Product Details

SNP ID
rs6996514
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:43163449 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAGAGCCCCTCTCTTTTTCACTTA[G/T]GCAACAAGCATGAACAAGAAAATTA
Phenotype
MIM: 610453
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
HGSNAT PubMed Links

Gene Details

Gene
HGSNAT
Gene Name
heparan-alpha-glucosaminide N-acetyltransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152419.2 Intron NP_689632.2
XM_005273409.1 Intron XP_005273466.1
XM_005273410.1 Intron XP_005273467.1
XM_005273411.1 Intron XP_005273468.1
XM_005273412.3 Intron XP_005273469.1
XM_017013088.1 Intron XP_016868577.1
XM_017013089.1 Intron XP_016868578.1

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