Product Details

SNP ID

rs144402360

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:38485974 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGAGGAGGGGGAGGAGGAGGAGG[A/G]TATTGGTAGGCAGTCTGCCCCATGT

Phenotype

MIM: 608469

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DDX17 PubMed Links

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	2260	Silent Mutation	TAC,TAT	Y719Y	NP_001091974.1
NM_006386.4	2260	Silent Mutation	TAC,TAT	Y717Y	NP_006377.2

Gene

KDELR3

Gene Name

KDEL endoplasmic reticulum protein retention receptor 3

There are no transcripts associated with this gene.

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