Product Details

SNP ID

rs187608701

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:44568915 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCATCCACTCACCTTAAGCTTCTC[A/C]GAATGCAGAAGCTCTTCCTTGATCT

Phenotype

MIM: 608023 MIM: 612038

Polymorphism

A/C, 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	1894	Silent Mutation	TCG,TCT	S417S	NP_001244118.1
NM_019082.3	1894	Silent Mutation	TCG,TCT	S457S	NP_061955.1

Gene

TMED4

Gene Name

transmembrane p24 trafficking protein 4

There are no transcripts associated with this gene.

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