Product Details

SNP ID

rs12039319

Assay Type

Functionally tested

NCBI dbSNP Submissions

49

Location

Chr.1:100874578 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCTACATTTCAGTTTTATCTAGCTC[C/T]AGGTAACTTCATAAATCTGTGTTCT

Phenotype

MIM: 602411

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EXTL2 PubMed Links

Gene Details

Gene

EXTL2

Gene Name

exostosin like glycosyltransferase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001033025.2		Intron			NP_001028197.1
NM_001261440.1		Intron			NP_001248369.1
NM_001261441.1		Intron			NP_001248370.1
NM_001261442.1		Intron			NP_001248371.1
NM_001439.3		Intron			NP_001430.1
XM_005270621.1		Intron			XP_005270678.1
XM_011540994.2		Intron			XP_011539296.1
XM_011540995.2		Intron			XP_011539297.1
XM_011540996.2		Intron			XP_011539298.1
XM_017000651.1		Intron			XP_016856140.1

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