C_102912475_10

SNP ID:

rs80239630

Gene

ANKRD37 C4orf47 LRP2BP UFSP2

Gene Name

ankyrin repeat domain 37

chromosome 4 open reading frame 47

LRP2 binding protein

UFM1 specific peptidase 2

Set Membership:

-

Chromosome Location:

Chr.4: 185402507 - 185402507 on Build GRCh38

Polymorphism:

C/A, Transversion substitution

Context Sequence [VIC/FAM]:

AACTTTTTTTTGAGCTGGAATTTCA[C/A]TCCTGTTGCCCAGGCTGGGGTGCAA

Assay Details

Species:	Human
dbSNP Submissions:	NA
Phenotype:	MIM: 611482
Literature Links:	ANKRD37 PubMed Links
Allele Nomenclature:
Minor Allele Frequency:

1000Genome	Applied Biosystems^®	HapMap
Global A (0.04) (0.96)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS A (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS A (0.08) (0.92)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR A (0.03) (0.97)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR A (0.05) (0.95)
AMR A (0.05) (0.95)

ANKRD37 - ankyrin repeat domain 37
There are no transcripts associated with this gene.

C4orf47 - chromosome 4 open reading frame 47
There are no transcripts associated with this gene.

LRP2BP - LRP2 binding protein
There are no transcripts associated with this gene.

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