Product Details

SNP ID
rs121909348
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:35433954 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACGACCATGTCCTCATACTGCTT[C/A]TACACCACGTTGTTGGCAGAGTCAA
Phenotype
MIM: 601146
Polymorphism
C/A, Transversion substitution
Allele Nomenclature
Literature Links
GDF5 PubMed Links

Gene Details

Gene
GDF5
Gene Name
growth differentiation factor 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000557.4 1723 Nonsense Mutation TAG,TAT *487Y NP_000548.2
NM_001319138.1 1723 Nonsense Mutation TAG,TAT *487Y NP_001306067.1
XM_011529075.2 1723 Nonsense Mutation TAG,TAT *487Y XP_011527377.1

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