Product Details

SNP ID

rs147483140

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:41810222 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTCCCTCAGGTGCTGGAGGACTCC[C/T]GGACAGTGCTCACCGCTGCTGATGT

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CCDC134 PubMed Links

Gene Details

Gene

CCDC134

Gene Name

coiled-coil domain containing 134

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304797.1	492	Intron			NP_001291726.1
NM_024821.3	492	Missense Mutation	CGG,TGG	R81W	NP_079097.1
XM_005261748.3	492	Missense Mutation	CGG,TGG	R81W	XP_005261805.1

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