Product Details

SNP ID

rs1050448

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:123621378 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGTTGGTCATTTGTGGCAGAGGGGT[G/A]TGGCTGCTTTTCGCCTGCATCTCGC

Phenotype

MIM: 606686

Polymorphism

G/A, Transition 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	1515	Intron			NP_065987.1
XM_011538608.2	1515	Intron			XP_011536910.1
XM_017019710.1	1515	Intron			XP_016875199.1
XM_017019711.1	1515	Intron			XP_016875200.1
XM_017019712.1	1515	Intron			XP_016875201.1
XM_017019713.1	1515	Intron			XP_016875202.1
XM_017019714.1	1515	Intron			XP_016875203.1
XM_017019715.1	1515	Intron			XP_016875204.1
XM_017019716.1	1515	Intron			XP_016875205.1
XM_017019717.1	1515	Intron			XP_016875206.1
XM_017019718.1	1515	Intron			XP_016875207.1
XM_017019719.1	1515	Intron			XP_016875208.1
XM_017019720.1	1515	Intron			XP_016875209.1
XM_017019721.1	1515	Intron			XP_016875210.1

Gene

EIF2B1

Gene Name

eukaryotic translation initiation factor 2B subunit alpha

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001414.3	1515	UTR 3			NP_001405.1

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