SLC22A12 solute carrier family 22 member 12

Information
Symbol
SLC22A12
Type
protein-coding
Description
solute carrier family 22 member 12
Entrez Gene ID
116085
Genome
hg19
Position
chr11:64,358,692-64,369,816
Genome
hg38
Position
chr11:64,591,220-64,602,344
MIM
607096 OMIM
HGNC
HGNC:17989 HGNC
Ensembl
ENSG00000197891 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 17 24
Likely pathogenic 4 8
Benign 0 98
Likely benign 0 112
Conflicting classifications of pathogenicity 0 30
Uncertain significance 0 228
Ranking
ClinVar
0
0
96
340
14
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM OAT4L
SYNONYM RST
SYNONYM UAT
SYNONYM URAT1
SYNONYM hURAT1
MIM 607096 OMIM
HGNC HGNC:17989 HGNC
Ensembl ENSG00000197891 Ensembl
AllianceGenome HGNC:17989
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000336464.7 hg38 chr11 64,591,263 64,601,551 10,289
ENST00000377567.6 hg38 chr11 64,590,641 64,602,348 11,708
ENST00000377572.5 hg38 chr11 64,590,810 64,602,353 11,544
ENST00000473690.5 hg38 chr11 64,591,228 64,602,348 11,121
ENST00000377574.6 hg38 chr11 64,591,220 64,602,344 11,125
ENST00000377567.6 hg19 chr11 64,358,113 64,369,820 11,708
ENST00000377572.5 hg19 chr11 64,358,282 64,369,825 11,544
ENST00000377574.6 hg19 chr11 64,358,692 64,369,816 11,125
ENST00000473690.5 hg19 chr11 64,358,700 64,369,820 11,121
ENST00000336464.7 hg19 chr11 64,358,735 64,369,023 10,289
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