Product Details

SNP ID

rs146941567

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:38484017 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGACCTTTCCCTCAAACAGATGC[C/T]TTCAAGAGCTGCGAGAGAGTAGGGC

Phenotype

MIM: 608469

Polymorphism

C/T, 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	4217	UTR 3			NP_001091974.1
NM_006386.4	4217	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	4217	Intron			NP_006846.1
NM_016657.2	4217	Intron			NP_057839.1

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