Product Details

SNP ID

rs183437993

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:232612006 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAATGTGGAAACCTTAACAGCAGA[A/C]ATGGATTATGATGTCAGAGTTTGGG

Phenotype

MIM: 611617

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

EFHD1 PubMed Links

Additional Information

For this assay, SNP(s) [rs191232535] are located under a probe 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

EFHD1

Gene Name

EF-hand domain family member D1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001243252.1		Intron			NP_001230181.1
NM_001308395.1		Intron			NP_001295324.1
NM_025202.3		Intron			NP_079478.1
XM_011511924.2		Intron			XP_011510226.1

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