C__30837563_10

• SNP ID: rs12592521
• Gene: AGBL1
• Gene Name: ATP/GTP binding protein like 1
• Set Membership: -
• Chromosome Location: Chr.15: 86727974 - 86727974 on Build GRCh38
• Polymorphism: T/C, Transition substitution
• Context Sequence [VIC/FAM]:

  ACTGTGTACCCATAAGCAAAGCTTT[T/C]GCAATAGGCAAGTTCCTTGATCTCC

Assay Details

Species:	Human
dbSNP Submissions:	NA
Phenotype:	MIM: 615496
Literature Links:	AGBL1 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 (0.08) (0.92)	African American - Not Available	YRI (Yoruba) - Not Available
SAS C (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR C (0.00) (1.00)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR C (0.00) (1.00)
AMR C (0.00) (1.00)

AGBL1 - ATP/GTP binding protein like 1
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
XM_011521226.2		Intron			XP_011519528.1
XM_011521227.2		Intron			XP_011519529.1
XM_011521228.2		Intron			XP_011519530.1
XM_011521230.2		Intron			XP_011519532.1
XM_017021918.1		Intron			XP_016877407.1
XM_017021919.1		Intron			XP_016877408.1
XM_017021920.1		Intron			XP_016877409.1
XM_017021921.1		Intron			XP_016877410.1

More Information

Panther Classification:

Molecular Function -

metalloprotease

Gene Ontology Categories:

Process(es)

proteolysis
C-terminal protein deglutamylation
protein side chain deglutamylation

Function(s)

metallocarboxypeptidase activity
zinc ion binding
tubulin binding