Product Details

SNP ID

rs113882703

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:82358780 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGTCAGCGTCGGAGACGGAGGCCC[G/T]GCCCTCAGAGACGCGCCCCCTAGTG

Phenotype

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CCDC59 PubMed Links

Gene Details

Gene

CCDC59

Gene Name

coiled-coil domain containing 59

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014167.4	284	Intron			NP_054886.2

Gene

METTL25

Gene Name

methyltransferase like 25

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001319675.1	284	UTR 5			NP_001306604.1
NM_032230.2	284	Missense Mutation	CGG,CTG	R72L	NP_115606.2
XM_005269186.4	284	Missense Mutation	CGG,CTG	R72L	XP_005269243.2
XM_011538827.2	284	Missense Mutation	CGG,CTG	R72L	XP_011537129.1
XM_011538828.2	284	Missense Mutation	CGG,CTG	R72L	XP_011537130.1
XM_011538829.2	284	Missense Mutation	CGG,CTG	R72L	XP_011537131.1
XM_017020020.1	284	UTR 5			XP_016875509.1
XM_017020021.1	284	UTR 5			XP_016875510.1

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