Product Details

SNP ID

rs188731444

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.3:73062512 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTACACCAGGCATTACTGAGTGTTG[G/T]TGTGAGCAAGAGGTCTAATACTGTG

Phenotype

MIM: 613250 MIM: 613822

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

EBLN2 PubMed Links

Additional Information

For this assay, SNP(s) [rs200718150] 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

EBLN2

Gene Name

endogenous Bornavirus-like nucleoprotein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018029.4	854	Missense Mutation	GGT,GTT	G144V	NP_060499.3

Gene

PPP4R2

Gene Name

protein phosphatase 4 regulatory subunit 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318025.1	854	Intron			NP_001304954.1
NM_001318026.1	854	Intron			NP_001304955.1
NM_001318027.1	854	Intron			NP_001304956.1
NM_001318028.1	854	Intron			NP_001304957.1
NM_174907.3	854	Intron			NP_777567.1

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