C_101640397_10

SNP ID:

rs79545080

Gene

ARFGAP2 C11orf49

Gene Name

ADP ribosylation factor GTPase activating protein 2

chromosome 11 open reading frame 49

Set Membership:

-

Chromosome Location:

Chr.11: 47161825 - 47161825 on Build GRCh38

Polymorphism:

G/A, Transition substitution

Context Sequence [VIC/FAM]:

CAGCCAGTGGCCCCGGAAGGTGAAT[G/A]GCCTGCTCTCCCTGGCCCTATCAGC

Assay Details

Species:	Human
dbSNP Submissions:	NA
Phenotype:	MIM: 606908
Literature Links:	ARFGAP2 PubMed Links
Allele Nomenclature:
Minor Allele Frequency:

1000Genome	Applied Biosystems^®	HapMap
Global A (0.02) (0.98)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS A (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS A (0.02) (0.98)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR A (0.00) (1.00)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR A (0.04) (0.96)
AMR A (0.03) (0.97)

ARFGAP2 - ADP ribosylation factor GTPase activating protein 2
There are no transcripts associated with this gene.

C11orf49 - chromosome 11 open reading frame 49
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_001003676.2	1573	UTR 3			NP_001003676.1
NM_001003677.2	1573	UTR 3			NP_001003677.1
NM_001003678.2	1573	Intron			NP_001003678.1
NM_001278222.1	1573	UTR 3			NP_001265151.1
NM_024113.4	1573	UTR 3			NP_077018.1
XM_006718315.1	1573	Intron			XP_006718378.1
XM_011520364.2	1573	UTR 3			XP_011518666.1
XM_011520365.2	1573	UTR 3			XP_011518667.1
XM_017018276.1	1573	Intron			XP_016873765.1
XM_017018277.1	1573	UTR 3			XP_016873766.1
XM_017018278.1	1573	UTR 3			XP_016873767.1
XM_017018279.1	1573	UTR 3			XP_016873768.1
XM_017018280.1	1573	UTR 3			XP_016873769.1
XM_017018281.1	1573	UTR 3			XP_016873770.1
XM_017018282.1	1573	UTR 3			XP_016873771.1

More Information

Gene Ontology Categories:

Function(s)

protein binding