Product Details

SNP ID

rs4074069

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:82419530 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GATCATAACCATCTTATAAACAAAC[C/T]AGTGCTGTTTTGTTTTAGCAACAAA

Phenotype

MIM: 616864

Polymorphism

C/T, 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		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

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		Intron			NP_078924.1
NM_175902.4		Intron			NP_787098.3

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