Product Details

SNP ID

rs148549870

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:8730174 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTTCCTTCTTTTTCACCTCTGCCC[A/G]GATGTCCGACCGGTCTTGGATAAAT

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CCDC42 PubMed Links

Gene Details

Gene

CCDC42

Gene Name

coiled-coil domain containing 42

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001158261.1	912	Missense Mutation	CGG,TGG	R229W	NP_001151733.1
NM_144681.2	912	Missense Mutation	CGG,TGG	R303W	NP_653282.2

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