Product Details

SNP ID

rs201333059

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.4:151279859 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCAGGATGCTGCTGCAGGGCGCT[A/G]GCCTTGGCAGGTCAGCCTACACTTT

Phenotype

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

PRSS48 PubMed Links

Additional Information

For this assay, SNP(s) [rs148861921] 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

PRSS48

Gene Name

protease, serine 48

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_183375.2	562	Nonsense Mutation	TAG,TGG	*39W	NP_899231.2
XM_011531921.2	562	Nonsense Mutation	TAG,TGG	*62W	XP_011530223.1
XM_011531922.2	562	Intron			XP_011530224.1

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