Product Details

SNP ID
rs80107514
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:123602206 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGCCTGTGCCGCTGCACCCGCAG[C/G]TGCTGGGCGCGCTGCGGGAGCTGGG
Phenotype
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
DDX55 PubMed Links

Gene Details

Gene
DDX55
Gene Name
DEAD-box helicase 55
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020936.2 71 Missense Mutation CTG,GTG L20V NP_065987.1
XM_011538608.2 71 Missense Mutation CTG,GTG L20V XP_011536910.1
XM_017019710.1 71 Missense Mutation CTG,GTG L20V XP_016875199.1
XM_017019711.1 71 UTR 5 XP_016875200.1
XM_017019712.1 71 Intron XP_016875201.1
XM_017019713.1 71 UTR 5 XP_016875202.1
XM_017019714.1 71 UTR 5 XP_016875203.1
XM_017019715.1 71 Missense Mutation CTG,GTG L20V XP_016875204.1
XM_017019716.1 71 Missense Mutation CTG,GTG L20V XP_016875205.1
XM_017019717.1 71 UTR 5 XP_016875206.1
XM_017019718.1 71 Intron XP_016875207.1
XM_017019719.1 71 UTR 5 XP_016875208.1
XM_017019720.1 71 UTR 5 XP_016875209.1
XM_017019721.1 71 Missense Mutation CTG,GTG L20V XP_016875210.1
Gene
TMED2
Gene Name
transmembrane p24 trafficking protein 2
There are no transcripts associated with this gene.

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