Product Details

SNP ID
rs147979522
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:44581133 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCTTCTGAATCTGTTCCACCTGA[C/T]CAAGCAACTGGCGGGCGCGGAGCTG
Phenotype
MIM: 608023 MIM: 612038
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DDX56 PubMed Links

Gene Details

Gene
DDX56
Gene Name
DEAD-box helicase 56
There are no transcripts associated with this gene.

Gene
TMED4
Gene Name
transmembrane p24 trafficking protein 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001303058.1 583 Missense Mutation GAT,GGT D165G NP_001289987.1
NM_001303059.1 583 Intron NP_001289988.1
NM_001303060.1 583 Missense Mutation GAT,GGT D106G NP_001289989.1
NM_001303061.1 583 Missense Mutation GAT,GGT D106G NP_001289990.1
NM_001303062.1 583 Missense Mutation GAT,GGT D106G NP_001289991.1
NM_182547.3 583 Missense Mutation GAT,GGT D165G NP_872353.2

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