Product Details

SNP ID
rs146337766
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:513600 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGTCACCCTCAAGCAGGCAGGTT[A/G]TTCTGAGTGCTCTTCCTAGCGAAGG
Phenotype
MIM: 615850
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
VPS53 PubMed Links

Gene Details

Gene
VPS53
Gene Name
VPS53, GARP complex subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001128159.2 8415 UTR 3 NP_001121631.1
NM_018289.3 8415 Intron NP_060759.2
XM_011523953.2 8415 Intron XP_011522255.1
XM_017024817.1 8415 UTR 3 XP_016880306.1
XM_017024818.1 8415 UTR 3 XP_016880307.1

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