Product Details

SNP ID
rs74315389
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.20:35433944 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACACGACTCCACGACCATGTCCT[T/C]ATACTGCTTATACACCACGTTGTTG
Phenotype
MIM: 601146
Polymorphism
T/C, Transition 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 1733 Missense Mutation AAG,GAG K491E NP_000548.2
NM_001319138.1 1733 Missense Mutation AAG,GAG K491E NP_001306067.1
XM_011529075.2 1733 Missense Mutation AAG,GAG K491E XP_011527377.1

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