Product Details

SNP ID

rs147882603

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:52420469 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCCGGGCACGTCCTTTAAGGACT[C/T]TACGGTGAGCAGTTATCTGCCAGAC

Phenotype

MIM: 608815

Polymorphism

C/T, 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	274	Intron			NP_001165891.1
NM_018100.3	274	Missense Mutation	TCT,TTT	S20F	NP_060570.2

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