Product Details

SNP ID

rs113758753

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:46411444 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTGTGGTCCCTTGGGCAGCTGAG[A/G]CTTCAGCTTCCTGGATACCTGGGGC

Phenotype

MIM: 614145

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CCDC8 PubMed Links

Gene Details

Gene

CCDC8

Gene Name

coiled-coil domain containing 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032040.4	2219	Missense Mutation	GCC,GTC	A456V	NP_114429.2

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