chr16:55697923:G>C 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	chr16:55,731,835-55,731,835 View the variant detail on this assembly version.
hg38	chr16:55,697,923-55,697,923

HGVS

SLC6A2

Type	Transcript	Protein
RefSeq	NM_001172504.1:c.1287G>C	NP_001165975.1:p.Thr429=
	NM_001043.3:c.1287G>C	NP_001034.1:p.Thr429=
	NM_001172502.1:c.972G>C	NP_001165973.1:p.Thr324=
	NM_001172501.1:c.1287G>C	NP_001165972.1:p.Thr429=
Ensemble	ENST00000219833.13:c.1287G>C	ENST00000219833.13:p.Thr429=
	ENST00000379906.6:c.1287G>C	ENST00000379906.6:p.Thr429=
	ENST00000414754.7:c.1287G>C	ENST00000414754.7:p.Thr429=
	ENST00000561820.5:c.1287G>C	ENST00000561820.5:p.Thr429=
	ENST00000566163.5:c.1152G>C	ENST00000566163.5:p.Thr384=
	ENST00000567238.1:c.972G>C	ENST00000567238.1:p.Thr324=
	ENST00000568943.6:c.1287G>C	ENST00000568943.6:p.Thr429=

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

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
0.011	Unipolar Depression	In self-identified white patients with major depressive disorder (N=126) treated...	BeFree	22727709	Detail
0.040	major depressive disorder	In self-identified white patients with major depressive disorder (N=126) treated...	BeFree	22727709	Detail
0.038	Mental Depression	In self-identified white patients with major depressive disorder (N=126) treated...	BeFree	22727709	Detail
0.009	depressive disorder	In self-identified white patients with major depressive disorder (N=126) treated...	BeFree	22727709	Detail
0.016	major depressive disorder	In self-identified white patients with major depressive disorder (N=126) treated...	BeFree	22727709	Detail
0.008	Unipolar Depression	In self-identified white patients with major depressive disorder (N=126) treated...	BeFree	22727709	Detail
0.005	Unipolar Depression	In self-identified white patients with major depressive disorder (N=126) treated...	BeFree	22727709	Detail
0.014	major depressive disorder	In self-identified white patients with major depressive disorder (N=126) treated...	BeFree	22727709	Detail
0.005	Unipolar Depression	Different combinations of T-182C and the G1287A polymorphisms of NET gene might ...	BeFree	26061302	Detail
0.014	major depressive disorder	Different combinations of T-182C and the G1287A polymorphisms of NET gene might ...	BeFree	26061302	Detail
0.005	Unipolar Depression	Association between major depressive disorder and the norepinephrine transporter...	BeFree	23648227	Detail
0.014	major depressive disorder	Association between major depressive disorder and the norepinephrine transporter...	BeFree	23648227	Detail
0.043	attention deficit hyperactivity disorder	The 1287 G/A polymorphism of the norepinephrine transporter gene (NET) is involv...	BeFree	21569456	Detail
0.128	Hypertensive disease	A silent G1287A nucleotide substitution in exon 9 of the NET gene was studied in...	BeFree	17124432	Detail
0.043	attention deficit hyperactivity disorder	Regional brain perfusion before and after treatment with methylphenidate may be ...	BeFree	22405810	Detail
0.005	Unipolar Depression	No association of the G1287A polymorphism in the norepinephrine transporter gene...	BeFree	17917281	Detail
0.043	attention deficit hyperactivity disorder	Additive regression analyses controlling for ADHD symptom severity, age, sex, IQ...	BeFree	23609393	Detail
0.014	major depressive disorder	No association of the G1287A polymorphism in the norepinephrine transporter gene...	BeFree	17917281	Detail

Annotation

Annotations

Descrption	Source	Links
In self-identified white patients with major depressive disorder (N=126) treated with open-label dul...	DisGeNET	Detail
In self-identified white patients with major depressive disorder (N=126) treated with open-label dul...	DisGeNET	Detail
In self-identified white patients with major depressive disorder (N=126) treated with open-label dul...	DisGeNET	Detail
In self-identified white patients with major depressive disorder (N=126) treated with open-label dul...	DisGeNET	Detail
In self-identified white patients with major depressive disorder (N=126) treated with open-label dul...	DisGeNET	Detail
In self-identified white patients with major depressive disorder (N=126) treated with open-label dul...	DisGeNET	Detail
In self-identified white patients with major depressive disorder (N=126) treated with open-label dul...	DisGeNET	Detail
In self-identified white patients with major depressive disorder (N=126) treated with open-label dul...	DisGeNET	Detail
Different combinations of T-182C and the G1287A polymorphisms of NET gene might increase morbidity r...	DisGeNET	Detail
Different combinations of T-182C and the G1287A polymorphisms of NET gene might increase morbidity r...	DisGeNET	Detail
Association between major depressive disorder and the norepinephrine transporter polymorphisms T-182...	DisGeNET	Detail
Association between major depressive disorder and the norepinephrine transporter polymorphisms T-182...	DisGeNET	Detail
The 1287 G/A polymorphism of the norepinephrine transporter gene (NET) is involved in commission err...	DisGeNET	Detail
A silent G1287A nucleotide substitution in exon 9 of the NET gene was studied in human conditions in...	DisGeNET	Detail
Regional brain perfusion before and after treatment with methylphenidate may be associated with the ...	DisGeNET	Detail
No association of the G1287A polymorphism in the norepinephrine transporter gene and susceptibility ...	DisGeNET	Detail
Additive regression analyses controlling for ADHD symptom severity, age, sex, IQ, and final dose of ...	DisGeNET	Detail
No association of the G1287A polymorphism in the norepinephrine transporter gene and susceptibility ...	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: -
Genome: hg38
Position: chr16:55,697,923-55,697,923
Variant Type: snv
Reference Allele: G
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8630
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.1587485515643106E-4
Chromosome Counts in All Race (ExAC): 121276
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.24565454005739E-6

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