Product Details

SNP ID

rs11544

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.22:38483573 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGAACATCACACATCTACAAGTCT[C/T]TCAAGTCTTAATGCAACAGGAATGT

Phenotype

MIM: 608469

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

DDX17 PubMed Links

Additional Information

For this assay, SNP(s) [rs148319213] 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

DDX17

Gene Name

DEAD-box helicase 17

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001098504.1	4660	UTR 3			NP_001091974.1
NM_006386.4	4660	UTR 3			NP_006377.2

Gene

KDELR3

Gene Name

KDEL endoplasmic reticulum protein retention receptor 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006855.3	4660	Intron			NP_006846.1
NM_016657.2	4660	Intron			NP_057839.1

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