Product Details

SNP ID

rs144997996

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:46662398 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGATTCTCTTCACTGAAGCACTTCA[A/T]CCTTTCAAAAGTGCCAATGATCAAG

Phenotype

MIM: 601501

Polymorphism

A/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	2011	Missense Mutation	ATG,TTG	M638L	NP_060676.2
XM_005256045.3	2011	Missense Mutation	ATG,TTG	M571L	XP_005256102.1
XM_011523227.2	2011	Missense Mutation	ATG,TTG	M609L	XP_011521529.1

View Full Product Details