Product Details

SNP ID

rs117112831

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:102376743 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCATGGCATCGATATCAGAGCCT[C/G]TTACATTCAGAGAGTTCTGCCCGTT

Phenotype

MIM: 615000

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

TECPR2 PubMed Links

Gene Details

Gene

TECPR2

Gene Name

tectonin beta-propeller repeat containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001172631.2	299	Missense Mutation	CTT,GTT	L8V	NP_001166102.1
NM_014844.4	299	Missense Mutation	CTT,GTT	L8V	NP_055659.2

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