Product Details

SNP ID

rs146326084

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:78776778 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTCCCCACACCGGGTGCCGTCCA[C/T]AGCTGCATCCAGCTTGGAGTGACAG

Phenotype

MIM: 605009

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ADAMTS7 PubMed Links

Gene Details

Gene

ADAMTS7

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014272.4	1774	Missense Mutation	ATG,GTG	M511V	NP_055087.2
XM_005254137.3	1774	Missense Mutation	ATG,GTG	M511V	XP_005254194.1
XM_011521166.2	1774	Intron			XP_011519468.1

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