Product Details

SNP ID

rs143135257

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:100902907 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATATGAATTTGGGCGCAGGAACACA[A/G]TTCAACCCATGACAGTGTTTTACTA

Phenotype

MIM: 602411 MIM: 611149

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EXTL2 PubMed Links

Gene Details

Gene

EXTL2

Gene Name

exostosin like glycosyltransferase 2

There are no transcripts associated with this gene.

Gene

SLC30A7

Gene Name

solute carrier family 30 member 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001144884.1		Intron			NP_001138356.1
NM_133496.4		Intron			NP_598003.2
XM_011540779.2		Intron			XP_011539081.1
XM_017000400.1		Intron			XP_016855889.1
XM_017000401.1		Intron			XP_016855890.1

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