SLC6A8 solute carrier family 6 member 8

Information
Symbol
SLC6A8
Type
protein-coding
Description
solute carrier family 6 member 8
Entrez Gene ID
6535
Genome
hg19
Position
chrX:152,953,381-152,962,043
Genome
hg38
Position
chrX:153,687,926-153,696,588
MIM
300036 OMIM
HGNC
HGNC:11055 HGNC
Ensembl
ENSG00000130821 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 166
Likely pathogenic 0 106
Benign 0 222
Likely benign 0 1,096
Conflicting classifications of pathogenicity 0 64
not provided 6 4
Uncertain significance 0 462
Ranking
ClinVar
0
206
310
1,408
12
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 CCDS1
SYNONYM CRT
SYNONYM CRT-1
SYNONYM CRT1
SYNONYM CRTR
SYNONYM CT1
SYNONYM CTR5
MIM 300036 OMIM
HGNC HGNC:11055 HGNC
Ensembl ENSG00000130821 Ensembl
AllianceGenome HGNC:11055
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000253122.10 hg38 chrX 153,687,926 153,696,588 8,663
ENST00000430077.6 hg38 chrX 153,689,467 153,695,327 5,861
ENST00000253122.10 hg19 chrX 152,953,381 152,962,043 8,663
ENST00000430077.6 hg19 chrX 152,954,922 152,960,782 5,861
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