Product Details

SNP ID

rs139897799

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:580773 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGACGATGAGACCGGGAAGATCT[C/T]GTTCAAAAACCTGAAGCGTGTGGCC

Phenotype

MIM: 603187

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CETN1 PubMed Links

Gene Details

Gene

CETN1

Gene Name

centrin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004066.2	431	Missense Mutation	TCG,TTG	S122L	NP_004057.1

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