Product Details

SNP ID
rs183803467
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:128792545 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAACACGTACTTCAAGGACAACGA[G/T]GTGCTGCTGCAGATCGACAAAGATG
Phenotype
MIM: 616218
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
TBC1D13 PubMed Links

Gene Details

Gene
TBC1D13
Gene Name
TBC1 domain family member 13
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286772.1 404 Missense Mutation GAG,GAT E118D NP_001273701.1
NM_018201.4 404 Missense Mutation GAG,GAT E118D NP_060671.3
XM_005252060.2 404 Missense Mutation GAG,GAT E42D XP_005252117.1

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