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SNP ID

rs145548254

Assay Type

Functionally tested

NCBI dbSNP Submissions

10

Location

Chr.1:161191380 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGTGGCCCCGCTGTAGCGCAAGC[C/T]GACTGCCCCAGGCAGTACCACATCT

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	2537	Missense Mutation	CAG,CGG	Q704R	NP_001307265.1
NM_005099.5	2537	Missense Mutation	AGC,GGC	S758G	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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