Product Details

SNP ID

rs141402057

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:59794550 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAATAAGACATTCCAGCTCTAGTCA[C/G]TGAAGTTGGTGGCGTGAAACCAACC

Phenotype

MIM: 601985

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CCDC6 PubMed Links

Gene Details

Gene

CCDC6

Gene Name

coiled-coil domain containing 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005436.4	1385	Missense Mutation	CTG,GTG	L385V	NP_005427.2

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