C__29080922_10

SNP ID:

rs8057552

Gene

BFAR PARN

Gene Name

bifunctional apoptosis regulator

poly(A)-specific ribonuclease

Set Membership:

> HapMap

Chromosome Location:

Chr.16: 14638180 - 14638180 on Build GRCh38

Polymorphism:

C/G, Transversion substitution

Context Sequence [VIC/FAM]:

AGATGATTGCTTGAGCCCAGGAACT[C/G]GAGACCATCATGGACAACTTAACAA

Assay Details

Species:	Human
dbSNP Submissions:	NA
Phenotype:	MIM: 604212
Literature Links:	BFAR PubMed Links
Allele Nomenclature:
Minor Allele Frequency:

1000Genome	Applied Biosystems^®	HapMap
Global G (0.01) (0.99)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS G (0.00) (1.00)	African American - Not Available	YRI (Yoruba) G (0.02) (0.98)
SAS G (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR G (0.04) (0.96)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR G (0.00) (1.00)
AMR G (0.00) (1.00)

BFAR - bifunctional apoptosis regulator
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_016561.2		Intron			NP_057645.1
XM_005255350.2		Intron			XP_005255407.1
XM_011522520.1		Intron			XP_011520822.1

PARN - poly(A)-specific ribonuclease
There are no transcripts associated with this gene.

More Information

• Set Membership: HapMap

Gene Ontology Categories:

Process(es)

protein polyubiquitination
apoptotic process
protein ubiquitination involved in ubiquitin-dependent protein catabolic process
negative regulation of apoptotic process
proteasome-mediated ubiquitin-dependent protein catabolic process
protein autoubiquitination
protein K63-linked ubiquitination
protein K48-linked ubiquitination
negative regulation of IRE1-mediated unfolded protein response

Function(s)

protein binding
zinc ion binding
protein binding, bridging
ubiquitin protein ligase activity
caspase binding