chr12:46602909:C>T Detail (hg19) (SLC38A1)

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

Genome

Assembly	Position
hg19	chr12:46,602,909-46,602,909
hg38	chr12:46,209,126-46,209,126 View the variant detail on this assembly version.

HGVS

SLC38A1

Type	Transcript	Protein
RefSeq	NM_001077484.1:c.316G>A	NP_001070952.1:p.Val106Ile
	NM_001278389.1:c.316G>A	NP_001265318.1:p.Val106Ile
	NM_030674.3:c.316G>A	NP_109599.3:p.Val106Ile
	NM_001278388.1:c.316G>A	NP_001265317.1:p.Val106Ile
	NM_001278390.1:c.316G>A	NP_001265319.1:p.Val106Ile
	NM_001278387.1:c.316G>A	NP_001265316.1:p.Val106Ile
Ensemble	ENST00000398637.10:c.316G>A	ENST00000398637.10:p.Val106Ile
	ENST00000549049.5:c.316G>A	ENST00000549049.5:p.Val106Ile
	ENST00000552197.5:c.316G>A	ENST00000552197.5:p.Val106Ile
	ENST00000546893.5:c.316G>A	ENST00000546893.5:p.Val106Ile
	ENST00000612161.4:c.316G>A	ENST00000612161.4:p.Val106Ile
	ENST00000439706.5:c.316G>A	ENST00000439706.5:p.Val106Ile

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

SLC38A1

Type	Database	ID	Link
Gene	MIM	608490	OMIM
	HGNC	13447	HGNC
	Ensembl	ENSG00000111371	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
0.094	colorectal cancer	We conducted a family-based case-control study to investigate the association be...	BeFree	21618522	Detail
0.051	colorectal carcinoma	We conducted a family-based case-control study to investigate the association be...	BeFree	21618522	Detail
0.003	colorectal carcinoma	We conducted a family-based case-control study to investigate the association be...	BeFree	21618522	Detail
0.010	colorectal cancer	We conducted a family-based case-control study to investigate the association be...	BeFree	21618522	Detail
0.030	colorectal cancer	We conducted a family-based case-control study to investigate the association be...	BeFree	21618522	Detail
0.010	colorectal carcinoma	We conducted a family-based case-control study to investigate the association be...	BeFree	21618522	Detail

Annotation

Annotations

Descrption	Source	Links
We conducted a family-based case-control study to investigate the association between polymorphisms ...	DisGeNET	Detail
We conducted a family-based case-control study to investigate the association between polymorphisms ...	DisGeNET	Detail
We conducted a family-based case-control study to investigate the association between polymorphisms ...	DisGeNET	Detail
We conducted a family-based case-control study to investigate the association between polymorphisms ...	DisGeNET	Detail
We conducted a family-based case-control study to investigate the association between polymorphisms ...	DisGeNET	Detail
We conducted a family-based case-control study to investigate the association between polymorphisms ...	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: hg19
Position: chr12:46,602,909-46,602,909
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8292
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): 115180
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): 8.682062858135093E-6

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