Variant Details for SLC6A4
Basic Information Top
| Gene Symbol: | SLC6A4 ( 5-HTT,5-HTTLPR,5HTT,HTT,OCD1,SERT,hSERT ) |
|---|---|
| Gene Full Name: | solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 |
| Band: | 17q11.2 |
| Quick Links | Entrez ID:6532; OMIM: 182138; Uniprot ID:SC6A4_HUMAN; ENSEMBL ID: ENSG00000108576; HGNC ID: 11050 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 0 | 3 | 0 | 0 | 13 | 6 | 22 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
NGS de novo Mutations TopiFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
| Chr | Pos | Ref | Alt | Coding | AA | Validated Method | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 17 | 28544289 | C | G | c.732G>C | p.Gly244Gly | Sanger sequencing | Neale BM, 2012 | ||
| 17 | 28530282 | T | C | Sanger sequencing | neutral | 0.037 | De Rubeis S, 2014 | ||
| 17 | 28544289 | C | G | Sanger sequencing | De Rubeis S, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| No related data! | ||||||
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Anderson, 2002 | |||||||||
| Sutcliffe, 2005 | |||||||||
| Sugie, 2005 | |||||||||
| Brune, 2006 | |||||||||
| Wassink, 2007 | |||||||||
| Wendland, 2008 | |||||||||
| Sakurai, 2008 | |||||||||
| Veenstra-Vanderweele, 2009 | |||||||||
| Endo, 2010 | |||||||||
| Arieff, 2010 | |||||||||
| Kistner-Griffin, 2010 | |||||||||
| Adamsen, 2010 | |||||||||
| das Neves, 2011 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| AutLD0000039 | 17q11.2 | 17 | HTTINT2 | 2.34 | - | - | Monaco, 2001 |
| AutLD0000016 | 17q11.2 | 17 | D17S1800 | 2.83 | - | - | Yonan, 2003 |
| AutLD0000008 | 17q11.2 | 17 | D17S1294 | 2.85 | - | - | McCauley, 2005 |
| AutLD0000148 | 17q11.2 | 17 | D17S1800 | 5.82 | 4.88 | 0.000000159 | Sutcliffe, 2005 |
| AutLD0000108 | 17q11.2 | 17 | D17S1294 | - | 2.39 | - | Ylisaukko-oja, 2006 |
| AutLD0000118 | 17q11.2 | 17 | - | - | 2.1 | - | Spence, 2006 |