RGD:156361196 Rat Genome Database

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Variant: RGD:156361196 -  Homo sapiens

RGD ID: 156361196
ClinVar ID: CV2180366
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLCO2A1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 133,667,781
GRCh38 3 133,948,937
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005630.3:c.896T>C
LRG_841:g.108248T>C
NG_031964.3:g.108248T>C
NC_000003.12:g.133948937A>G
More... 		05/20/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SLCO2A1
Accession:NM_005630
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 299
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLLPKLGASQGSDTSTSRAGRCARSVFGNIKVFVLCQGLLQLCQLLYSAYFKSSLTTIEKRFGLSSSSSGLISSLNEIS
NAILIIFVSYFGSRVHRPRLIGIGGLFLAAGAFILTLPHFLSEPYQYTLASTGNNSRLQAELCQKHWQDLPPSKCHSTTQ
NPQKETSSMWGLMVVAQLLAGIGTVPIQPFGISYVDDFSEPSNSPLYISILFAISVFGPAFGYLLGSVMLQIFVDYGRVN
TAAVNLVPGDPRWIGAWWLGLLISSALLVLTSFPFFFFPRAMPIGAKRAPATADEARKSEEAKSRGSLVDFIKRFPCIFL
RLLMNSLFVLVVLAQCTFSSVIAGLSTFLNKFLEKQYGTSAAYANFLIGAVNLPAAALGMLFGGILMKRFVFSLQAIPRI
ATTIITISMILCVPLFFMGCSTPTVAEVYPPSTSSSIHPQSPACRRDCSCPDSIFHPVCGDNGIEYLSPCHAGCSNINMS
SATSKQLIYLNCSCVTGGSASAKTGSCPVPCAHFLLPAIFLISFVSLIACISHNPLYMMVLRVVNQEEKSFAIGVQFLLM
RLLAWLPSPALYGLTIDHSCIRWNSLCLGRRGACAYYDNDALRDRYLGLQMGYKALGMLLLCFISWRVKKNKEYNVQKAA
GLI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003049035 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLCO2A1 CLINVAR
OMIM 601460 CLINVAR