Product Details

SNP ID
rs187235608
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:48617895 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGTCATGGCCTGCCTCAACCCGGT[G/T]GTAAGGAAGACCTCAGGCTCTGTGT
Phenotype
MIM: 605358
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
GTF2A1L PubMed Links

Gene Details

Gene
GTF2A1L
Gene Name
general transcription factor IIA subunit 1 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001193487.2 116 Silent Mutation GTG,GTT V7V NP_001180416.1
NM_006872.4 116 Silent Mutation GTG,GTT V7V NP_006863.2
Gene
STON1-GTF2A1L
Gene Name
STON1-GTF2A1L readthrough
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001198593.1 116 Intron NP_001185522.1
NM_001198594.1 116 Intron NP_001185523.1
NM_172311.2 116 Intron NP_758515.1

View Full Product Details