Product Details

SNP ID
rs192419029
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:46660543 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCCGCCGCAAGCGCAAATGCTCCA[G/T]TGTGTTATGAAAATGTTTGTTAATC
Phenotype
MIM: 601501
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
VPS35 PubMed Links

Gene Details

Gene
VPS35
Gene Name
VPS35 retromer complex component
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018206.5 2419 Missense Mutation ATG,CTG M774L NP_060676.2
XM_005256045.3 2419 Missense Mutation ATG,CTG M707L XP_005256102.1
XM_011523227.2 2419 Missense Mutation ATG,CTG M745L XP_011521529.1

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