Product Details

SNP ID

rs200312696

Assay Type

Functionally tested

NCBI dbSNP Submissions

16

Location

Chr.1:26022863 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCAGAAGATGCCGTTTCACCTCCT[C/G]AAGCCCCTCATGGTGGCAGCTGCAA

Phenotype

MIM: 601738

Polymorphism

C/G, 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	1115	Missense Mutation	CAA,GAA	Q73E	NP_004446.2
XM_005245779.3	1115	Missense Mutation	CAA,GAA	Q73E	XP_005245836.1
XM_017000650.1	1115	Missense Mutation	CAA,GAA	Q73E	XP_016856139.1

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