Product Details

SNP ID

rs145266047

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:46411535 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCGGGCCTGTGCCCTCTGATTAT[C/T]TGCACCCTGGACAGCTGGGGCCCTT

Phenotype

MIM: 614145

Polymorphism

C/T, 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	2128	Missense Mutation			NP_114429.2

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