KCNJ12 potassium inwardly rectifying channel subfamily J member 12

Information
Symbol
KCNJ12
Type
protein-coding
Description
potassium inwardly rectifying channel subfamily J member 12
Entrez Gene ID
3768
Genome
hg19
Position
chr17:21,279,669-21,323,182
Genome
hg38
Position
chr17:21,376,357-21,419,870
MIM
602323 OMIM
HGNC
HGNC:6258 HGNC
Ensembl
ENSG00000184185 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 72
Likely benign 0 24
Uncertain significance 0 26
Ranking
ClinVar
0
0
0
118
4
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
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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 :
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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 :
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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 IRK-2
SYNONYM IRK2
SYNONYM KCNJN1
SYNONYM Kir2.2
SYNONYM hIRK
SYNONYM hIRK1
SYNONYM hkir2.2x
SYNONYM kcnj12x
MIM 602323 OMIM
HGNC HGNC:6258 HGNC
Ensembl ENSG00000184185 Ensembl
AllianceGenome HGNC:6258
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000331718.5 hg38 chr17 21,405,136 21,417,170 12,035
ENST00000583088.6 hg38 chr17 21,376,357 21,419,870 43,514
ENST00000583088.6 hg19 chr17 21,279,669 21,323,182 43,514
ENST00000331718.5 hg19 chr17 21,308,448 21,320,482 12,035
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