Product Details

SNP ID
rs1802671
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:59642191 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATCCACTTTAATAAGTTCTGTCAC[A/C]TCTCTGAATTCAACATCATTCAGTA
Phenotype
MIM: 600519
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
GTF2A2 PubMed Links

Gene Details

Gene
GTF2A2
Gene Name
general transcription factor IIA subunit 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320929.1 653 Missense Mutation GAG,GAT E83D NP_001307858.1
NM_001320930.1 653 Missense Mutation GAG,GAT E83D NP_001307859.1
NM_004492.2 653 Missense Mutation GAG,GAT E83D NP_004483.1

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