C_386405973_10

SNP ID:

rs775127337

Gene

C4orf47 UFSP2

Gene Name

chromosome 4 open reading frame 47

UFM1 specific peptidase 2

Set Membership:

-

Chromosome Location:

Chr.4: 185423773 - 185423773 on Build GRCh38

Polymorphism:

C/A, Transversion substitution

Context Sequence [VIC/FAM]:

CATTGTTTGTGTACACATATATACA[C/A]ACACAGATACACATATTCATACATA

Assay Details

Species:	Human
dbSNP Submissions:	NA
Phenotype:	MIM: 611482
Literature Links:	C4orf47 PubMed Links
Allele Nomenclature:
Minor Allele Frequency:

1000Genome	Applied Biosystems^®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

C4orf47 - chromosome 4 open reading frame 47
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_001114357.1		Intron			NP_001107829.1
XM_005263019.3		Intron			XP_005263076.1
XM_011531989.2		Intron			XP_011530291.1
XM_017008236.1		Intron			XP_016863725.1
XM_017008237.1		Intron			XP_016863726.1
XM_017008238.1		Intron			XP_016863727.1
XM_017008239.1		Intron			XP_016863728.1
XM_017008240.1		Intron			XP_016863729.1
XM_017008241.1		Intron			XP_016863730.1
XM_017008242.1		Intron			XP_016863731.1

UFSP2 - UFM1 specific peptidase 2
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_018359.3		Intron			NP_060829.2

More Information

Gene Ontology Categories:

Process(es)

proteolysis
regulation of intracellular estrogen receptor signaling pathway

Function(s)

protein binding
thiolester hydrolase activity
UFM1 hydrolase activity