Product Details

SNP ID
rs147536612
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:53382802 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGACTCCCAGCTCTCAGGCAGTCAC[A/G]ATCAGCAGCTCTGGGTCCCAGGAGA
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_001251825.1 808 Silent Mutation ACA,ACG T237T NP_001238754.1
NM_003109.1 808 Silent Mutation ACA,ACG T278T NP_003100.1
NM_138473.2 808 Silent Mutation ACA,ACG T285T NP_612482.2
XM_011538696.2 808 Silent Mutation ACA,ACG T278T XP_011536998.1

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