Product Details

SNP ID

rs200895004

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:56935250 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATGATCAGCGTCCAGAGGACCAG[A/C]GGTTAATTTATTCTGGGAAGCTGTT

Phenotype

MIM: 608070

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

HERPUD1 PubMed Links

Gene Details

Gene

HERPUD1

Gene Name

homocysteine inducible ER protein with ubiquitin like domain 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001010989.2	318	Silent Mutation	AGG,CGG	R55R	NP_001010989.1
NM_001272103.1	318	Silent Mutation	AGG,CGG	R55R	NP_001259032.1
NM_014685.3	318	Silent Mutation	AGG,CGG	R55R	NP_055500.1

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