Product Details

SNP ID

rs143898038

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:50359773 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGATCTGCCAGTAGGCAGGGACC[A/G]TGACTGGCACGAAGGTGAGGGGTGG

Phenotype

MIM: 605631

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

NAPSA PubMed Links

Additional Information

For this assay, SNP(s) [rs638294] 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

NAPSA

Gene Name

napsin A aspartic peptidase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004851.2	1293	Missense Mutation	ACG,ATG	T253M	NP_004842.1
XM_011527540.1	1293	Missense Mutation	ACG,ATG	T253M	XP_011525842.1
XM_017027512.1	1293	Missense Mutation	ACG,ATG	T244M	XP_016883001.1

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