Product Details

SNP ID
rs11540418
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:85780387 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCATGGGGCGCACTCACTGGTGTGG[G/T]TCTCTGCACCGCCATCTGTTCTCAT
Phenotype
MIM: 604886
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
EMC8 PubMed Links

Gene Details

Gene
EMC8
Gene Name
ER membrane protein complex subunit 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142288.1 403 Intron NP_001135760.1
NM_006067.4 403 Missense Mutation GAA,GAC E155D NP_006058.1
XM_011522813.2 403 Intron XP_011521115.1
XM_017022867.1 403 Missense Mutation GAA,GAC E103D XP_016878356.1

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