Product Details

SNP ID

rs2289686

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:2847746 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGTCTGGTGCCGCAGTCCCCTCTC[C/T]CCTGGCCTCATTGTTCTCCGGGTTT

Phenotype

MIM: 608928

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EMILIN2 PubMed Links

Gene Details

Gene

EMILIN2

Gene Name

elastin microfibril interfacer 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032048.2		Intron			NP_114437.2
XM_017026038.1		Intron			XP_016881527.1

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