Product Details

SNP ID
rs200739809
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:2836056 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCACCTACCTAAGTGGGGTGGCATC[A/G]AGAAGTCCTCCACTGGATTATAGTT
Phenotype
MIM: 608550
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PCED1A PubMed Links

Gene Details

Gene
PCED1A
Gene Name
PC-esterase domain containing 1A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271168.1 1393 Missense Mutation TCG,TTG S316L NP_001258097.1
NM_022760.4 1393 Missense Mutation TCG,TTG S367L NP_073597.2
XM_005260804.2 1393 Missense Mutation TCG,TTG S367L XP_005260861.1
XM_005260805.2 1393 Missense Mutation TCG,TTG S316L XP_005260862.1
XM_005260806.3 1393 Intron XP_005260863.1
Gene
VPS16
Gene Name
VPS16, CORVET/HOPS core subunit
There are no transcripts associated with this gene.

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