Product Details

SNP ID

rs201320719

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27082185 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCGTCCTGCAAGGACTGAGCGGGC[A/G]CCTGGCAGAGGATGTGCAGAGGGCT

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	1113	Missense Mutation	CAC,CGC	H205R	NP_008977.1

Gene

KHK

Gene Name

ketohexokinase

There are no transcripts associated with this gene.

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