Product Details

SNP ID
rs141415553
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:2840792 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACCAGCCATGGACTGCTACACGGC[A/G]AACTGGAACCCACTCGGGGACTCTG
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 96 Intron NP_001258097.1
NM_022760.4 96 Intron NP_073597.2
XM_005260804.2 96 Intron XP_005260861.1
XM_005260805.2 96 Intron XP_005260862.1
XM_005260806.3 96 Intron XP_005260863.1
Gene
VPS16
Gene Name
VPS16, CORVET/HOPS core subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022575.3 96 Silent Mutation GCA,GCG A6A NP_072097.2
NM_080413.2 96 Silent Mutation GCA,GCG A6A NP_536338.1

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