Product Details

SNP ID
rs112173811
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:53382526 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACAGCTGCAGTTTGCTGCCACTGG[A/G]GCCCAAGTGCAGCAGGATGGTTCTG
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_001251825.1 532 Silent Mutation GGA,GGG G145G NP_001238754.1
NM_003109.1 532 Silent Mutation GGA,GGG G186G NP_003100.1
NM_138473.2 532 Silent Mutation GGA,GGG G193G NP_612482.2
XM_011538696.2 532 Silent Mutation GGA,GGG G186G XP_011536998.1

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