chr16:55699647:T>G Detail (hg38) (SLC6A2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr16:55,733,559-55,733,559 View the variant detail on this assembly version.
hg38	chr16:55,699,647-55,699,647

HGVS

SLC6A2

Type	Transcript	Protein
RefSeq	NM_001172504.1:c.1583T>G	NP_001165975.1:p.Phe528Cys
	NM_001043.3:c.1583T>G	NP_001034.1:p.Phe528Cys
	NM_001172502.1:c.1268T>G	NP_001165973.1:p.Phe423Cys
	NM_001172501.1:c.1583T>G	NP_001165972.1:p.Phe528Cys
Ensemble	ENST00000219833.13:c.1583T>G	ENST00000219833.13:p.Phe528Cys
	ENST00000379906.6:c.1583T>G	ENST00000379906.6:p.Phe528Cys
	ENST00000414754.7:c.1583T>G	ENST00000414754.7:p.Phe528Cys
	ENST00000561820.5:c.1583T>G	ENST00000561820.5:p.Phe528Cys
	ENST00000566163.5:c.1448T>G	ENST00000566163.5:p.Phe483Cys
	ENST00000567238.1:c.1268T>G	ENST00000567238.1:p.Phe423Cys
	ENST00000568943.6:c.1583T>G	ENST00000568943.6:p.Phe528Cys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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Links

SLC6A2

Type	Database	ID	Link
Gene	MIM	163970	OMIM
	HGNC	11048	HGNC
	Ensembl	ENSG00000103546	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.019	Mental Depression	In conclusion, our results favor the hypothesis that monoaminergic neurotransmis...	BeFree	19105200	Detail
0.083	depressive disorder	In conclusion, our results favor the hypothesis that monoaminergic neurotransmis...	BeFree	19105200	Detail
0.052	Mental Depression	In conclusion, our results favor the hypothesis that monoaminergic neurotransmis...	BeFree	19105200	Detail
0.011	depressive disorder	In conclusion, our results favor the hypothesis that monoaminergic neurotransmis...	BeFree	19105200	Detail

Annotation

Annotations

Descrption	Source	Links
In conclusion, our results favor the hypothesis that monoaminergic neurotransmission in general and ...	DisGeNET	Detail
In conclusion, our results favor the hypothesis that monoaminergic neurotransmission in general and ...	DisGeNET	Detail
In conclusion, our results favor the hypothesis that monoaminergic neurotransmission in general and ...	DisGeNET	Detail
In conclusion, our results favor the hypothesis that monoaminergic neurotransmission in general and ...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs5558 dbSNP
Genome: hg38
Position: chr16:55,699,647-55,699,647
Variant Type: snv
Reference Allele: T
Alternative Allele: G

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