Product Details

SNP ID

rs115006100

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:52420577 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTCCCCTCCACTCAAGTCTGTCTT[C/T]TCTCCAAACACGTCTTCTGTCCTGA

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		Intron			NP_001165891.1
NM_018100.3		Intron			NP_060570.2

View Full Product Details