Product Details

SNP ID

rs111033549

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:116120165 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACTCGGCATTGGGAAGCTGGAGCC[G/A]CACCTGGTCATTTTCTGTGAGATCG

Phenotype

MIM: 120110

Polymorphism

G/A, Transition substitution

Allele Nomenclature

Literature Links

COL10A1 PubMed Links

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	5494	Missense Mutation	CGG,TGG	R651W	NP_000484.2
XM_006715333.3	5494	Missense Mutation	CGG,TGG	R651W	XP_006715396.1
XM_011535432.2	5494	Missense Mutation	CGG,TGG	R651W	XP_011533734.1
XM_011535433.2	5494	Missense Mutation	CGG,TGG	R651W	XP_011533735.1
XM_017010248.1	5494	Missense Mutation	CGG,TGG	R651W	XP_016865737.1
XM_017010249.1	5494	Missense Mutation	CGG,TGG	R651W	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	5494	Intron			NP_689942.2
XM_006715378.3	5494	Intron			XP_006715441.1

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