Product Details

SNP ID
rs191692991
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:91104254 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGAGATGCGATTGCCATCCAAAC[A/G]CAAATGCTTGATCTTGGAGTAGGAT
Phenotype
MIM: 600616
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
LUM PubMed Links

Gene Details

Gene
LUM
Gene Name
lumican
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002345.3 1317 Missense Mutation CGT,TGT R310C NP_002336.1

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