Product Details

SNP ID

rs199997937

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.4:83301038 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGTTAGAAAAAGGATAGGGTAAC[C/T]GCAAGTACTTGGTGACATTATGGAG

Phenotype

MIM: 604724

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

HPSE PubMed Links

Additional Information

For this assay, SNP(s) [rs11031] are located under a primer 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

HPSE

Gene Name

heparanase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001098540.2	1309	Missense Mutation	CAG,CGG	Q465R	NP_001092010.1
NM_001166498.2	1309	Missense Mutation	CAG,CGG	Q391R	NP_001159970.1
NM_001199830.1	1309	Missense Mutation	CAG,CGG	Q407R	NP_001186759.1
NM_006665.5	1309	Missense Mutation	CAG,CGG	Q465R	NP_006656.2

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