Product Details

SNP ID
rs76003336
Assay Type
Functionally tested
NCBI dbSNP Submissions
28
Location
Chr.1:222558685 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAGAGTCTTGGATTTACAATACTG[C/T]ATTTTTTCACAGATCTCTTCATCCG
Phenotype
MIM: 604903
Polymorphism
C/T, Transition 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 1586 Missense Mutation TAC,TGC Y443C NP_001188465.1
NM_005681.3 1586 Missense Mutation TAC,TGC Y443C NP_005672.1
NM_139352.2 1586 Missense Mutation TAC,TGC Y329C NP_647603.1
XM_005273343.3 1586 Intron XP_005273400.1
XM_006711612.1 1586 Missense Mutation TAC,TGC Y405C XP_006711675.1
XM_006711613.3 1586 Missense Mutation TAC,TGC Y329C XP_006711676.1
XM_017002758.1 1586 Missense Mutation TAC,TGC Y405C XP_016858247.1
XM_017002759.1 1586 Missense Mutation TAC,TGC Y329C XP_016858248.1
XM_017002760.1 1586 Missense Mutation TAC,TGC Y329C XP_016858249.1

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