Product Details

SNP ID
rs79716001
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:53382399 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGGTGGGCAGTATGTTGTGGCTG[C/G]CGCTCCCAACTTACAGAACCAGCAA
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_001251825.1 405 Missense Mutation GCC,GGC A103G NP_001238754.1
NM_003109.1 405 Missense Mutation GCC,GGC A144G NP_003100.1
NM_138473.2 405 Missense Mutation GCC,GGC A151G NP_612482.2
XM_011538696.2 405 Missense Mutation GCC,GGC A144G XP_011536998.1

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