Product Details

SNP ID
rs200895892
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:37863047 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTATCGTTTCCTTCTGTTTGAGGA[A/C]CAGCTGAATCAGCTCATCGTGGGTC
Phenotype
MIM: 608737
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
RAB11FIP1 PubMed Links

Gene Details

Gene
RAB11FIP1
Gene Name
RAB11 family interacting protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001002814.2 3756 Missense Mutation GTC,TTC V1234F NP_001002814.2
NM_025151.4 3756 Missense Mutation GTC,TTC V600F NP_079427.4
XM_017013869.1 3756 Intron XP_016869358.1

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