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SNP ID

rs147976791

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27082163 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAGGAGCTGCAAGGCCTGCGGGGC[A/G]TCCTGCAAGGACTGAGCGGGCGCCT

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	1091	Missense Mutation	ATC,GTC	I198V	NP_008977.1

Gene

KHK

Gene Name

ketohexokinase

There are no transcripts associated with this gene.

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