C__27848615_10

SNP ID:

rs4785706

Gene

VPS9D1 VPS9D1-AS1 ZNF276

Gene Name

VPS9 domain containing 1

VPS9D1 antisense RNA 1

zinc finger protein 276

Set Membership:

-

Chromosome Location:

Chr.16: 89716779 - 89716779 on Build GRCh38

Polymorphism:

C/T, Transition substitution

Context Sequence [VIC/FAM]:

CCCTCTCCAGACACTGCTGTGCTAG[C/T]TTCAGCATCTTGGAGGTGTCGGGGG

Assay Details

Species:	Human
dbSNP Submissions:	NA
Phenotype:	MIM: 608460
Literature Links:	VPS9D1 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 (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS C (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR C (0.08) (0.92)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR C (0.00) (1.00)
AMR C (0.01) (0.99)

VPS9D1 - VPS9 domain containing 1
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_004913.2	2214	Silent Mutation			NP_004904.2
XM_005256329.4	2214	Missense Mutation			XP_005256386.1
XM_005256330.4	2214	Missense Mutation			XP_005256387.1
XM_005256331.2	2214	Intron			XP_005256388.1
XM_006721350.2	2214	Missense Mutation			XP_006721413.1
XM_011523476.2	2214	Missense Mutation			XP_011521778.1
XM_011523477.2	2214	Missense Mutation			XP_011521779.1
XM_011523478.2	2214	Missense Mutation			XP_011521780.1
XM_011523479.2	2214	Missense Mutation			XP_011521781.1
XM_011523480.2	2214	Missense Mutation			XP_011521782.1

VPS9D1-AS1 - VPS9D1 antisense RNA 1
There are no transcripts associated with this gene.

ZNF276 - zinc finger protein 276
There are no transcripts associated with this gene.

More Information

Panther Classification:

Molecular Function -

guanyl-nucleotide exchange factor

Gene Ontology Categories:

Process(es)

ATP synthesis coupled proton transport
positive regulation of GTPase activity

Function(s)

GTPase activator activity
transporter activity