RGD:127338064 Rat Genome Database

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Variant: RGD:127338064 -  Homo sapiens

RGD ID: 127338064
RS ID: rs373881060
ClinVar ID: CV1142505
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC22A12  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 64,361,100
GRCh38 11 64,593,628
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_153378.3:c.-2-7C>T
NM_001276327.2:c.506+746C>T
NM_001276326.2:c.560-7C>T
NM_144585.4:c.662-7C>T
More... 		03/20/2020 intron variant likely benign 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: L to F (nonsynonymous)
Amino Acid Position: 244
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFSELLDLVGGLGRFQVLQTMALMVSIMWLCTQSMLENFSAAVPSHRCWAPLLDNSTAQASILGSLSPEALLAISIPPG
PNQRPHQCRRFRQPQWQLLDPNATATSWSEADTEPCVDGWVYDRSIFTSTIVAKWNLVCDSHALKPMAQSIYLAGILVGA
AACGPASDRFGRRLVLTWSYLQMAVMGTAAAFAPAFPVYCLFRFLLAFAVAGVMMNTGTLRRSLTWRHAGGLHAGSRAEP
LGLFAVMEWTAARARPLVMTLNSLGFSFGHGLTAAVAYGVRDWTLLQLVVSVPFFLCFLYSWWLAESARWLLTTGRLDWG
LQELWRVAAINGKGAVQDTLTPEVLLSAMREELSMGQPPASLGTLLRMPGLRFRTCISTLCWFAFGFTFFGLALDLQALG
SNIFLLQMFIGVVDIPAKMGALLLLSHLGRRPTLAASLLLAGLCILANTLVPHEMGALRSALAVLGLGGVGAAFTCITIY
SSELFPTVLRMTAVGLGQMAARGGAILGPLVRLLGVHGPWLPLLVYGTVPVLSGLAALLLPETQSLPLPDTIQDVQNQAV
KKATHGTLGNSVLKSTQF*

Gene Symbol:SLC22A12
Accession:XM_006718431
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 209
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLENFSAAVPSHRCWAPLLDNSTAQASILGSLSPEALLAISIPPGPNQRPHQCRRFRQPQWQLLDPNATATSWSEADTEP
CVDGWVYDRSIFTSTIVAKWNLVCDSHALKPMAQSIYLAGILVGAAACGPASDRFGRRLVLTWSYLQMAVMGTAAAFAPA
FPVYCLFRFLLAFAVAGVMMNTGTLRRSLTWRHAGGLHAGSRAEPLGLFAVMEWTAARARPLVMTLNSLGFSFGHGLTAA
VAYGVRDWTLLQLVVSVPFFLCFLYSWWLAESARWLLTTGRLDWGLQELWRVAAINGKGAVQDTLTPEVLLSAMREELSM
GQPPASLGTLLRMPGLRFRTCISTLCWFAFGFTFFGLALDLQALGSNIFLLQMFIGVVDIPAKMGALLLLSHLGRRPTLA
ASLLLAGLCILANTLVPHEMGALRSALAVLGLGGVGAAFTCITIYSSELFPTVLRMTAVGLGQMAARGGAILGPLVRLLG
VHGPWLPLLVYGTVPVLSGLAALLLPETQSLPLPDTIQDVQNQAVKKATHGTLGNSVLKSTQF*

Gene Symbol:SLC22A12
Accession:NM_001276326
Location:INTRON

Gene Symbol:SLC22A12
Accession:NM_144585
Location:INTRON

Gene Symbol:SLC22A12
Accession:NM_001276327
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001493481 CLINVAR
  RCV002501690 CLINVAR
dbSNP (RS) rs373881060 CLINVAR
MedGen C0473219 CLINVAR
  C3661900 CLINVAR
NCBI Gene SLC22A12 CLINVAR
OMIM 220150 CLINVAR
  607096 CLINVAR
SNOMED CT 236478009 CLINVAR