Product Details

SNP ID

rs138654516

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:26023060 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCCTGCCTCCTCCTCCTCCTCAG[A/C]CTGGACGCCCAGACTGGAGAGTGCA

Phenotype

MIM: 601738

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

EXTL1 PubMed Links

Gene Details

Gene

EXTL1

Gene Name

exostosin like glycosyltransferase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004455.2	1312	Missense Mutation	AGA,AGC	R138S	NP_004446.2
XM_005245779.3	1312	Missense Mutation	AGA,AGC	R138S	XP_005245836.1
XM_017000650.1	1312	Missense Mutation	AGA,AGC	R138S	XP_016856139.1

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