Product Details

SNP ID

rs148337668

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:38485969 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAAGGAGGAGGAGGGGGAGGAGGA[A/G]GAGGGTATTGGTAGGCAGTCTGCCC

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	2265	Missense Mutation	CCT,CTT	P721L	NP_001091974.1
NM_006386.4	2265	Missense Mutation	CCT,CTT	P719L	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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