RGD:14693474 Rat Genome Database

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Variant: RGD:14693474 -  Homo sapiens

RGD ID: 14693474
RS ID: rs752017508
ClinVar ID: CV620411
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC22A12  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 64,366,007
GRCh38 11 64,598,535
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_144585.4:c.850C>T
NG_008110.1:g.12726C>T
NC_000011.10:g.64598535C>T
NC_000011.9:g.64366007C>T
More... 		04/27/2017 nonsense uncertain significance Renal hypouricemia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC22A12
Accession:XM_006718431
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 274
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLENFSAAVPSHRCWAPLLDNSTAQASILGSLSPEALLAISIPPGPNQRPHQCRRFRQPQWQLLDPNATATSWSEADTEP
CVDGWVYDRSIFTSTIVAKWNLVCDSHALKPMAQSIYLAGILVGAAACGPASDRFGRRLVLTWSYLQMAVMGTAAAFAPA
FPVYCLFRFLLAFAVAGVMMNTGTLRRSLTWRHAGGLHAGSRAEPLGLLAVMEWTAARARPLVMTLNSLGFSFGHGLTAA
VAYGVRDWTLLQLVVSVPFFLCFLYSWWLAESA*WLLTTGRLDWGLQELWRVAAINGKGAVQDTLTPEVLLSAMREELSM
GQPPASLGTLLRMPGLRFRTCISTLCWFAFGFTFFGLALDLQALGSNIFLLQMFIGVVDIPAKMGALLLLSHLGRRPTLA
ASLLLAGLCILANTLVPHEMGALRSALAVLGLGGVGAAFTCITIYSSELFPTVLRMTAVGLGQMAARGGAILGPLVRLLG
VHGPWLPLLVYGTVPVLSGLAALLLPETQSLPLPDTIQDVQNQAVKKATHGTLGNSVLKSTQF*

Gene Symbol:SLC22A12
Accession:NM_001276327
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 176
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFSELLDLVGGLGRFQVLQTMALMVSIMWLCTQSMLENFSAAVPSHRCWAPLLDNSTAQASILGSLSPEALLAISIPPG
PNQRPHQCRRFRQPQWQLLDPNATATSWSEADTEPCVDGWVYDRSIFTSTIVAKWNLVCDSHALKPMAQSIYLAGILVGA
AACGPASDRWLAESA*WLLTTGRLDWGLQELWRVAAINGKGAVQDTLTPEVLLSAMREELSMGQPPASLGTLLRMPGLRF
RTCISTLCWFAFGFTFFGLALDLQALGSNIFLLQMFIGVVDIPAKMGALLLLSHLGRRPTLAASLLLAGLCILANTLVPH
EMGALRSALAVLGLGGVGAAFTCITIYSSELFPTVLRMTAVGLGQMAARGGAILGPLVRLLGVHGPWLPLLVYGTVPVLS
GLAALLLPETQSLPLPDTIQDVQNQAVKKATHGTLGNSVLKSTQF*

Gene Symbol:SLC22A12
Accession:NM_001276326
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFSELLDLVGGLGRFQVLQTMALMVSIMWLCTQSMLENFSAAVPSHRCWAPLLDNSTAQASILGSLSPEALLAISIPPG
PNQRPHQCRRFRQPQWQLLDPNATATSWSEADTEPCVDGWVYDRSIFTSTIVAKWNLVCDSHALKPMAQSIYLAGILVGA
AACGPASDRFGRRLVLTWSYLQMAVMVMEWTAARARPLVMTLNSLGFSFGHGLTAAVAYGVRDWTLLQLVVSVPFFLCFL
YSWWLAESA*WLLTTGRLDWGLQELWRVAAINGKGAVQDTLTPEVLLSAMREELSMGQPPASLGTLLRMPGLRFRTCIST
LCWFAFGFTFFGLALDLQALGSNIFLLQMFIGVVDIPAKMGALLLLSHLGRRPTLAASLLLAGLCILANTLVPHEMGALR
SALAVLGLGGVGAAFTCITIYSSELFPTVLRMTAVGLGQMAARGGAILGPLVRLLGVHGPWLPLLVYGTVPVLSGLAALL
LPETQSLPLPDTIQDVQNQAVKKATHGTLGNSVLKSTQF*

