Product Details

SNP ID

rs200562682

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:44689651 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGGCTCCATAAACGGCTCGGTCCA[C/T]TCCCAGTGCCTCCAACCGTCCGTCC

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CCDC43 PubMed Links

Gene Details

Gene

CCDC43

Gene Name

coiled-coil domain containing 43

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001099225.1	147	Missense Mutation	ATG,GTG	M35V	NP_001092695.1
NM_144609.2	147	Missense Mutation	ATG,GTG	M35V	NP_653210.2

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