Product Details

SNP ID
rs146790491
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:53382826 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGATCAGCAGCTCTGGGTCCCAGGA[A/G]AGTGGCTCACAGCCTGTCACCTCAG
Phenotype
MIM: 189906
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SP1 PubMed Links

Gene Details

Gene
SP1
Gene Name
Sp1 transcription factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001251825.1 832 Silent Mutation GAA,GAG E245E NP_001238754.1
NM_003109.1 832 Silent Mutation GAA,GAG E286E NP_003100.1
NM_138473.2 832 Silent Mutation GAA,GAG E293E NP_612482.2
XM_011538696.2 832 Silent Mutation GAA,GAG E286E XP_011536998.1

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