chr1:169673838:G>T Detail (hg19) (SELL)

Information

Genome

Assembly Position
hg19 chr1:169,673,838-169,673,838
hg38 chr1:169,704,697-169,704,697 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000655.4:c.637C>A NP_000646.2:p.Pro213Thr
NR_029467.1:c.637C>A
Ensemble ENST00000650983.1:c.676C>A ENST00000650983.1:p.Pro226Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 153240 OMIM
HGNC 10720 HGNC
Ensembl ENSG00000188404 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
0.003 Kidney Failure, Chronic Investigation of P213S SELL gene polymorphism in type 2 diabetes mellitus and re... BeFree 22119815 Detail
0.002 borderline personality disorder Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhes... BeFree 17726703 Detail
<0.001 bronchopulmonary dysplasia Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhes... BeFree 17726703 Detail
0.001 bronchopulmonary dysplasia Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhes... BeFree 17726703 Detail
<0.001 borderline personality disorder Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhes... BeFree 17726703 Detail
0.009 bronchopulmonary dysplasia Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhes... BeFree 17726703 Detail
0.006 Diabetes Mellitus, Non-Insulin-Dependent Investigation of P213S SELL gene polymorphism in type 2 diabetes mellitus and re... BeFree 22119815 Detail
0.006 Diabetes Mellitus, Non-Insulin-Dependent Association of P213S polymorphism of the L-selectin gene with type 2 diabetes an... BeFree 22921892 Detail
0.001 Chronic graft-versus-host disease We evaluated the association of 4 SNPs in ICAM1 (rs5498), PECAM1 (rs668 and rs11... BeFree 22646485 Detail
Annotation

Annotations

DescrptionSourceLinks
Investigation of P213S SELL gene polymorphism in type 2 diabetes mellitus and related end stage rena... DisGeNET Detail
Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhesion molecules (L-sel... DisGeNET Detail
Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhesion molecules (L-sel... DisGeNET Detail
Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhesion molecules (L-sel... DisGeNET Detail
Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhesion molecules (L-sel... DisGeNET Detail
Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhesion molecules (L-sel... DisGeNET Detail
Investigation of P213S SELL gene polymorphism in type 2 diabetes mellitus and related end stage rena... DisGeNET Detail
Association of P213S polymorphism of the L-selectin gene with type 2 diabetes and insulin resistance... DisGeNET Detail
We evaluated the association of 4 SNPs in ICAM1 (rs5498), PECAM1 (rs668 and rs1131012) and SELL (rs2... 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
rs2229569 dbSNP
Genome
hg19
Position
chr1:169,673,838-169,673,838
Variant Type
snv
Reference Allele
G
Alternative Allele
T
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