Product Details

SNP ID

rs62000969

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:66590803 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAAGCTTGTCCCTCAAACCACTCT[A/C]GTCTCGCCAGCAATGCCTCCCGCAG

Phenotype

MIM: 603864

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CCDC87 PubMed Links

Gene Details

Gene

CCDC87

Gene Name

coiled-coil domain containing 87

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018219.2	2281	Missense Mutation	CGA,CTA	R738L	NP_060689.2

Gene

CCS

Gene Name

copper chaperone for superoxide dismutase

There are no transcripts associated with this gene.

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