C___3270940_10

• SNP ID: rs9637172
• Gene: MCM3AP
• Gene Name: minichromosome maintenance complex component 3 associated protein
• Set Membership: > Validated
• Chromosome Location: Chr.21: 46265873 - 46265873 on Build GRCh38
• Polymorphism: C/T, Transition substitution
• Context Sequence [VIC/FAM]:

  AGATGCCCAGGCTCCTGGGAGGCGT[C/T]CTGGTGGGAAAATGCAGCTAGTCCC

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 (0.37) (0.63)	Caucasian T (0.49) (0.51)	CEPH (CEU) - Not Available
EAS C (0.28) (0.72)	African American C (0.27) (0.73)	YRI (Yoruba) - Not Available
SAS C (0.39) (0.61)	Japanese C (0.19) (0.81)	CHB (Han Chinese) - Not Available
AFR C (0.29) (0.71)	Chinese C (0.27) (0.73)	JPT (Japanese) - Not Available
EUR C (0.43) (0.57)
AMR T (0.49) (0.51)

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: 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