Product Details

SNP ID
rs201603047
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:65197018 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCATCAAAGCACCGGCCGAGCGCGA[C/T]CTCCTTGGCCGTGCGAGGGTCCTGG
Phenotype
MIM: 603489
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CILP PubMed Links

Gene Details

Gene
CILP
Gene Name
cartilage intermediate layer protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003613.3 3449 Missense Mutation ATC,GTC I1090V NP_003604.3
XM_017022678.1 3449 Missense Mutation ATC,GTC I1117V XP_016878167.1
XM_017022679.1 3449 Missense Mutation ATC,GTC I1066V XP_016878168.1

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