Product Details

SNP ID
rs201119126
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:128792511 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACAGCCACTCAACCCCAACCCTG[C/A]CAGCCGGTGGAACACGTACTTCAAG
Phenotype
MIM: 616218
Polymorphism
C/A, 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_001286772.1 370 Missense Mutation GAC,GCC D107A NP_001273701.1
NM_018201.4 370 Missense Mutation GAC,GCC D107A NP_060671.3
XM_005252060.2 370 Missense Mutation GAC,GCC D31A XP_005252117.1

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