Product Details

SNP ID

rs140511415

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:18782926 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCACCCTGGTCCCTAGGCTTGCC[A/G]CAGCTGATGGGTCTCATAGTCCTCT

Phenotype

MIM: 600310 MIM: 607536

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

COMP PubMed Links

Additional Information

For this assay, SNP(s) [rs61752496] are located under a probe 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

COMP

Gene Name

cartilage oligomeric matrix protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000095.2	2299	Missense Mutation	CGG,TGG	R755W	NP_000086.2

Gene

CRTC1

Gene Name

CREB regulated transcription coactivator 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001098482.1	2299	Intron			NP_001091952.1
NM_015321.2	2299	Intron			NP_056136.2
XM_005259833.3	2299	Intron			XP_005259890.1
XM_005259834.1	2299	Intron			XP_005259891.1
XM_005259835.3	2299	Intron			XP_005259892.1
XM_005259836.3	2299	Intron			XP_005259893.1
XM_006722710.3	2299	Intron			XP_006722773.1
XM_011527842.2	2299	Intron			XP_011526144.1
XM_017026536.1	2299	Intron			XP_016882025.1
XM_017026537.1	2299	Intron			XP_016882026.1
XM_017026538.1	2299	Intron			XP_016882027.1

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