Product Details

SNP ID

rs116813707

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:232613100 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATCCCATTCCTAGGTAATTAACCA[A/C]CCCCTGCCCCCCACCAAAAAATATA

Phenotype

MIM: 611617

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

EFHD1 PubMed Links

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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