Product Details

SNP ID

rs144181069

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:46411202 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTCTCTAGCCCTCACCTCACAGCT[A/G]GTCTTCTTGCTCTCCCTGCTCAGCT

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	2461	Nonsense Mutation	CAG,TAG	Q537*	NP_114429.2

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