Product Details

SNP ID
rs200637690
Assay Type
Functionally tested
NCBI dbSNP Submissions
7
Location
Chr.1:222621201 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGCTCTTGAAGATTTCACAGGCC[C/T]GGATTGTCGTTTTGTGAATTTTAAA
Phenotype
MIM: 613455
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MIA3 PubMed Links

Gene Details

Gene
MIA3
Gene Name
MIA family member 3, ER export factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001300867.1 185 Intron NP_001287796.1
NM_001324062.1 185 Missense Mutation CCG,CTG P59L NP_001310991.1
NM_001324063.1 185 Missense Mutation CCG,CTG P59L NP_001310992.1
NM_001324064.1 185 UTR 5 NP_001310993.1
NM_001324065.1 185 Intron NP_001310994.1
NM_198551.3 185 Missense Mutation CCG,CTG P59L NP_940953.2
XM_006711304.3 185 Missense Mutation CCG,CTG P142L XP_006711367.2
XM_011509513.2 185 Missense Mutation CCG,CTG P142L XP_011507815.2
XM_017001243.1 185 Intron XP_016856732.1

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