Product Details

SNP ID

rs3894691

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:5188232 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACGGGGCATGTTCGTCTTTGGCTAC[G/T]ACAACTACATGGCTCACGCCTTCCC

Phenotype

MIM: 616596 MIM: 607673

Polymorphism

G/T, Transversion 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	489	Missense Mutation	GAC,TAC	D143Y	NP_055489.1
XM_011534271.2	489	Intron			XP_011532573.1
XM_011534272.2	489	UTR 5			XP_011532574.1

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