C_105405873_10

• SNP ID: rs79029978
• Gene: NUMA1
• Gene Name: nuclear mitotic apparatus protein 1
• Set Membership: -
• Chromosome Location: Chr.11: 72045809 - 72045809 on Build GRCh38
• Polymorphism: A/T, Transversion substitution
• Context Sequence [VIC/FAM]:

  ACTTAATTTAAAGACTGGCATTATC[A/T]ATGCTCCAGAAAATGTATAAGGTGA

Assay Details

Species:	Human
dbSNP Submissions:	NA
Phenotype:	MIM: 164009
Literature Links:	NUMA1 PubMed Links
Allele Nomenclature:
Minor Allele Frequency:

1000Genome	Applied Biosystems^®	HapMap
Global T (0.02) (0.98)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS T (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS T (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR T (0.09) (0.91)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR T (0.00) (1.00)
AMR T (0.01) (0.99)

NUMA1 - nuclear mitotic apparatus protein 1
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_001286561.1		Intron			NP_001273490.1
NM_006185.3		Intron			NP_006176.2
XM_006718564.1		Intron			XP_006718627.1
XM_011545054.1		Intron			XP_011543356.1
XM_011545055.1		Intron			XP_011543357.1
XM_011545056.2		Intron			XP_011543358.1
XM_011545057.2		Intron			XP_011543359.1
XM_011545058.1		Intron			XP_011543360.1
XM_011545059.2		Intron			XP_011543361.1
XM_011545060.2		Intron			XP_011543362.1
XM_011545061.2		Intron			XP_011543363.1
XM_011545062.2		Intron			XP_011543364.1
XM_011545063.2		Intron			XP_011543365.1
XM_011545064.1		Intron			XP_011543366.1
XM_011545065.1		Intron			XP_011543367.1
XM_011545066.1		Intron			XP_011543368.1
XM_017017830.1		Intron			XP_016873319.1
XM_017017831.1		Intron			XP_016873320.1

More Information

Panther Classification:

Molecular Function -

cytoskeletal protein, microtubule or microtubule-binding cytoskeletal protein

Gene Ontology Categories:

Process(es)

establishment of mitotic spindle orientation
nucleus organization
mitotic nuclear division
cell division
meiotic cell cycle
lung epithelial cell differentiation

Function(s)

structural molecule activity
protein binding
microtubule binding