Gene Symbol:SLC22A12
Accession:NM_144585
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 284
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFSELLDLVGGLGRFQVLQTMALMVSIMWLCTQSMLENFSAAVPSHRCWAPLLDNSTAQASILGSLSPEALLAISIPPG
PNQRPHQCRRFRQPQWQLLDPNATATSWSEADTEPCVDGWVYDRSIFTSTIVAKWNLVCDSHALKPMAQSIYLAGILVGA
AACGPASDRFGRRLVLTWSYLQMAVMGTAAAFAPAFPVYCLFRFLLAFAVAGVMMNTGTLLMEWTAARARPLVMTLNSLG
FSFGHGLTAAVAYGVRDWTLLQLVVSVPFFLCFLYSWWLAESA*WLLTTGRLDWGLQELWRVAAINGKGAVQDTLTPEVL
LSAMREELSMGQPPASLGTLLRMPGLRFRTCISTLCWFAFGFTFFGLALDLQALGSNIFLLQMFIGVVDIPAKMGALLLL
SHLGRRPTLAASLLLAGLCILANTLVPHEMGALRSALAVLGLGGVGAAFTCITIYSSELFPTVLRMTAVGLGQMAARGGA
ILGPLVRLLGVHGPWLPLLVYGTVPVLSGLAALLLPETQSLPLPDTIQDVQNQAVKKATHGTLGNSVLKSTQF*

Gene Symbol:SLC22A12
Accession:NM_153378
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEWTAARARPLVMTLNSLGFSFGHGLTAAVAYGVRDWTLLQLVVSVPFFLCFLYSWWLAESA*WLLTTGRLDWGLQELWR
VAAINGKGAVQDTLTPEVLLSAMREELSMGQPPASLGTLLRMPGLRFRTCISTLCWFAFGFTFFGLALDLQALGSNIFLL
QMFIGVVDIPAKMGALLLLSHLGRRPTLAASLLLAGLCILANTLVPHEMGALRSALAVLGLGGVGAAFTCITIYSSELFP
TVLRMTAVGLGQMAARGGAILGPLVRLLGVHGPWLPLLVYGTVPVLSGLAALLLPETQSLPLPDTIQDVQNQAVKKATHG
TLGNSVLKSTQF*

Gene Symbol:SLC22A12
Accession:XM_006718430
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 309
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFSELLDLVGGLGRFQVLQTMALMVSIMWLCTQSMLENFSAAVPSHRCWAPLLDNSTAQASILGSLSPEALLAISIPPG
PNQRPHQCRRFRQPQWQLLDPNATATSWSEADTEPCVDGWVYDRSIFTSTIVAKWNLVCDSHALKPMAQSIYLAGILVGA
AACGPASDRFGRRLVLTWSYLQMAVMGTAAAFAPAFPVYCLFRFLLAFAVAGVMMNTGTLRRSLTWRHAGGLHAGSRAEP
LGLLAVMEWTAARARPLVMTLNSLGFSFGHGLTAAVAYGVRDWTLLQLVVSVPFFLCFLYSWWLAESA*WLLTTGRLDWG
LQELWRVAAINGKGAVQDTLTPEVLLSAMREELSMGQPPASLGTLLRMPGLRFRTCISTLCWFAFGFTFFGLALDLQALG
SNIFLLQMFIGVVDIPAKMGALLLLSHLGRRPTLAASLLLAGLCILANTLVPHEMGALRSALAVLGLGGVGAAFTCITIY
SSELFPTVLRMTAVGLGQMAARGGAILGPLVRLLGVHGPWLPLLVYGTVPVLSGLAALLLPETQSLPLPDTIQDVQNQAV
KKATHGTLGNSVLKSTQF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000779070 CLINVAR
dbSNP (RS) rs752017508 CLINVAR
MedGen C0473219 CLINVAR
NCBI Gene SLC22A12 CLINVAR
OMIM 220150 CLINVAR
  607096 CLINVAR
SNOMED CT 236478009 CLINVAR