Product Details

SNP ID
rs200053448
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:222563206 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATATTTTTCAGATATTTTGCCAAG[G/T]ATTTCCAAGCAGTTATATTCTTAGT
Phenotype
MIM: 604903
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
TAF1A PubMed Links

Gene Details

Gene
TAF1A
Gene Name
TATA-box binding protein associated factor, RNA polymerase I subunit A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001201536.1 1310 Missense Mutation TAC,TCC Y351S NP_001188465.1
NM_005681.3 1310 Missense Mutation TAC,TCC Y351S NP_005672.1
NM_139352.2 1310 Missense Mutation TAC,TCC Y237S NP_647603.1
XM_005273343.3 1310 Intron XP_005273400.1
XM_006711612.1 1310 Missense Mutation TAC,TCC Y313S XP_006711675.1
XM_006711613.3 1310 Missense Mutation TAC,TCC Y237S XP_006711676.1
XM_017002758.1 1310 Missense Mutation TAC,TCC Y313S XP_016858247.1
XM_017002759.1 1310 Missense Mutation TAC,TCC Y237S XP_016858248.1
XM_017002760.1 1310 Missense Mutation TAC,TCC Y237S XP_016858249.1

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