Product Details

SNP ID

rs181678288

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:119069263 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTACAGGCTTCCAAGCCTACAAACT[A/G]CGGGTGACACACCTGTACCAACTGA

Phenotype

MIM: 608549

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

VPS11 PubMed Links

Gene Details

Gene

VPS11

Gene Name

VPS11, CORVET/HOPS core subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001290185.1	285	Silent Mutation	CTA,CTG	L75L	NP_001277114.1
NM_021729.5	285	Silent Mutation	CTA,CTG	L85L	NP_068375.3
XM_011542898.1	285	Intron			XP_011541200.1
XM_011542899.2	285	UTR 5			XP_011541201.1

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