Product Details

SNP ID

rs144330000

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:44566064 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGTGCTTGAAGCTGCGCAGTGGGT[G/T]CTGGGACTTTGCTCTCTAAGGAGGC

Phenotype

MIM: 608023

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

DDX56 PubMed Links

Gene Details

Gene

DDX56

Gene Name

DEAD-box helicase 56

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001257189.1	2105	Missense Mutation	AAC,CAC	N488H	NP_001244118.1
NM_019082.3	2105	Missense Mutation	AAC,CAC	N528H	NP_061955.1

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