Product Details

SNP ID

rs145033509

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:46661784 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAATTTCTATAAAAAGCTGCACTTG[C/T]AGAGAGGGGTCCATGCACTGATTTG

Phenotype

MIM: 601501

Polymorphism

C/T, Transition 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	2244	Silent Mutation	CTA,CTG	L715L	NP_060676.2
XM_005256045.3	2244	Silent Mutation	CTA,CTG	L648L	XP_005256102.1
XM_011523227.2	2244	Silent Mutation	CTA,CTG	L686L	XP_011521529.1

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