C___2204362_10

SNP ID:

rs9975588

Gene

MCM3AP YBEY

Gene Name

minichromosome maintenance complex component 3 associated protein

ybeY metallopeptidase (putative)

Set Membership:

> HapMap > Validated

Chromosome Location:

Chr.21: 46284982 - 46284982 on Build GRCh38

Polymorphism:

A/G, Transition substitution

Context Sequence [VIC/FAM]:

AAATCCTGTGTTTCCCAGCACAGAT[A/G]AACTTGAAGGCCCAGAGGTAGCCAC

Assay Details

Species:	Human
dbSNP Submissions:	NA
Phenotype:	MIM: 603294
Literature Links:	MCM3AP PubMed Links
Allele Nomenclature:
Minor Allele Frequency:

1000Genome	Applied Biosystems^®	HapMap
Global A (0.25) (0.75)	Caucasian A (0.38) (0.62)	CEPH (CEU) A (0.45) (0.55)
EAS A (0.15) (0.85)	African American A (0.21) (0.79)	YRI (Yoruba) A (0.19) (0.81)
SAS A (0.27) (0.73)	Japanese A (0.09) (0.91)	JPT (Japanese) A (0.12) (0.88)
AFR A (0.20) (0.80)	Chinese A (0.20) (0.80)	CHB (Han Chinese) A (0.08) (0.92)
EUR A (0.41) (0.59)
AMR A (0.23) (0.77)

MCM3AP - minichromosome maintenance complex component 3 associated protein
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_003906.4	885	Missense Mutation	TCA,TTA	S,L 102	NP_003897.2
XM_005261203.4	885	Missense Mutation	TCA,TTA	S,L 102	XP_005261260.1
XM_005261204.4	885	Missense Mutation	TCA,TTA	S,L 102	XP_005261261.1
XM_005261205.3	885	Missense Mutation	TCA,TTA	S,L 102	XP_005261262.1

YBEY - ybeY metallopeptidase (putative)
There are no transcripts associated with this gene.

More Information

• Set Membership: HapMap, Validated

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

immune system process
DNA replication
protein import into nucleus
mRNA transport

Function(s)

nucleotide binding
DNA binding
transferase activity, transferring acyl groups