Product Details

SNP ID

rs139636426

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:51865427 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATAAGGAAGATGTTTTCCTTCAAG[C/G]TGAGCAGATGGATGGGGCTTGCCTG

Phenotype

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CCDC70 PubMed Links

Gene Details

Gene

CCDC70

Gene Name

coiled-coil domain containing 70

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_031290.2	345	Missense Mutation	CTG,GTG	L17V	NP_112580.2

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