Product Details

SNP ID

rs200510672

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:52420432 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCAATGGTGTCCAATCCCGTGCAT[C/G]GCTTGCCCTTTCTTCCGGGCACGTC

Phenotype

MIM: 608815

Polymorphism

C/G, Transversion 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	237	Intron			NP_001165891.1
NM_018100.3	237	Missense Mutation	CGC,GGC	R8G	NP_060570.2

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