Product Details

SNP ID

rs143510643

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:44155428 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTGTGAGCTAATGGGCCCTAGATT[C/T]ATTTGCTTTGACATTTTTAAAAGGA

Phenotype

MIM: 300817

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EFHC2 PubMed Links

Gene Details

Gene

EFHC2

Gene Name

EF-hand domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_025184.3		Intron			NP_079460.2
XM_006724562.2		Intron			XP_006724625.1

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