Product Details

SNP ID

rs200725728

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:14915609 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGGTAAATTGCCAAAGCTGGCAG[C/T]TGAGACTCCTTTAGTTTGAAAAATG

Phenotype

MIM: 610642

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ERP27 PubMed Links

Gene Details

Gene

ERP27

Gene Name

endoplasmic reticulum protein 27

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300784.1	695	Silent Mutation	CAA,CAG	Q117Q	NP_001287713.1
NM_152321.3	695	Silent Mutation	CAA,CAG	Q218Q	NP_689534.1

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