Product Details

SNP ID

rs148005639

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:2835496 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATGTCCCCGAATGGGCAGGAGGC[C/T]GTCTGTCCAGTTTGTATGTGTGGAT

Phenotype

MIM: 608550

Polymorphism

C/T, 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	1624	Missense Mutation	CAG,CGG	Q393R	NP_001258097.1
NM_022760.4	1624	Missense Mutation	CAG,CGG	Q444R	NP_073597.2
XM_005260804.2	1624	Missense Mutation	CAG,CGG	Q444R	XP_005260861.1
XM_005260805.2	1624	Missense Mutation	CAG,CGG	Q393R	XP_005260862.1
XM_005260806.3	1624	Missense Mutation	CAG,CGG	Q352R	XP_005260863.1

Gene

VPS16

Gene Name

VPS16, CORVET/HOPS core subunit

There are no transcripts associated with this gene.

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