Product Details

SNP ID

rs147423847

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.6:116120269 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTGTACATTACAGGGGTGCCATTC[A/T]TATACAGGCCTACCCAAACATGAGT

Phenotype

MIM: 120110

Polymorphism

A/T, Transversion Substitution

Allele Nomenclature

Literature Links

COL10A1 PubMed Links

Additional Information

For this assay, SNP(s) [rs2228548] 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

COL10A1

Gene Name

collagen type X alpha 1 chain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000493.3	5390	Missense Mutation	AAG,ATG	K616M	NP_000484.2
XM_006715333.3	5390	Missense Mutation	AAG,ATG	K616M	XP_006715396.1
XM_011535432.2	5390	Missense Mutation	AAG,ATG	K616M	XP_011533734.1
XM_011535433.2	5390	Missense Mutation	AAG,ATG	K616M	XP_011533735.1
XM_017010248.1	5390	Missense Mutation	AAG,ATG	K616M	XP_016865737.1
XM_017010249.1	5390	Missense Mutation	AAG,ATG	K616M	XP_016865738.1

Gene

NT5DC1

Gene Name

5'-nucleotidase domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152729.2	5390	Intron			NP_689942.2
XM_006715378.3	5390	Intron			XP_006715441.1

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