Product Details

SNP ID

rs17620012

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.2:63897759 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

TCTATTGCTATTTCACTACATTTTT[C/T]CTCCTTAGTTGGAAAAACCTTTTTA

Phenotype

MIM: 191760 MIM: 614633

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

UGP2 PubMed Links

Additional Information

For this assay, SNP(s) [rs79983499] are located under a primer 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

UGP2

Gene Name

UDP-glucose pyrophosphorylase 2

There are no transcripts associated with this gene.

Gene

VPS54

Gene Name

VPS54, GARP complex subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001005739.1		Intron			NP_001005739.1
NM_016516.2		Intron			NP_057600.2
XM_006712029.3		Intron			XP_006712092.1
XM_017004316.1		Intron			XP_016859805.1

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