVYPPSTSSSIHPQSPACRRDCSCPDSIFHPVCGDNGIEYLSPCHAGCSNINMS
SATSKQLIYLNCSCVTGGSASAKTGSCPVPCAHFLLPAIFLISFVSLIACISHNPLYMMVLRVVNQEEKSFAIGVQFLLM
RLLAWLPSPALYGLTIDHSCIRWNSLCLGRRGACAYYDNDALRDRYLGLQMGYKALGMLLLCFISWRVKKNKEYNVQKAA
GLI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002089612 CLINVAR
dbSNP (RS) rs375938553 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LOC123038185 CLINVAR
  SLCO2A1 CLINVAR
OMIM 601460 CLINVAR