Product Details

SNP ID

rs200032286

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:161191150 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGGATAGTGAGGTTATTTCCTGCC[C/T]GCCCAGGGGCGCCGCCGAAGGATCT

Phenotype

MIM: 603876 MIM: 602985

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ADAMTS4 PubMed Links

Gene Details

Gene

ADAMTS4

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320336.1	2767	Missense Mutation	AGG,GGG	R781G	NP_001307265.1
NM_005099.5	2767	Silent Mutation	GCA,GCG	A834A	NP_005090.3

Gene

NDUFS2

Gene Name

NADH:ubiquinone oxidoreductase core subunit S2

There are no transcripts associated with this gene.

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