Product Details

SNP ID

rs121434491

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:55871091 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAATTCCAACACATTTCATCCTCCC[A/G]GCATTCATTTGTGGTCTCACACTCA

Phenotype

MIM: 601548

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EFEMP1 PubMed Links

Gene Details

Gene

EFEMP1

Gene Name

EGF containing fibulin like extracellular matrix protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039348.2	1493	Missense Mutation	CGG,TGG	R345W	NP_001034437.1
NM_001039349.2	1493	Missense Mutation	CGG,TGG	R345W	NP_001034438.1
XM_005264205.4	1493	Missense Mutation	CGG,TGG	R395W	XP_005264262.1
XM_017003586.1	1493	Missense Mutation	CGG,TGG	R265W	XP_016859075.1

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