Product Details

SNP ID

rs4242575

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:117801845 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GATTGGCCCACTCATTCCCAAAGGG[C/T]GCTGTACCCAGGCAAAATACTCATA

Phenotype

MIM: 608177

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EXT1 PubMed Links

Gene Details

Gene

EXT1

Gene Name

exostosin glycosyltransferase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000127.2		Intron			NP_000118.2

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