Product Details

SNP ID

rs200846211

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:26039910 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGTGAAGTCAACGCCCTTGGGGGT[C/T]CCTGAGGACGGCAAGGACAGGGGAA

Phenotype

MIM: 601738 MIM: 609617

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EXTL1 PubMed Links

Gene Details

Gene

EXTL1

Gene Name

exostosin like glycosyltransferase 1

There are no transcripts associated with this gene.

Gene

SLC30A2

Gene Name

solute carrier family 30 member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001004434.2	1082	Silent Mutation	GGA,GGG	G280G	NP_001004434.1
NM_032513.4	1082	Silent Mutation	GGA,GGG	G231G	NP_115902.1

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