Product Details

SNP ID
rs11557556
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:5187843 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGCTCGTCCTGGGGCTGGTGCTCC[C/T]CCGGCTTGGCCTCCATGGAGTATTG
Phenotype
MIM: 616596 MIM: 607673
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
ARL8B PubMed Links

Gene Details

Gene
ARL8B
Gene Name
ADP ribosylation factor like GTPase 8B
There are no transcripts associated with this gene.

Gene
EDEM1
Gene Name
ER degradation enhancing alpha-mannosidase like protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014674.2 100 Missense Mutation CCC,CTC P13L NP_055489.1
XM_011534271.2 100 Intron XP_011532573.1
XM_011534272.2 100 UTR 5 XP_011532574.1

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