Product Details

SNP ID
rs75728452
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:94403373 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGCGCGCCCCCTGCCACCTCGGCC[C/G]AGAGGACTAATGGGGGTGCGGAGCC
Phenotype
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
TBC1D12 PubMed Links

Gene Details

Gene
TBC1D12
Gene Name
TBC1 domain family member 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015188.1 93 Missense Mutation CAG,GAG Q254E NP_056003.1
XM_006717732.3 93 Missense Mutation CAG,GAG Q254E XP_006717795.2
XM_006717733.2 93 Intron XP_006717796.1
XM_011539558.2 93 UTR 5 XP_011537860.1
XM_017015996.1 93 Missense Mutation CAG,GAG Q254E XP_016871485.1
XM_017015997.1 93 Missense Mutation CAG,GAG Q254E XP_016871486.1
XM_017015998.1 93 Intron XP_016871487.1
XM_017015999.1 93 Intron XP_016871488.1

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