Product Details

SNP ID

rs35464488

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27082373 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCACCTCAACAACCATCATGGCGGC[A/G]GCAGCAGCAGTGGGGGCAGCAGGGC

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	1301	Missense Mutation	AGC,GGC	S268G	NP_008977.1

Gene

KHK

Gene Name

ketohexokinase

There are no transcripts associated with this gene.

View Full Product Details