Product Details

SNP ID
rs142408621
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.20:2836245 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGAGCAAGGCCAGGTGCTCCCCG[A/C]AGTCTGGGGTCTGCCTATGGCTTCC
Phenotype
MIM: 608550
Polymorphism
A/C, Transversion 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 1204 Missense Mutation TGC,TTC C253F NP_001258097.1
NM_022760.4 1204 Missense Mutation TGC,TTC C304F NP_073597.2
XM_005260804.2 1204 Missense Mutation TGC,TTC C304F XP_005260861.1
XM_005260805.2 1204 Missense Mutation TGC,TTC C253F XP_005260862.1
XM_005260806.3 1204 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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