Product Details

SNP ID
rs2217332
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:56935236 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GTTACTCTTTCTTTCCATGATCAGC[A/G]TCCAGAGGACCAGAGGTTAATTTAT
Phenotype
MIM: 608070
Polymorphism
A/G, Transition 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_001010989.2 304 Missense Mutation CAT,CGT H50R NP_001010989.1
NM_001272103.1 304 Missense Mutation CAT,CGT H50R NP_001259032.1
NM_014685.3 304 Missense Mutation CAT,CGT H50R NP_055500.1

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