Product Details

SNP ID
rs200400903
Assay Type
Functionally tested
NCBI dbSNP Submissions
11
Location
Chr.1:51288206 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGATCTGCTGCTGTTCTCTAGGGAA[A/G]ACTTGGCTTGGAGTGTGGCTGCCTG
Phenotype
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
TTC39A PubMed Links

Gene Details

Gene
TTC39A
Gene Name
tetratricopeptide repeat domain 39A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080494.3 1892 Missense Mutation TCT,TTT S563F NP_001073963.1
NM_001144832.2 1892 Missense Mutation TCT,TTT S566F NP_001138304.1
NM_001297662.1 1892 Intron NP_001284591.1
NM_001297663.1 1892 Missense Mutation TCT,TTT S562F NP_001284592.1
NM_001297664.1 1892 Missense Mutation TCT,TTT S535F NP_001284593.1
NM_001297665.1 1892 Missense Mutation TCT,TTT S598F NP_001284594.1
NM_001297666.1 1892 Missense Mutation TCT,TTT S206F NP_001284595.1
NM_001297667.1 1892 Missense Mutation TCT,TTT S139F NP_001284596.1
XM_005270644.2 1892 Missense Mutation TCT,TTT S559F XP_005270701.1
XM_006710471.2 1892 Missense Mutation TCT,TTT S594F XP_006710534.1
XM_011541048.2 1892 Missense Mutation TCT,TTT S601F XP_011539350.1
XM_011541049.2 1892 Missense Mutation TCT,TTT S599F XP_011539351.1
XM_011541050.2 1892 Missense Mutation TCT,TTT S597F XP_011539352.1
XM_011541051.2 1892 Missense Mutation TCT,TTT S570F XP_011539353.1
XM_011541052.2 1892 Missense Mutation TCT,TTT S570F XP_011539354.1
XM_011541053.2 1892 Missense Mutation TCT,TTT S570F XP_011539355.1
XM_011541054.2 1892 Missense Mutation TCT,TTT S535F XP_011539356.1
XM_017000715.1 1892 Missense Mutation TCT,TTT S535F XP_016856204.1

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