C__11370584_10

SNP ID:

rs9983174

Gene

ITGB2 ITGB2-AS1 LINC01547

Gene Name

integrin subunit beta 2

ITGB2 antisense RNA 1

long intergenic non-protein coding RNA 1547

Set Membership:

-

Chromosome Location:

Chr.21: 44929116 - 44929116 on Build GRCh38

Polymorphism:

C/T, Transition substitution

Context Sequence [VIC/FAM]:

CCTCCATCAAATCTAATGACCCGCC[C/T]TGTCTCTGAACACACCTGTGTTGTC

Assay Details

Species:	Human
dbSNP Submissions:	NA
Phenotype:	MIM: 600065
Literature Links:	ITGB2 PubMed Links
Allele Nomenclature:
Minor Allele Frequency:

1000Genome	Applied Biosystems^®	HapMap
Global T (0.47) (0.53)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS C (0.34) (0.66)	African American - Not Available	YRI (Yoruba) - Not Available
SAS C (0.31) (0.69)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR T (0.11) (0.89)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR C (0.44) (0.56)
AMR T (0.45) (0.55)

ITGB2 - integrin subunit beta 2
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_000211.4		Intron			NP_000202.3
NM_001127491.2		Intron			NP_001120963.2
NM_001303238.1		Intron			NP_001290167.1
XM_006724001.1		Intron			XP_006724064.1
XM_017028341.1		Intron			XP_016883830.1

ITGB2-AS1 - ITGB2 antisense RNA 1
There are no transcripts associated with this gene.

LINC01547 - long intergenic non-protein coding RNA 1547
There are no transcripts associated with this gene.

More Information

Panther Classification:

Molecular Function -

integrin

Gene Ontology Categories:

Process(es)

leukocyte migration involved in inflammatory response
phagocytosis
apoptotic process
inflammatory response
cell adhesion
leukocyte cell-cell adhesion
cell-matrix adhesion
integrin-mediated signaling pathway
cell-cell signaling
aging
regulation of cell shape
natural killer cell activation
extracellular matrix organization
neutrophil chemotaxis
receptor internalization
heterotypic cell-cell adhesion
toll-like receptor 4 signaling pathway
endodermal cell differentiation
receptor clustering
endothelial cell migration
cellular extravasation
positive regulation of nitric oxide biosynthetic process
positive regulation of angiogenesis
regulation of peptidyl-tyrosine phosphorylation
regulation of immune response
leukocyte migration
positive regulation of NF-kappaB transcription factor activity
cellular response to low-density lipoprotein particle stimulus

Function(s)

glycoprotein binding
protein binding
protein kinase binding
ICAM-3 receptor activity
protein complex binding
metal ion binding
protein heterodimerization activity
cell adhesion molecule binding