Product Details

SNP ID

rs112596178

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:70523286 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACATTACAGGAGATCCCGTCCTGC[A/G]CATACACATCATCTGGGCATTGATG

Phenotype

MIM: 603712

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ADAM20 PubMed Links

Gene Details

Gene

ADAM20

Gene Name

ADAM metallopeptidase domain 20

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003814.4	10763	Missense Mutation	GCG,GTG	A541V	NP_003805.3
XM_005268151.3	10763	Missense Mutation	GCG,GTG	A541V	XP_005268208.1

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