Product Details

SNP ID
rs144185023
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:83295496 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCTTTAGAGTTAGACCATTGAGTT[A/G]GACAGATCTGCAAAGGAGAAAGATA
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 1395 Nonsense Mutation CAA,TAA Q494* NP_001092010.1
NM_001166498.2 1395 Nonsense Mutation CAA,TAA Q420* NP_001159970.1
NM_001199830.1 1395 Nonsense Mutation CAA,TAA Q436* NP_001186759.1
NM_006665.5 1395 Nonsense Mutation CAA,TAA Q494* NP_006656.2

View Full Product Details