chr8:117172545:G>C Detail (hg38) (SLC30A8)

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

Genome

Assembly	Position
hg19	chr8:118,184,784-118,184,784 View the variant detail on this assembly version.
hg38	chr8:117,172,545-117,172,545

HGVS

SLC30A8

Type	Transcript	Protein
RefSeq	NM_001172813.1:c.827G>C	NP_001166284.1:p.Arg276Pro
	NM_001172815.2:c.827G>C	NP_001166286.1:p.Arg276Pro
	NM_173851.2:c.974G>C	NP_776250.2:p.Arg325Pro
	NM_001172814.1:c.827G>C	NP_001166285.1:p.Arg276Pro
	NM_001172811.1:c.827G>C	NP_001166282.1:p.Arg276Pro
Ensemble	ENST00000427715.2:c.827G>C	ENST00000427715.2:p.Arg276Pro
	ENST00000456015.7:c.974G>C	ENST00000456015.7:p.Arg325Pro
	ENST00000519688.5:c.827G>C	ENST00000519688.5:p.Arg276Pro
	ENST00000521243.5:c.827G>C	ENST00000521243.5:p.Arg276Pro

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

SLC30A8

Type	Database	ID	Link
Gene	MIM	611145	OMIM
	HGNC	20303	HGNC
	Ensembl	ENSG00000164756	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
0.340	Diabetes Mellitus, Non-Insulin-Dependent	Association analysis of SLC30A8 rs13266634 and rs16889462 polymorphisms with typ...	BeFree	20809084	Detail

Annotation

Annotations

Descrption	Source	Links
Association analysis of SLC30A8 rs13266634 and rs16889462 polymorphisms with type 2 diabetes mellitu...	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: chr8:117,172,545-117,172,545
Variant Type: snv
Reference Allele: G
Alternative Allele: C
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
East Asian Chromosome Counts (ExAC): 8630
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121278
Allele Frequency in All Race (ExAC): 2.473655568198684E-5

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