Product Details

SNP ID
rs142118917
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:70674881 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGTGCCAGGATCCTCAGTGGAGTG[G/T]CAGGAGGATTTTCGGGAGCTGTTCC
Phenotype
MIM: 607506
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
ADAMTS14 PubMed Links

Gene Details

Gene
ADAMTS14
Gene Name
ADAM metallopeptidase with thrombospondin type 1 motif 14
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_080722.4 693 Missense Mutation TGG,TGT W136C NP_542453.2
NM_139155.3 693 Missense Mutation TGG,TGT W136C NP_631894.2
XM_011539300.2 693 Missense Mutation TGG,TGT W136C XP_011537602.1
XM_011539301.2 693 Intron XP_011537603.1
XM_011539302.2 693 Intron XP_011537604.1
XM_011539303.2 693 Missense Mutation TGG,TGT W136C XP_011537605.1
XM_011539305.2 693 Missense Mutation TGG,TGT W136C XP_011537607.1
XM_011539306.2 693 Missense Mutation TGG,TGT W136C XP_011537608.1
XM_011539307.2 693 Missense Mutation TGG,TGT W136C XP_011537609.1
XM_011539308.2 693 Missense Mutation TGG,TGT W136C XP_011537610.1
XM_011539309.1 693 Intron XP_011537611.1

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