Product Details

SNP ID

rs75415902

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.20:2836176 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGAGGTGGCGAGGGCTGAGGAAGC[A/G]GGTAGGGAAAAGGCATGGGAGGAGG

Phenotype

MIM: 608550

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

PCED1A PubMed Links

Additional Information

For this assay, SNP(s) [rs2274669] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	1273	Missense Mutation			NP_001258097.1
NM_022760.4	1273	Missense Mutation			NP_073597.2
XM_005260804.2	1273	Missense Mutation			XP_005260861.1
XM_005260805.2	1273	Missense Mutation			XP_005260862.1
XM_005260806.3	1273	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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