Product Details

SNP ID

rs1127809

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.7:44566500 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCTTCCGCTTCTTGTGAGGGCGC[T/A]CCAGGCCACGGAGAGCAGGAGGAAC

Phenotype

MIM: 608023

Polymorphism

T/A, Transversion Substitution

Allele Nomenclature

Literature Links

DDX56 PubMed Links

Additional Information

For this assay, SNP(s) [rs6656] 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

DDX56

Gene Name

DEAD-box helicase 56

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001257189.1	2037	Missense Mutation	GAG,GTG	E465V	NP_001244118.1
NM_019082.3	2037	Missense Mutation	GAG,GTG	E505V	NP_061955.1

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