Product Details

SNP ID
rs200924614
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:83295427 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCAAGCCCAGTGAACTTCCTGGCC[A/G]GAGAGGTTTTTCCATTAAAGGTGGC
Phenotype
MIM: 604724
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
HPSE PubMed Links

Gene Details

Gene
HPSE
Gene Name
heparanase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001098540.2 1464 Missense Mutation CGG,TGG R517W NP_001092010.1
NM_001166498.2 1464 Missense Mutation CGG,TGG R443W NP_001159970.1
NM_001199830.1 1464 Missense Mutation CGG,TGG R459W NP_001186759.1
NM_006665.5 1464 Missense Mutation CGG,TGG R517W NP_006656.2

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