Product Details

SNP ID

rs2297047

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.20:2840955 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

CCGCCCCGCGCCGGCTCTCCCCGAG[C/T]GTCTGCCACTTAGCGCACAGCCGCC

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	289	UTR 5			NP_001258097.1
NM_022760.4	289	Intron			NP_073597.2
XM_005260804.2	289	UTR 5			XP_005260861.1
XM_005260805.2	289	Intron			XP_005260862.1
XM_005260806.3	289	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	289	Intron			NP_072097.2
NM_080413.2	289	Intron			NP_536338.1

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