Product Details

SNP ID

rs200273920

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.15:65197047 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGGCCGTGCGAGGGTCCTGGTCA[A/G]TGACAGTGTAGATGCCATAGTTGTG

Phenotype

MIM: 603489

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

CILP PubMed Links

Additional Information

For this assay, SNP(s) [rs35385195] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	3420	Missense Mutation	ACT,ATT	T1080I	NP_003604.3
XM_017022678.1	3420	Missense Mutation	ACT,ATT	T1107I	XP_016878167.1
XM_017022679.1	3420	Missense Mutation	ACT,ATT	T1056I	XP_016878168.1

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