Product Details

SNP ID
rs199940967
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:46661807 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTAGAGAGGGGTCCATGCACTGAT[G/T]TGCTATTTTTAGAGCTTTTTTTAGG
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 2221 Missense Mutation AAT,CAT N708H NP_060676.2
XM_005256045.3 2221 Missense Mutation AAT,CAT N641H XP_005256102.1
XM_011523227.2 2221 Missense Mutation AAT,CAT N679H XP_011521529.1

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