Product Details

SNP ID

rs147488518

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:116120295 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATACAGGCCTACCCAAACATGAGT[A/C]CCTTTCACATGCACGTGGTATGAAA

Phenotype

MIM: 120110

Polymorphism

A/C, Transversion 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	5364	Silent Mutation	GGG,GGT	G607G	NP_000484.2
XM_006715333.3	5364	Silent Mutation	GGG,GGT	G607G	XP_006715396.1
XM_011535432.2	5364	Silent Mutation	GGG,GGT	G607G	XP_011533734.1
XM_011535433.2	5364	Silent Mutation	GGG,GGT	G607G	XP_011533735.1
XM_017010248.1	5364	Silent Mutation	GGG,GGT	G607G	XP_016865737.1
XM_017010249.1	5364	Silent Mutation	GGG,GGT	G607G	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	5364	Intron			NP_689942.2
XM_006715378.3	5364	Intron			XP_006715441.1

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