Product Details

SNP ID

rs201139003

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:205713 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTCTTGCATCACCTGGGCCCGTT[A/C]CTGTTCCAGAAGCTTCTTTTCTTCT

Phenotype

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CCDC127 PubMed Links

Gene Details

Gene

CCDC127

Gene Name

coiled-coil domain containing 127

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_145265.2	467	Nonsense Mutation	GAA,TAA	E123*	NP_660308.1

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