Product Details

SNP ID: rs181724794
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.11:6477791 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTTCTCATACTTGTCCCGATGGGCC[C/T]GGAAAGTGGCCTGGGCACTCTCAAG
Phenotype: MIM: 601638 MIM: 607388 MIM: 605493
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: ARFIP2 PubMed Links

Gene Details

Gene: ARFIP2
Gene Name: ADP ribosylation factor interacting protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001242854.1	1048	Missense Mutation	CAG,CGG	Q299R	NP_001229783.1
NM_001242855.1	1048	Missense Mutation	CAG,CGG	Q228R	NP_001229784.1
NM_001242856.1	1048	Missense Mutation	CAG,CGG	Q181R	NP_001229785.1
NM_012402.3	1048	Missense Mutation	CAG,CGG	Q266R	NP_036534.1
XM_005252840.4	1048	Missense Mutation	CAG,CGG	Q266R	XP_005252897.1

Gene: TIMM10B
Gene Name: translocase of inner mitochondrial membrane 10 homolog B (yeast)

There are no transcripts associated with this gene.

Gene: TRIM3
Gene Name: tripartite motif containing 3

There are no transcripts associated with this gene.

View Full Product Details