Product Details

SNP ID

rs2230292

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:64716750 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGGCTGTGTGAGGTCGCTACAGAAG[A/G]TGTTTGGAAAATCTTCGAGTCCTGA

Phenotype

MIM: 607664

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GNS PubMed Links

Gene Details

Gene

GNS

Gene Name

glucosamine (N-acetyl)-6-sulfatase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002076.3	1820	Silent Mutation	CAC,CAT	H550H	NP_002067.1

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