C___3164771_10

• SNP ID: rs12153333
• Gene: RHOBTB3
• Gene Name: Rho related BTB domain containing 3
• Set Membership: -
• Chromosome Location: Chr.5: 95772218 - 95772218 on Build GRCh38
• Polymorphism: C/G, Transversion substitution
• Context Sequence [VIC/FAM]:

  CCAGAAAAAGAATTGGTAATCTGAA[C/G]GTTATATGGTGAACATATGAGAGTA

Assay Details

Species:	Human
dbSNP Submissions:	NA
Phenotype:	MIM: 607353
Literature Links:	RHOBTB3 PubMed Links
Allele Nomenclature:
Minor Allele Frequency:

1000Genome	Applied Biosystems^®	HapMap
Global C (0.40) (0.60)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS C (0.19) (0.81)	African American - Not Available	YRI (Yoruba) - Not Available
SAS C (0.28) (0.72)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR C (0.46) (0.54)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR G (0.48) (0.52)
AMR G (0.40) (0.60)

RHOBTB3 - Rho related BTB domain containing 3
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_014899.3		Intron			NP_055714.3
XM_011543279.2		Intron			XP_011541581.1
XM_017009236.1		Intron			XP_016864725.1
XM_017009237.1		Intron			XP_016864726.1

More Information

Panther Classification:

Molecular Function -

small GTPase

Gene Ontology Categories:

Process(es)

small GTPase mediated signal transduction
retrograde transport, endosome to Golgi

Function(s)

protein binding
ATP binding
ATPase activity
Rab GTPase binding