Product Details

SNP ID
rs140038278
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:70523037 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCACTGTAGAATGCTCTATCAGA[C/T]TGGGAATTACTCCCACATTTTCACA
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 11012 Missense Mutation AAT,AGT N624S NP_003805.3
XM_005268151.3 11012 Missense Mutation AAT,AGT N624S XP_005268208.1

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