Product Details

SNP ID

rs149291954

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:46493676 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCCTGGCATGGGCCCCGGCGCCC[A/G]CGCTCCCCTTCTTCTTCCTGCTTCC

Phenotype

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

PNMAL2 PubMed Links

Additional Information

For this assay, SNP(s) [rs4803966] 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

PNMAL2

Gene Name

paraneoplastic Ma antigen family-like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020709.2	2237	Missense Mutation	GCG,GTG	A597V	NP_065760.1

Gene

PPP5D1

Gene Name

PPP5 tetratricopeptide repeat domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001205281.1	2237	Intron			NP_001192210.1
XM_005258397.3	2237	Intron			XP_005258454.1
XM_006722960.3	2237	Intron			XP_006723023.1
XM_017026125.1	2237	Intron			XP_016881614.1

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