Product Details

SNP ID

rs138450211

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:12813380 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACCTCACACAAGATGGCGGCACCC[A/G]AGGAACACGATTCTCCGACCGAAGC

Phenotype

MIM: 615428

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DDX47 PubMed Links

Gene Details

Gene

DDX47

Gene Name

DEAD-box helicase 47

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016355.3	35	Missense Mutation	AAG,GAG	K5E	NP_057439.2
NM_201224.1	35	Missense Mutation	AAG,GAG	K5E	NP_957518.1

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