Product Details

SNP ID

rs200114953

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:2847892 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGAGTTTTATTCAGGCTCAGTACA[A/G]CTGTGCCTGGAACCAGATGCCCTGT

Phenotype

MIM: 608928

Polymorphism

A/G, 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	377	Missense Mutation	AAC,AGC	N73S	NP_114437.2
XM_017026038.1	377	Missense Mutation	AAC,AGC	N73S	XP_016881527.1

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