Product Details

SNP ID
rs200201798
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:119071627 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATAGTTTCTGGAAAAGACTACCCTC[A/G]CGTGGAGTTGGACACCCATGGTTGT
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_001290185.1 698 Missense Mutation CAC,CGC H213R NP_001277114.1
NM_021729.5 698 Missense Mutation CAC,CGC H223R NP_068375.3
XM_011542898.1 698 Intron XP_011541200.1
XM_011542899.2 698 UTR 5 XP_011541201.1

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