Product Details

SNP ID
rs113431663
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:82429397 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGATACACCATTCTGGCTTCTATT[G/T]CCACACACCGCGGGTAAGAAGGTTG
Phenotype
MIM: 616864
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
HEXDC PubMed Links

Gene Details

Gene
HEXDC
Gene Name
hexosaminidase D
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_173620.2 Intron NP_775891.2
XM_005256346.3 Intron XP_005256403.1
XM_005256347.4 Intron XP_005256404.1
XM_006722280.3 Intron XP_006722343.1
XM_011523560.2 Intron XP_011521862.1
XM_011523561.2 Intron XP_011521863.1
XM_017024484.1 Intron XP_016879973.1
XM_017024485.1 Intron XP_016879974.1

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