chr5:149345975:A>G Detail (hg19) (SLC26A2)

Go to:

Information

Genome

Assembly	Position
hg19	chr5:149,345,975-149,345,975
hg38	chr5:149,966,412-149,966,412 View the variant detail on this assembly version.

Type	Transcript	Protein
RefSeq	NM_000112.3:c.-26+5433A>G
Ensemble	ENST00000286298.5:c.-26+5433A>G

Summary

Links

Type	Database	ID	Link
Gene	MIM	606718	OMIM
	HGNC	10994	HGNC
	Ensembl	ENSG00000155850	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv23233380	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
<0.001	Ichthyosis bullosa of Siemens	Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13,...	BeFree	24041540	Detail
<0.001	irritable bowel syndrome	Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13,...	BeFree	24041540	Detail

Annotation

Descrption	Source	Links
Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13, rs2104286-IL2RA), o...	DisGeNET	Detail
Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13, rs2104286-IL2RA), o...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs245051 dbSNP
Genome: hg19
Position: chr5:149,345,975-149,345,975
Variant Type: snv
Reference Allele: A
Alternative Allele: G
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): rs245051
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.5725
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 9595
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

Genome browser