Product Details

SNP ID
rs117483787
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:64781592 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGCAGCCCAGATTCTAATTTCACC[G/T]GAACAGCTGTTAGGACAGGGTTGGA
Phenotype
MIM: 615077
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
TBC1D30 PubMed Links

Gene Details

Gene
TBC1D30
Gene Name
TBC1 domain family member 30
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015279.1 Intron NP_056094.1
XM_011538078.2 Intron XP_011536380.1
XM_017019083.1 Intron XP_016874572.1
XM_017019084.1 Intron XP_016874573.1
XM_017019085.1 Intron XP_016874574.1
XM_017019086.1 Intron XP_016874575.1
XM_017019087.1 Intron XP_016874576.1

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