Product Details

SNP ID

rs142122809

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:131637410 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGGAATCTACGTTGACTTTAGCAA[C/T]GGAACAACCTGTTAAGAAGAACACT

Phenotype

MIM: 602182 MIM: 605042

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ENPP3 PubMed Links

Gene Details

Gene

ENPP3

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005021.4	176	Missense Mutation	ACG,ATG	T9M	NP_005012.2
XM_011535897.1	176	Intron			XP_011534199.1
XM_017010932.1	176	Intron			XP_016866421.1

Gene

MED23

Gene Name

mediator complex subunit 23

There are no transcripts associated with this gene.

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