Product Details

SNP ID
rs201712384
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:65196952 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACACAGTTGAAGGTGAGGGCTACTC[C/T]CACATTGCTCTTCATGATTCTGGAG
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 3515 Missense Mutation AGA,GGA R1112G NP_003604.3
XM_017022678.1 3515 Missense Mutation AGA,GGA R1139G XP_016878167.1
XM_017022679.1 3515 Missense Mutation AGA,GGA R1088G XP_016878168.1

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