SLC5A7 solute carrier family 5 member 7

Information
Symbol
SLC5A7
Type
protein-coding
Description
solute carrier family 5 member 7
Entrez Gene ID
60482
Genome
hg19
Position
chr2:108,602,980-108,630,450
Genome
hg38
Position
chr2:107,986,524-108,013,994
MIM
608761 OMIM
HGNC
HGNC:14025 HGNC
Ensembl
ENSG00000115665 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 18
Benign 0 50
Likely benign 0 364
Conflicting classifications of pathogenicity 0 24
not provided 1 0
Uncertain significance 0 510
Ranking
ClinVar
0
0
120
800
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 CHT
SYNONYM CHT1
SYNONYM CMS20
SYNONYM DHMNVP
SYNONYM HMN7A
SYNONYM HMND7
SYNONYM hCHT1
MIM 608761 OMIM
HGNC HGNC:14025 HGNC
Ensembl ENSG00000115665 Ensembl
AllianceGenome HGNC:14025
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000264047.3 hg38 chr2 107,986,524 108,013,994 27,471
ENST00000409059.5 hg38 chr2 107,986,523 108,010,861 24,339
ENST00000409059.5 hg19 chr2 108,602,979 108,627,317 24,339
ENST00000264047.3 hg19 chr2 108,602,980 108,630,450 27,471
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