Product Details

SNP ID
rs11549014
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:82418474 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGGCGCCTTGGTTGCGGCCCTCCG[T/C]TGAGGAGCCATCGGACCAGGCCGCC
Phenotype
MIM: 616864
Polymorphism
T/C, Transition 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 99 UTR 5 NP_775891.2
XM_005256346.3 99 Intron XP_005256403.1
XM_005256347.4 99 Intron XP_005256404.1
XM_006722280.3 99 Intron XP_006722343.1
XM_011523560.2 99 Intron XP_011521862.1
XM_011523561.2 99 Intron XP_011521863.1
XM_017024484.1 99 Intron XP_016879973.1
XM_017024485.1 99 Intron XP_016879974.1
Gene
OGFOD3
Gene Name
2-oxoglutarate and iron dependent oxygenase domain containing 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024648.2 99 Silent Mutation CAA,CAG Q4Q NP_078924.1
NM_175902.4 99 Silent Mutation CAA,CAG Q4Q NP_787098.3

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