Product Details

SNP ID
rs140815770
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:53381737 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTGGTGGCAATAATGGGGGCAATG[G/T]TAATGGTGGTGGTGCCTTTTCACAG
Phenotype
MIM: 189906
Polymorphism
G/T, 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_001251825.1 183 Missense Mutation GGT,GTT G29V NP_001238754.1
NM_003109.1 183 Missense Mutation GGT,GTT G22V NP_003100.1
NM_138473.2 183 Missense Mutation GGT,GTT G29V NP_612482.2
XM_011538696.2 183 Missense Mutation GGT,GTT G22V XP_011536998.1

View Full Product Details