Product Details

SNP ID
rs185174235
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:53381766 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGTGGTGGTGCCTTTTCACAGGCT[C/G]GAAGTAGCAGCACAGGCAGTAGCAG
Phenotype
MIM: 189906
Polymorphism
C/G, Transversion 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_001251825.1 212 Missense Mutation CGA,GGA R39G NP_001238754.1
NM_003109.1 212 Missense Mutation CGA,GGA R32G NP_003100.1
NM_138473.2 212 Missense Mutation CGA,GGA R39G NP_612482.2
XM_011538696.2 212 Missense Mutation CGA,GGA R32G XP_011536998.1

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