Product Details

SNP ID

rs201230520

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:4249291 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAACTCAAGCTCCCCAAAGACCGG[C/T]AGTACGTGGTGCGGCTGATGGCCCC

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CCDC94 PubMed Links

Gene Details

Gene

CCDC94

Gene Name

coiled-coil domain containing 94

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018074.4	121	Nonsense Mutation	CAG,TAG	Q30*	NP_060544.2

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