Product Details

SNP ID
rs121434459
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:146071386 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACTTGCTTCATGTGGATATCATCA[G/A]TTGGGACATTTTCATAACCACCAGA
Phenotype
MIM: 601865
Polymorphism
G/A, Transition substitution
Allele Nomenclature
Literature Links
PLOD2 PubMed Links

Gene Details

Gene
PLOD2
Gene Name
procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000935.2 1949 Missense Mutation ACT,ATT T608I NP_000926.2
NM_182943.2 1949 Missense Mutation ACT,ATT T629I NP_891988.1
XM_005247535.3 1949 Missense Mutation ACT,ATT T537I XP_005247592.1
XM_017006625.1 1949 Missense Mutation ACT,ATT T537I XP_016862114.1

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