C__29326696_10

• SNP ID: rs8130933
• Gene: MCM3AP
• Gene Name: minichromosome maintenance complex component 3 associated protein
• Set Membership: > HapMap
• Chromosome Location: Chr.21: 46270890 - 46270890 on Build GRCh38
• Polymorphism: A/C, Transversion substitution
• Context Sequence [VIC/FAM]:

  CCGTTAAATTCATAGTTTACTAACT[A/C]CCACGCTTGGATTGGTTTGACAAAG

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 C (0.02) (0.98)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS C (0.00) (1.00)	African American - Not Available	YRI (Yoruba) C (0.07) (0.93)
SAS C (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR C (0.06) (0.94)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR C (0.00) (1.00)
AMR C (0.00) (1.00)

MCM3AP - minichromosome maintenance complex component 3 associated protein
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_003906.4		Intron			NP_003897.2
XM_005261203.4		Intron			XP_005261260.1
XM_005261204.4		Intron			XP_005261261.1
XM_005261205.3		Intron			XP_005261262.1

More Information

• Set Membership: HapMap

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