Product Details

SNP ID

rs201592611

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:72283167 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTAAGGTGGATGATCTTGTCGGA[C/T]GTCTGTTGTCAATGATCTTTCCATC

Phenotype

MIM: 605011

Polymorphism

C/T, Transition 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	4155	Missense Mutation	CAT,CGT	H1196R	NP_055058.2
XM_011532421.2	4155	Missense Mutation	CAT,CGT	H1177R	XP_011530723.1
XM_011532422.2	4155	Missense Mutation	CAT,CGT	H1168R	XP_011530724.1

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