Product Details

SNP ID

rs142885985

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27082159 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGACCAAGGAGCTGCAAGGCCTGCG[A/G]GGCGTCCTGCAAGGACTGAGCGGGC

Phenotype

MIM: 130660 MIM: 614058

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EMILIN1 PubMed Links

Gene Details

Gene

EMILIN1

Gene Name

elastin microfibril interfacer 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007046.3	1087	Silent Mutation	CGA,CGG	R196R	NP_008977.1

Gene

KHK

Gene Name

ketohexokinase

There are no transcripts associated with this gene.

View Full Product Details