Product Details

SNP ID

rs200096396

Assay Type

Functionally tested

NCBI dbSNP Submissions

15

Location

Chr.1:93154797 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTGACTCTATCAAAGTTGCTTTCT[C/T]GTATGTTTCGATCACGAGCTTCAAA

Phenotype

MIM: 616876

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

TMED5 PubMed Links

Gene Details

Gene

TMED5

Gene Name

transmembrane p24 trafficking protein 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001167830.1	1059	UTR 3			NP_001161302.1
NM_016040.4	1059	Missense Mutation	CAA,CGA	Q188R	NP_057124.3

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