RGD:156070961 Rat Genome Database

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Variant: RGD:156070961 -  Homo sapiens

RGD ID: 156070961
ClinVar ID: CV2172619
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC123038185  SLCO2A1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 133,664,055
GRCh38 3 133,945,211
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_841t1:c.1345T>C
NM_005630.3:c.1345T>C
LRG_841:g.111974T>C
NG_031964.3:g.111974T>C
More... 		06/20/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SLCO2A1
Accession:NM_005630
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 449
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLLPKLGASQGSDTSTSRAGRCARSVFGNIKVFVLCQGLLQLCQLLYSAYFKSSLTTIEKRFGLSSSSSGLISSLNEIS
NAILIIFVSYFGSRVHRPRLIGIGGLFLAAGAFILTLPHFLSEPYQYTLASTGNNSRLQAELCQKHWQDLPPSKCHSTTQ
NPQKETSSMWGLMVVAQLLAGIGTVPIQPFGISYVDDFSEPSNSPLYISILFAISVFGPAFGYLLGSVMLQIFVDYGRVN
TAAVNLVPGDPRWIGAWWLGLLISSALLVLTSFPFFFFPRAMPIGAKRAPATADEARKLEEAKSRGSLVDFIKRFPCIFL
RLLMNSLFVLVVLAQCTFSSVIAGLSTFLNKFLEKQYGTSAAYANFLIGAVNLPAAALGMLFGGILMKRFVFSLQAIPRI
ATTIITISMILCVPLFFMGCSTPTVAEVYPPSTSSSIHPQSPACRRDCACPDSIFHPVCGDNGIEYLSPCHAGCSNINMS
SATSKQLIYLNCSCVTGGSASAKTGSCPVPCAHFLLPAIFLISFVSLIACISHNPLYMMVLRVVNQEEKSFAIGVQFLLM
RLLAWLPSPALYGLTIDHSCIRWNSLCLGRRGACAYYDNDALRDRYLGLQMGYKALGMLLLCFISWRVKKNKEYNVQKAA
GLI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003053715 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LOC123038185 CLINVAR
  SLCO2A1 CLINVAR
OMIM 601460 CLINVAR