Product Details

SNP ID

rs75720766

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:26837625 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAAAAGTCTATGAAATGTTTAGGT[A/T]TCTTTAAAGGATCACAGCTCTCATG

Phenotype

MIM: 605174

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

ADAMTS1 PubMed Links

Gene Details

Gene

ADAMTS1

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006988.4	3313	Missense Mutation	AAA,ATA	K953I	NP_008919.3

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