Product Details

SNP ID

rs1819191

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.13:49699834 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGTTTGTGACCTTAATTAGCTTTTA[C/T]GTTGTTATTCCTACTTTTAGCGAAC

Phenotype

MIM: 601892

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

EBPL PubMed Links

Additional Information

For this assay, SNP(s) [rs141523087] 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

EBPL

Gene Name

emopamil binding protein like

There are no transcripts associated with this gene.

Gene

KPNA3

Gene Name

karyopherin subunit alpha 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002267.3	3630	UTR 3			NP_002258.2
XM_017020561.1	3630	UTR 3			XP_016876050.1

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