Product Details

SNP ID

rs149627167

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:52424131 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCAACCTAAACAAGCCCCACCTGC[A/G]GATTTTATTCCTGCGCATGTGGCCT

Phenotype

MIM: 608815

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EFHC1 PubMed Links

Gene Details

Gene

EFHC1

Gene Name

EF-hand domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001172420.1	376	Silent Mutation	GCA,GCG	A64A	NP_001165891.1
NM_018100.3	376	Silent Mutation	GCA,GCG	A83A	NP_060570.2

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