Product Details

SNP ID

rs11553679

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:11948013 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTCACGGTGGCCACTAAGGAGAC[A/C]GAGGGATTCCGTCGCTTCAAGCGCT

Phenotype

MIM: 153454

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

PLOD1 PubMed Links

Gene Details

Gene

PLOD1

Gene Name

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000302.3	368	Silent Mutation	ACA,ACC	T38T	NP_000293.2
NM_001316320.1	368	Silent Mutation	ACA,ACC	T85T	NP_001303249.1

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