Product Details

SNP ID

rs2567723

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.9:114156973 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTAGGGCTGTAGCTGGGCCCTGCCC[C/G]CTTTGAGCTGGAGTCCGCGGGATGA

Phenotype

MIM: 608461

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

COL27A1 PubMed Links

Additional Information

For this assay, SNP(s) [rs76638382] 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

COL27A1

Gene Name

collagen type XXVII alpha 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032888.3		Intron			NP_116277.2
XM_006717308.2		Intron			XP_006717371.1
XM_006717310.3		Intron			XP_006717373.1
XM_011519138.2		Intron			XP_011517440.1
XM_011519140.1		Intron			XP_011517442.1
XM_011519142.2		Intron			XP_011517444.1
XM_011519143.2		Intron			XP_011517445.1
XM_011519144.2		Intron			XP_011517446.1
XM_011519145.2		Intron			XP_011517447.1
XM_017015239.1		Intron			XP_016870728.1

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