Product Details

SNP ID

rs139954410

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.16:56935235 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTTACTCTTTCTTTCCATGATCAG[C/T]GTCCAGAGGACCAGAGGTTAATTTA

Phenotype

MIM: 608070

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

HERPUD1 PubMed Links

Additional Information

For this assay, SNP(s) [rs2217332] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	303	Missense Mutation	CGT,TGT	R50C	NP_001010989.1
NM_001272103.1	303	Missense Mutation	CGT,TGT	R50C	NP_001259032.1
NM_014685.3	303	Missense Mutation	CGT,TGT	R50C	NP_055500.1

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