RGD:11624115 Rat Genome Database

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Variant: RGD:11624115 -  Homo sapiens

RGD ID: 11624115
RS ID: rs200340948
ClinVar ID: CV327271
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC22A12  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 64,360,940
GRCh38 11 64,593,468
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008110.1:g.7659T>C
NC_000011.10:g.64593468T>C
NC_000011.9:g.64360940T>C
NP_653186.2:p.Ala190=
More... 		12/10/2020 intron variant benign|uncertain significance none provided; Renal hypouricemia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC22A12
Accession:NM_153378
Location:5UTRS;INTRON

Gene Symbol:SLC22A12
Accession:XM_006718430
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 190
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFSELLDLVGGLGRFQVLQTMALMVSIMWLCTQSMLENFSAAVPSHRCWAPLLDNSTAQASILGSLSPEALLAISIPPG
PNQRPHQCRRFRQPQWQLLDPNATATSWSEADTEPCVDGWVYDRSIFTSTIVAKWNLVCDSHALKPMAQSIYLAGILVGA
AACGPASDRFGRRLVLTWSYLQMAVMGTAAAFAPAFPVYCLFRFLLAFAVAGVMMNTGTLRRSLTWRHAGGLHAGSRAEP
LGLLAVMEWTAARARPLVMTLNSLGFSFGHGLTAAVAYGVRDWTLLQLVVSVPFFLCFLYSWWLAESARWLLTTGRLDWG
LQELWRVAAINGKGAVQDTLTPEVLLSAMREELSMGQPPASLGTLLRMPGLRFRTCISTLCWFAFGFTFFGLALDLQALG
SNIFLLQMFIGVVDIPAKMGALLLLSHLGRRPTLAASLLLAGLCILANTLVPHEMGALRSALAVLGLGGVGAAFTCITIY
SSELFPTVLRMTAVGLGQMAARGGAILGPLVRLLGVHGPWLPLLVYGTVPVLSGLAALLLPETQSLPLPDTIQDVQNQAV
KKATHGTLGNSVLKSTQF*

Gene Symbol:SLC22A12
Accession:NM_144585
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 190
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFSELLDLVGGLGRFQVLQTMALMVSIMWLCTQSMLENFSAAVPSHRCWAPLLDNSTAQASILGSLSPEALLAISIPPG
PNQRPHQCRRFRQPQWQLLDPNATATSWSEADTEPCVDGWVYDRSIFTSTIVAKWNLVCDSHALKPMAQSIYLAGILVGA
AACGPASDRFGRRLVLTWSYLQMAVMGTAAAFAPAFPVYCLFRFLLAFAVAGVMMNTGTLLMEWTAARARPLVMTLNSLG
FSFGHGLTAAVAYGVRDWTLLQLVVSVPFFLCFLYSWWLAESARWLLTTGRLDWGLQELWRVAAINGKGAVQDTLTPEVL
LSAMREELSMGQPPASLGTLLRMPGLRFRTCISTLCWFAFGFTFFGLALDLQALGSNIFLLQMFIGVVDIPAKMGALLLL
SHLGRRPTLAASLLLAGLCILANTLVPHEMGALRSALAVLGLGGVGAAFTCITIYSSELFPTVLRMTAVGLGQMAARGGA
ILGPLVRLLGVHGPWLPLLVYGTVPVLSGLAALLLPETQSLPLPDTIQDVQNQAVKKATHGTLGNSVLKSTQF*

Gene Symbol:SLC22A12
Accession:XM_006718431
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLENFSAAVPSHRCWAPLLDNSTAQASILGSLSPEALLAISIPPGPNQRPHQCRRFRQPQWQLLDPNATATSWSEADTEP
CVDGWVYDRSIFTSTIVAKWNLVCDSHALKPMAQSIYLAGILVGAAACGPASDRFGRRLVLTWSYLQMAVMGTAAAFAPA
FPVYCLFRFLLAFAVAGVMMNTGTLRRSLTWRHAGGLHAGSRAEPLGLLAVMEWTAARARPLVMTLNSLGFSFGHGLTAA
VAYGVRDWTLLQLVVSVPFFLCFLYSWWLAESARWLLTTGRLDWGLQELWRVAAINGKGAVQDTLTPEVLLSAMREELSM
GQPPASLGTLLRMPGLRFRTCISTLCWFAFGFTFFGLALDLQALGSNIFLLQMFIGVVDIPAKMGALLLLSHLGRRPTLA
ASLLLAGLCILANTLVPHEMGALRSALAVLGLGGVGAAFTCITIYSSELFPTVLRMTAVGLGQMAARGGAILGPLVRLLG
VHGPWLPLLVYGTVPVLSGLAALLLPETQSLPLPDTIQDVQNQAVKKATHGTLGNSVLKSTQF*

Gene Symbol:SLC22A12
Accession:NM_001276326
Location:INTRON

Gene Symbol:SLC22A12
Accession:NM_001276327
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000382188 CLINVAR
  RCV002056216 CLINVAR
dbSNP (RS) rs200340948 CLINVAR
MedGen C0473219 CLINVAR
  C3661900 CLINVAR
NCBI Gene SLC22A12 CLINVAR
OMIM 220150 CLINVAR
  607096 CLINVAR
SNOMED CT 236478009 CLINVAR