Product Details

SNP ID

rs139458364

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:72283198 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGTCAATGATCTTTCCATCTTTCT[A/T]TGAGGTTCTTGCCTGAGAAGAAGCA

Phenotype

MIM: 605011

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

ADAMTS3 PubMed Links

Gene Details

Gene

ADAMTS3

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014243.2	4124	Missense Mutation	AAG,TAG	K1186*	NP_055058.2
XM_011532421.2	4124	Nonsense Mutation	AAG,TAG	K1167*	XP_011530723.1
XM_011532422.2	4124	Nonsense Mutation	AAG,TAG	K1158*	XP_011530724.1

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