Product Details

SNP ID
rs146384000
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:70523073 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCCACATTTTCACACTGAACCCTC[C/T]CACACATGATATCAGGGGTCCAACA
Phenotype
MIM: 603712
Polymorphism
C/T, 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 10976 Missense Mutation GAG,GGG E612G NP_003805.3
XM_005268151.3 10976 Missense Mutation GAG,GGG E612G XP_005268208.1

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