SLC17A8 solute carrier family 17 member 8

Information
Symbol
SLC17A8
Type
protein-coding
Description
solute carrier family 17 member 8
Entrez Gene ID
246213
Genome
hg19
Position
chr12:100,750,852-100,815,833
Genome
hg38
Position
chr12:100,357,074-100,422,055
MIM
607557 OMIM
HGNC
HGNC:20151 HGNC
Ensembl
ENSG00000179520 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 8
Benign 8 84
Likely benign 0 138
Conflicting classifications of pathogenicity 0 20
Uncertain significance 0 296
Ranking
ClinVar
0
0
106
410
2
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 DFNA25
SYNONYM VGLUT3
MIM 607557 OMIM
HGNC HGNC:20151 HGNC
Ensembl ENSG00000179520 Ensembl
AllianceGenome HGNC:20151
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000392989.3 hg38 chr12 100,357,368 100,420,252 62,885
ENST00000323346.10 hg38 chr12 100,357,074 100,422,055 64,982
ENST00000323346.10 hg19 chr12 100,750,852 100,815,833 64,982
ENST00000392989.3 hg19 chr12 100,751,146 100,814,030 62,885
Genome browser