SLC16A2 solute carrier family 16 member 2

Information
Symbol
SLC16A2
Type
protein-coding
Description
solute carrier family 16 member 2
Entrez Gene ID
6567
Genome
hg19
Position
chrX:73,641,328-73,753,751
Genome
hg38
Position
chrX:74,421,493-74,533,916
MIM
300095 OMIM
HGNC
HGNC:10923 HGNC
Ensembl
ENSG00000147100 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 5 116
Likely pathogenic 2 62
Benign 0 58
Likely benign 2 156
Conflicting classifications of pathogenicity 0 30
not provided 6 2
Uncertain significance 0 255
Ranking
ClinVar
0
0
82
509
24
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 AHDS
SYNONYM DXS128
SYNONYM DXS128E
SYNONYM MCT 7
SYNONYM MCT 8
SYNONYM MCT7
SYNONYM MCT8
SYNONYM MRX22
SYNONYM XPCT
MIM 300095 OMIM
HGNC HGNC:10923 HGNC
Ensembl ENSG00000147100 Ensembl
AllianceGenome HGNC:10923
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000587091.6 hg38 chrX 74,421,493 74,533,916 112,424
ENST00000587091.6 hg19 chrX 73,641,328 73,753,751 112,424
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