SLC6A4 solute carrier family 6 member 4

Information
Symbol
SLC6A4
Type
protein-coding
Description
solute carrier family 6 member 4
Entrez Gene ID
6532
Genome
hg19
Position
chr17:28,521,337-28,563,020
Genome
hg38
Position
chr17:30,194,319-30,236,002
MIM
182138 OMIM
HGNC
HGNC:11050 HGNC
Ensembl
ENSG00000108576 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Benign 0 20
Likely benign 0 46
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 198
Ranking
ClinVar
0
0
8
252
0
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
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 5-HTT
SYNONYM 5-HTTLPR
SYNONYM 5HTT
SYNONYM HTT
SYNONYM OCD1
SYNONYM SERT
SYNONYM SERT1
SYNONYM hSERT
MIM 182138 OMIM
HGNC HGNC:11050 HGNC
Ensembl ENSG00000108576 Ensembl
AllianceGenome HGNC:11050
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000650711.1 hg38 chr17 30,194,319 30,235,697 41,379
ENST00000401766.6 hg38 chr17 30,194,319 30,236,002 41,684
ENST00000261707.7 hg38 chr17 30,194,321 30,235,968 41,648
ENST00000650711.1 hg19 chr17 28,521,337 28,562,715 41,379
ENST00000401766.6 hg19 chr17 28,521,337 28,563,020 41,684
ENST00000261707.7 hg19 chr17 28,521,339 28,562,986 41,648
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