Product Details

SNP ID

rs200914420

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:63751976 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGTTTCTCAGGATCTTCCTCATT[C/T]ATGATTCGCTCCTTCTCTGCTCTTT

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CCDC47 PubMed Links

Gene Details

Gene

CCDC47

Gene Name

coiled-coil domain containing 47

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020198.2	1539	Missense Mutation	ATA,ATG	I445M	NP_064583.2
XM_005257527.2	1539	Missense Mutation	ATA,ATG	I445M	XP_005257584.1

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