C__22274991_10

SNP ID:

rs7551263

Gene

CHI3L1 MYBPH

Gene Name

chitinase 3 like 1

myosin binding protein H

Set Membership:

> HapMap

Chromosome Location:

Chr.1: 203181628 - 203181628 on Build GRCh38

Polymorphism:

C/T, Transition substitution

Context Sequence [VIC/FAM]:

TCAAAAAAAAGTAAGAAAGAAAAGC[C/T]TTTGGGCTCCTATTTAAGGCTCCAG

Assay Details

Species:	Human
dbSNP Submissions:	30 submissions
Phenotype:	MIM: 601525 MIM: 160795
Literature Links:	CHI3L1 PubMed Links
Allele Nomenclature:
Minor Allele Frequency:

1000Genome	Applied Biosystems^®	HapMap
Global C (0.36) (0.64)	Caucasian - Not Available	CEPH (CEU) C (0.21) (0.79)
EAS C (0.44) (0.56)	African American - Not Available	YRI (Yoruba) T (0.48) (0.52)
SAS C (0.24) (0.76)	Chinese - Not Available	JPT (Japanese) T (0.50) (0.50)
AFR T (0.46) (0.54)	Japanese - Not Available	CHB (Han Chinese) C (0.37) (0.63)
EUR C (0.17) (0.83)
AMR C (0.34) (0.66)

CHI3L1 - chitinase 3 like 1
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_001276.2		Intron			NP_001267.2

MYBPH - myosin binding protein H
There are no transcripts associated with this gene.

More Information

• Set Membership: HapMap

Panther Classification:

Molecular Function -

glycosidase

Gene Ontology Categories:

Process(es)

carbohydrate metabolic process
chitin catabolic process
apoptotic process
inflammatory response
activation of NF-kappaB-inducing kinase activity
response to mechanical stimulus
positive regulation of peptidyl-threonine phosphorylation
lung development
response to tumor necrosis factor
positive regulation of angiogenesis
cartilage development
positive regulation of protein kinase B signaling
positive regulation of ERK1 and ERK2 cascade
response to interleukin-1
response to interleukin-6
cellular response to interleukin-1
cellular response to tumor necrosis factor
interleukin-8 secretion

Function(s)

chitinase activity
extracellular matrix structural constituent
chitin binding
carbohydrate binding