Product Details

SNP ID
rs139500120
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:83295473 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGGCAAGGTTTGATCATCCACCAT[C/T]TTTAGAGTTAGACCATTGAGTTGGA
Phenotype
MIM: 604724
Polymorphism
C/T, 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 1418 Silent Mutation AAA,AAG K501K NP_001092010.1
NM_001166498.2 1418 Silent Mutation AAA,AAG K427K NP_001159970.1
NM_001199830.1 1418 Silent Mutation AAA,AAG K443K NP_001186759.1
NM_006665.5 1418 Silent Mutation AAA,AAG K501K NP_006656.2

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