Product Details

SNP ID

rs144548693

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:70522660 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATAATAAAAAAGCAACCAAAGGAA[A/G]AAGGCACAATAGTGACAGGTAACGC

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	11389	Missense Mutation	CTT,TTT	L750F	NP_003805.3
XM_005268151.3	11389	Missense Mutation	CTT,TTT	L750F	XP_005268208.1

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