Product Details

SNP ID

rs150477287

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:14914746 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTCCAAGGAGAAGTCAGAGTTCCA[A/C]CTTTGGAGTCTTTCCTTCTGATTCA

Phenotype

MIM: 610642

Polymorphism

A/C, Transversion 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	852	Missense Mutation	GTG,TTG	V170L	NP_001287713.1
NM_152321.3	852	Missense Mutation	GTG,TTG	V271L	NP_689534.1

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