Product Details

SNP ID
rs113897617
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:65196858 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGCACTCTTCCTTGGACAGTGCCT[A/G]CAGCAGGGGACTGGGCTGGGGTGCT
Phenotype
MIM: 603489
Polymorphism
A/G, 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 3609 Missense Mutation GCA,GTA A1143V NP_003604.3
XM_017022678.1 3609 Missense Mutation GCA,GTA A1170V XP_016878167.1
XM_017022679.1 3609 Missense Mutation GCA,GTA A1119V XP_016878168.1

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