Product Details

SNP ID

rs150488038

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:55867123 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTGTCAATCTTAACACAGAGCTTG[G/T]GCGGAAGGTCCCTATACTGCTGACT

Phenotype

MIM: 601548

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

EFEMP1 PubMed Links

Additional Information

For this assay, SNP(s) [rs200536754] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	1892	Missense Mutation	ACA,CCA	T478P	NP_001034437.1
NM_001039349.2	1892	Missense Mutation	ACA,CCA	T478P	NP_001034438.1
XM_005264205.4	1892	Missense Mutation	ACA,CCA	T528P	XP_005264262.1
XM_017003586.1	1892	Missense Mutation	ACA,CCA	T398P	XP_016859075.1

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