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Gene id 6570
Gene Summary     SNPs    KEGG pathways    Diseases    PubMed    

Gene Summary

Gene Symbol SLC18A1   Gene   UCSC   Ensembl
Aliases CGAT, VAT1, VMAT1
Gene name solute carrier family 18 member A1
Alternate names chromaffin granule amine transporter, solute carrier family 18 (vesicular monoamine transporter), member 1, solute carrier family 18 (vesicular monoamine), member 1, solute carrier family 18 member 1, vesicular amine transporter 1,
Gene location 8p21.3 (20183205: 20144854)     Exons: 17     NC_000007.14
Gene summary(Entrez) The vesicular monoamine transporter acts to accumulate cytosolic monoamines into vesicles, using the proton gradient maintained across the vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have
OMIM 193002

SNPs


rs2270641

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.20180955T>C
NC_000008.11   g.20180955T>G
NC_000008.10   g.20038466T>C
NC_000008.10   g.20038466T>G
NM_003053.4   c.10A>G
NM_003053.4   c.10A>C
NM_003053.3   c.10A>G
NM_003053.3   c.10A>C
NM_001135691.2   c.10A>G
NM_001135691.2   c.10A>C
NM_001142324.1   c

rs1390938

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.20179202A>G
NC_000008.10   g.20036713A>G
NM_003053.4   c.407T>C
NM_003053.3   c.407T>C
NM_001135691.2   c.407T>C
NM_001142324.1   c.407T>C
NM_001142324.2   c.407T>C
NM_001142325.1   c.407T>C
XM_011544625.1   c.407T>C
XM_011544626.1   c.407T>C
NP_003044.  

KEGG pathways

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Pathway idPathway name
hsa04728Dopaminergic synapse
hsa04726Serotonergic synapse
hsa04721Synaptic vesicle cycle
hsa05012Parkinson disease
hsa05030Cocaine addiction
hsa05031Amphetamine addiction
hsa05034Alcoholism
hsa04728Dopaminergic synapse
hsa05012Parkinson disease
hsa04721Synaptic vesicle cycle
hsa05031Amphetamine addiction
hsa05034Alcoholism
hsa04726Serotonergic synapse
hsa05030Cocaine addiction
Associated diseases References
Bulimia GAD: 20468064
Major depressive disorder GAD: 20038947
Bipolar disorder GAD: 16936705
Schizophrenia GAD: 17134514
Asthenozoospermia MIK: 29602729
Asthenozoospermia MIK: 29602729
Male infertility MIK: 29602729

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
29602729 Asthenozoo
spermia, M
ale infert
ility
rs1390938, rs2270641
285 (182 normos
permia, 103 ast
henozoospermia)
Male infertility
Show abstract