Product Details

SNP ID
rs145755827
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:6477834 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTCAAGTCGACCACGTGTCCCTG[A/C]ATCCCGGGGGCCTAGACTCAGCTCC
Phenotype
MIM: 601638 MIM: 607388 MIM: 605493
Polymorphism
A/C, Transversion 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 1005 Missense Mutation GCA,TCA A285S NP_001229783.1
NM_001242855.1 1005 Missense Mutation GCA,TCA A214S NP_001229784.1
NM_001242856.1 1005 Missense Mutation GCA,TCA A167S NP_001229785.1
NM_012402.3 1005 Missense Mutation GCA,TCA A252S NP_036534.1
XM_005252840.4 1005 Missense Mutation GCA,TCA A252S 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.

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